Harmonizome 3.0

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

essential tremor 2

Tremor, hereditary essential, 3

spinocerebellar ataxia, autosomal recessive 2

spinocerebellar ataxia, autosomal recessive 3

nuclear protein, ataxia-telangiectasia locus

Enables transcription coactivator activity and transcription corepressor activity. Involved in cell cycle G1/S phase transition and positive regulation of transcription by RNA polymerase II. Located in Cajal body; Gemini of coiled bodies; and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

spinocerebellar ataxia with saccadic intrusions

Friedreich ataxia 2

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

spinocerebellar ataxia 20

spinocerebellar ataxia 21

spinocerebellar ataxia 25

spinocerebellar ataxia 26

Episodic ataxia, type 7

Ataxia, spastic, 3, autosomal recessive

spastic ataxia 1 (autosomal dominant)

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

Episodic ataxia, type 8

Episodic ataxia, type 3

spinocerebellar ataxia, X-linked 2

spinocerebellar ataxia, X-linked 3

spinocerebellar ataxia, X-linked 4

Spinocerebellar ataxia, X-linked 5

ataxia, cerebellar, Cayman type

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]

spinocerebellar ataxia 9

spinocerebellar ataxia 37

spinocerebellar ataxia 32

spinocerebellar ataxia 30

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 X mental retardation 1

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

fragile X mental retardation associated 3

fragile X mental retardation, autosomal homolog 1

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

fragile X mental retardation, autosomal homolog 2

The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]

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

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

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)

fragile X mental retardation, autosomal homolog 1 pseudogene

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)

nuclear fragile X mental retardation protein interacting protein 2

Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Mar 2025]

nuclear fragile X mental retardation protein interacting protein 1

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

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

fragile histidine triad

The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]

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)

nuclear fragile X mental retardation protein interacting protein 1 pseudogene

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]

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)

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)

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

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

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

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)

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)

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

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 X mental retardation 1 neighbor

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

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)

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)

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)

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)