Harmonizome 3.0

CTS telomere maintenance complex component 1

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

SDE2 telomere maintenance homolog (S. pombe)

Enables damaged DNA binding activity and snoRNA binding activity. Involved in several processes, including cellular response to UV; gene expression; and mitotic G1 DNA damage checkpoint signaling. Located in several cellular components, including Golgi apparatus; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

telomere length, mean leukocyte

regulator of telomere elongation helicase 1

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

telomere maintenance 2

This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]

regulator of telomere elongation helicase 1 pseudogene 1

telomere repeat binding bouquet formation protein 1

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Mar 2025]

telomere repeat binding bouquet formation protein 2

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within meiosis I; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. Implicated in spermatogenic failure 59. [provided by Alliance of Genome Resources, Mar 2025]

ecotropic viral integration site 2A

Predicted to enable transmembrane signaling receptor activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ecotropic viral integration site 2B

Involved in positive regulation of granulocyte differentiation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

wingless-type MMTV integration site family, member 3

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family member 2

This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family, member 1

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family, member 6

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family, member 4

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family, member 10A

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family, member 10B

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]

fragile site, aphidicolin type, common, fra(4)(p16.1)

fragile site, BrdU type, common, fra(4)(q12)

fragile site, aphidicolin type, common, fra(4)(q31.1)

fragile site, aphidicolin type, common, fra(4)(p15)

fragile site, aphidicolin type, common, fra(22)(q12.2)

fragile site, distamycin A type, rare, fra(17)(p12)

fragile site, aphidicolin type, common, fra(17)(q23.1)

Abelson helper integration site 1

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

hepatitis B virus integration site 7

hepatitis B virus integration site 8

fragile site, aphidicolin type, common, fra(7)(q36)

fragile site, aphidicolin type, common, fra(7)(q32.3)

fragile site, aphidicolin type, common, fra(7)(q11)

fragile site, folic acid type, rare, fra(7)(p11.2)

fragile site, aphidicolin type, common, fra(7)(p14.2)

fragile site, aphidicolin type, common, fra(7)(p22)

fragile site, aphidicolin type, common, fra(7)(q21.2)

fragile site, aphidicolin type, common, fra(7)(p13)

fragile site, aphidicolin type, common, fra(7)(q31.2)

fragile site, aphidicolin type, common, fra(7)(q22)

wingless-type MMTV integration site family, member 7A

This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family, member 7B

This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]

fragile site, aphidicolin type, common, fra(10)(q22.1)

fragile site, aphidicolin type, common, fra(10)(q25.2)

fragile site, aphidicolin type, common, fra(10)(q26.1)

fragile site, aphidicolin type, common, fra(10)(q11.2)

fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2)

fragile site, BrdU type, common, fra(10)(q21)

fragile site, aphidicolin type, common, fra(2)(q21.3)

fragile site, aphidicolin type, common, fra(2)(q31)

fragile site, aphidicolin type, common, fra(2)(p16.2)

fragile site, aphidicolin type, common, fra(2)(p13)

fragile site, folic acid type, rare, fra(2)(q13)

fragile site, aphidicolin type, common, fra(2)(p24.2)

fragile site, folic acid type, rare, fra(2)(q11.2)

fragile site, aphidicolin type, common, fra(2)(q37.3)

fragile site, folic acid type, rare, fra(2)(q22.3)

fragile site, aphidicolin type, common, fra(2)(q32.1)

fragile site, aphidicolin type, common, fra(2)(q33)

fragile site, aphidicolin type, common, fra(18)(q12.2)

fragile site, aphidicolin type, common, fra(18)(q21.3)

wingless-type MMTV integration site family, member 2B

This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Epstein Barr virus integration site 1

fragile site, aphidicolin type, common, fra(15)(q22)

ecotropic viral integration site 5-like

Enables GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

viral integration site 1

wingless-type MMTV integration site family, member 9A

The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008]

fragile site, folic acid type, rare, fra(5)(q35)

fragile site, aphidicolin type, common, fra(5)(q21)

fragile site, aphidicolin type, common, fra(5)(p14)

fragile site, aphidicolin type, common, fra(5)(q15)

fragile site, aphidicolin type, common, fra(5)(q31.1)

fragile site, BrdU type, common, fra(5)(q15)

fragile site, BrdU type, common, fra(5)(p13)

wingless-type MMTV integration site family, member 5B

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

wingless-type MMTV integration site family, member 5A

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

D site of albumin promoter (albumin D-box) binding protein

The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]

estrogen receptor binding site associated, antigen, 9 pseudogene 1

fragile site, BrdU type, rare, fra(10)(q25.2)

fragile site, aphidicolin type, common, fra(16)(q23.2)

fragile site, distamycin A type, rare, fra(16)(p12.1)

fragile site, distamycin A type, rare, fra(16)(q22.1)

fragile site, aphidicolin type, common, fra(16)(q22.1)

fragile site, folic acid type, rare, fra(16)(p13.11)

There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (MIM 613604); see MIM 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see MIM 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.[supplied by OMIM, Nov 2010]

Friend-murine leukemia virus integration site 3 homolog

ecotropic viral integration site 5

Enables GTPase activator activity and small GTPase binding activity. Involved in positive regulation of GTPase activity and retrograde transport, endosome to Golgi. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

wingless-type MMTV integration site family, member 8A

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]

wingless-type MMTV integration site family, member 8B

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]

fragile site, aphidicolin type, common, fra(8)(q24.3)

fragile site, distamycin A type, rare, fra(8)(q24.1)

fragile site, folic acid type, rare, fra(8)(q22.3)

fragile site, aphidicolin type, common, fra(8)(q22.1)

fragile site, aphidicolin type, common, fra(8)(q24.1)

membrane-bound transcription factor peptidase, site 2

This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]

membrane-bound transcription factor peptidase, site 1

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]

Friend-murine leukemia virus integration site 1 homolog

fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

fragile site, aphidicolin type, common, fra(13)(q13.2)

fragile site, aphidicolin type, common, fra(13)(q21.2)

fragile site, BrdU type, common, fra(13)(q21)

fragile site, aphidicolin type, common, fra(13)(q32)

adeno-associated virus integration site 1

fragile site, aphidicolin type, common, fra(3)(q25)

fragile site, aphidicolin type, common, fra(3)(q27)

estrogen receptor binding site associated, antigen, 9

This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013]

beta-site APP-cleaving enzyme 1

This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]

beta-site APP-cleaving enzyme 2

This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

fragile site, folic acid type, rare, fra(22)(q13)

wingless-type MMTV integration site family, member 3A

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008]

fragile site, aphidicolin type, common, fra(18)(q22.2)

fragile site, aphidicolin type, common, fra(X)(q27.2) D

fragile site, folic acid type, rare, fra(X)(q28) E

fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)

fragile site, aphidicolin type, common, fra(X)(p22.31) B

fragile site, aphidicolin type, common, fra(X)(q22.1) C

fragile site, aphidicolin type, common, fra(14)(q23)

fragile site, aphidicolin type, common, fra(14)(q24.1)

human papillomavirus (type 6a) integration site 1

fragile site, aphidicolin type, common, fra(6)(p25.1)

fragile site, aphidicolin type, common, fra(6)(p22.2)

fragile site, folic acid type, rare, fra(6)(p23)

fragile site, aphidicolin type, common, fra(6)(q21)

fragile site, aphidicolin type, common, fra(6)(q15)

fragile site, BrdU type, common, fra(6)(q13)

fragile site, aphidicolin type, common, fra(6)(q26)

wingless-type MMTV integration site family, member 11

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008]

human papilloma virus (type 18) integration site 1

human papillomavirus (type 18) integration site 2

baboon M7 virus integration site

fragile site, aphidicolin type, common, fra(3)(p24.2)

murine retrovirus integration site 1 homolog

This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011]

fragile site, aphidicolin type, common, fra(11)(p15.1)

fragile site, folic acid type, rare, fra(11)(q13.3)

fragile site, aphidicolin type, common, fra(11)(q23.3)

fragile site, aphidicolin type, common, fra(11)(q14.2)

fragile site, aphidicolin type, common, fra(11)(p13)

fragile site, aphidicolin type, common, fra(11)(p14.2)

fragile site, distamycin A type, rare, fra(11)(p15.1)

fragile site, aphidicolin type, common, fra(11)(q13)

fragile site, aphidicolin type, common, fra(1)(p31.2)

fragile site, aphidicolin type, common, fra(1)(p32)

fragile site, aphidicolin type, common, fra(1)(p36)

fragile site, aphidicolin type, common, fra(1)(q25.1)

fragile site, aphidicolin type, common, fra(1)(q21)

fragile site, aphidicolin type, common, fra(1)(p21.2)

fragile site, aphidicolin type, common, fra(1)(p22)

fragile site, aphidicolin type, common, fra(1)(q31)

fragile site, 5-azacytidine type, common, fra(1)(q12)

fragile site, aphidicolin type, common, fra(1)(q44)

fragile site, 5-azacytidine type, common, fra(1)(q42)

fragile site, folic acid type, rare, fra(1)(p21.3)

fragile site, aphidicolin type, common, fra(1)(p31)

wingless-type MMTV integration site family, member 9B

The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

fragile site, aphidicolin type, common, fra(12)(q21.3)

fragile site, folic acid type, rare, fra(19)(p13)

fragile site, 5-azacytidine type, common, fra(19)(q13)

serine active site containing 1

The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

fragile site, aphidicolin type, common, fra(20)(p12.2)

fragile site, folic acid type, rare, fra(20)(p11.23)

fragile site, BrdU type, common, fra(9)(p21)

fragile site, folic acid type, rare, fra(9)(q32)

fragile site, folic acid type, rare, fra(9)(p21)

fragile site, 5-azacytidine type, common, fra(9)(q12)

fragile site, aphidicolin type, common, fra(9)(q32)

fragile site, aphidicolin type, common, fra(9)(q22.1)

wingless-type MMTV integration site family, member 16

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]

Moloney murine leukemia virus (MoMuLV) integration site 2 homolog

Moloney leukemia virus integration site 4, mouse, homolog of

fragile site, BrdU type, rare, fra(12)(q24.2)

fragile site, folic acid type, rare, fra(12)(q13.1)

FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000 [PubMed 10955484]). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).[supplied by OMIM, Mar 2008]

fragile site, folic acid type, rare, fra(12)(q24.13)

fragile site, aphidicolin type, common, fra(12)(q24)

mitochondrial contact site and cristae organizing system subunit 10

Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Mar 2025]

mitochondrial contact site and cristae organizing system subunit 13

Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Mar 2025]