Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	118924
Gene name	FRA10A associated CGG repeat 1
Gene symbol	FRA10AC1
Synonyms (NCBI Gene)	C10orf4F26C11.1-likeFRA10ANEDGFC
Chromosome	10
Chromosome location	10q23.33
Summary	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

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Show/Hide all (199)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022031	hsa-miR-128-3p	Microarray	17612493
MIRT025142	hsa-miR-181a-5p	Microarray	17612493
MIRT1003975	hsa-miR-1228	CLIP-seq
MIRT1003976	hsa-miR-1238	CLIP-seq
MIRT1003977	hsa-miR-1252	CLIP-seq
MIRT1003978	hsa-miR-1262	CLIP-seq
MIRT1003979	hsa-miR-1269	CLIP-seq
MIRT1003980	hsa-miR-1269b	CLIP-seq
MIRT1003981	hsa-miR-1293	CLIP-seq
MIRT1003982	hsa-miR-1468	CLIP-seq
MIRT1003983	hsa-miR-149	CLIP-seq
MIRT1003984	hsa-miR-2110	CLIP-seq
MIRT1003985	hsa-miR-216b	CLIP-seq
MIRT1003986	hsa-miR-217	CLIP-seq
MIRT1003987	hsa-miR-2278	CLIP-seq
MIRT1003988	hsa-miR-3074-3p	CLIP-seq
MIRT1003989	hsa-miR-3144-5p	CLIP-seq
MIRT1003990	hsa-miR-3145-3p	CLIP-seq
MIRT1003991	hsa-miR-3191	CLIP-seq
MIRT1003992	hsa-miR-3192	CLIP-seq
MIRT1003993	hsa-miR-326	CLIP-seq
MIRT1003994	hsa-miR-330-5p	CLIP-seq
MIRT1003995	hsa-miR-339-5p	CLIP-seq
MIRT1003996	hsa-miR-361-5p	CLIP-seq
MIRT1003997	hsa-miR-3617	CLIP-seq
MIRT1003998	hsa-miR-3649	CLIP-seq
MIRT1003999	hsa-miR-3653	CLIP-seq
MIRT1004000	hsa-miR-3658	CLIP-seq
MIRT1004001	hsa-miR-3672	CLIP-seq
MIRT1004002	hsa-miR-3689a-3p	CLIP-seq
MIRT1004003	hsa-miR-3689c	CLIP-seq
MIRT1004004	hsa-miR-3692	CLIP-seq
MIRT1004005	hsa-miR-369-3p	CLIP-seq
MIRT1004006	hsa-miR-374a	CLIP-seq
MIRT1004007	hsa-miR-374b	CLIP-seq
MIRT1004008	hsa-miR-3921	CLIP-seq
MIRT1004009	hsa-miR-4271	CLIP-seq
MIRT1004010	hsa-miR-4279	CLIP-seq
MIRT1004011	hsa-miR-4293	CLIP-seq
MIRT1004012	hsa-miR-4314	CLIP-seq
MIRT1004013	hsa-miR-4418	CLIP-seq
MIRT1004014	hsa-miR-4459	CLIP-seq
MIRT1004015	hsa-miR-4463	CLIP-seq
MIRT1004016	hsa-miR-4483	CLIP-seq
MIRT1004017	hsa-miR-4506	CLIP-seq
MIRT1004018	hsa-miR-451b	CLIP-seq
MIRT1004019	hsa-miR-4529-3p	CLIP-seq
MIRT1004020	hsa-miR-4536	CLIP-seq
MIRT1004021	hsa-miR-4646-5p	CLIP-seq
MIRT1004022	hsa-miR-4652-5p	CLIP-seq
MIRT1004023	hsa-miR-4653-5p	CLIP-seq
MIRT1004024	hsa-miR-4667-5p	CLIP-seq
MIRT1004025	hsa-miR-4670-3p	CLIP-seq
MIRT1004026	hsa-miR-4691-5p	CLIP-seq
MIRT1004027	hsa-miR-4700-5p	CLIP-seq
MIRT1004028	hsa-miR-4701-3p	CLIP-seq
MIRT1004029	hsa-miR-4725-3p	CLIP-seq
MIRT1004030	hsa-miR-4728-5p	CLIP-seq
MIRT1004031	hsa-miR-491-5p	CLIP-seq
MIRT1004032	hsa-miR-509-3-5p	CLIP-seq
MIRT1004033	hsa-miR-509-5p	CLIP-seq
MIRT1004034	hsa-miR-515-3p	CLIP-seq
MIRT1004035	hsa-miR-519e	CLIP-seq
MIRT1004036	hsa-miR-548u	CLIP-seq
MIRT1004037	hsa-miR-550b	CLIP-seq
MIRT1004038	hsa-miR-581	CLIP-seq
MIRT1004039	hsa-miR-582-5p	CLIP-seq
MIRT1004040	hsa-miR-583	CLIP-seq
MIRT1004041	hsa-miR-600	CLIP-seq
MIRT1004042	hsa-miR-641	CLIP-seq
MIRT1004043	hsa-miR-892b	CLIP-seq
MIRT1004044	hsa-miR-935	CLIP-seq
MIRT1004045	hsa-miR-942	CLIP-seq
MIRT1997579	hsa-miR-124	CLIP-seq
MIRT1003987	hsa-miR-2278	CLIP-seq
MIRT1997580	hsa-miR-2681	CLIP-seq
MIRT1997581	hsa-miR-3612	CLIP-seq
MIRT1004017	hsa-miR-4506	CLIP-seq
MIRT1997582	hsa-miR-4666-5p	CLIP-seq
MIRT1997583	hsa-miR-4802-3p	CLIP-seq
MIRT1997584	hsa-miR-506	CLIP-seq
MIRT1997585	hsa-miR-548an	CLIP-seq
MIRT1004041	hsa-miR-600	CLIP-seq
MIRT1997586	hsa-miR-650	CLIP-seq
MIRT1003975	hsa-miR-1228	CLIP-seq
MIRT1997579	hsa-miR-124	CLIP-seq
MIRT2231235	hsa-miR-1253	CLIP-seq
MIRT1003978	hsa-miR-1262	CLIP-seq
MIRT1003979	hsa-miR-1269	CLIP-seq
MIRT1003980	hsa-miR-1269b	CLIP-seq
MIRT1003981	hsa-miR-1293	CLIP-seq
MIRT2231236	hsa-miR-140-3p	CLIP-seq
MIRT2231237	hsa-miR-15a	CLIP-seq
MIRT2231238	hsa-miR-15b	CLIP-seq
MIRT2231239	hsa-miR-16	CLIP-seq
MIRT2231240	hsa-miR-195	CLIP-seq
MIRT1003988	hsa-miR-3074-3p	CLIP-seq
MIRT1003989	hsa-miR-3144-5p	CLIP-seq
MIRT2231241	hsa-miR-3168	CLIP-seq
MIRT1003991	hsa-miR-3191	CLIP-seq
MIRT1003992	hsa-miR-3192	CLIP-seq
MIRT1003993	hsa-miR-326	CLIP-seq
MIRT1003994	hsa-miR-330-5p	CLIP-seq
MIRT1003996	hsa-miR-361-5p	CLIP-seq
MIRT1003997	hsa-miR-3617	CLIP-seq
MIRT2231242	hsa-miR-3662	CLIP-seq
MIRT1004001	hsa-miR-3672	CLIP-seq
MIRT1004002	hsa-miR-3689a-3p	CLIP-seq
MIRT1004003	hsa-miR-3689c	CLIP-seq
MIRT1004004	hsa-miR-3692	CLIP-seq
MIRT2231243	hsa-miR-377	CLIP-seq
MIRT2231244	hsa-miR-424	CLIP-seq
MIRT2231245	hsa-miR-4257	CLIP-seq
MIRT1004012	hsa-miR-4314	CLIP-seq
MIRT1004016	hsa-miR-4483	CLIP-seq
MIRT1004019	hsa-miR-4529-3p	CLIP-seq
MIRT2231246	hsa-miR-4540	CLIP-seq
MIRT2231247	hsa-miR-4643	CLIP-seq
MIRT1004021	hsa-miR-4646-5p	CLIP-seq
MIRT1004022	hsa-miR-4652-5p	CLIP-seq
MIRT1997582	hsa-miR-4666-5p	CLIP-seq
MIRT1004028	hsa-miR-4701-3p	CLIP-seq
MIRT2231248	hsa-miR-4717-3p	CLIP-seq
MIRT1004030	hsa-miR-4728-5p	CLIP-seq
MIRT1997583	hsa-miR-4802-3p	CLIP-seq
MIRT1004031	hsa-miR-491-5p	CLIP-seq
MIRT2231249	hsa-miR-497	CLIP-seq
MIRT1997584	hsa-miR-506	CLIP-seq
MIRT2231250	hsa-miR-5096	CLIP-seq
MIRT2231251	hsa-miR-545	CLIP-seq
MIRT2231252	hsa-miR-548aa	CLIP-seq
MIRT1997585	hsa-miR-548an	CLIP-seq
MIRT2231253	hsa-miR-548p	CLIP-seq
MIRT1004036	hsa-miR-548u	CLIP-seq
MIRT1004038	hsa-miR-581	CLIP-seq
MIRT1004039	hsa-miR-582-5p	CLIP-seq
MIRT1004040	hsa-miR-583	CLIP-seq
MIRT1004041	hsa-miR-600	CLIP-seq
MIRT1004042	hsa-miR-641	CLIP-seq
MIRT2231254	hsa-miR-885-3p	CLIP-seq
MIRT1003978	hsa-miR-1262	CLIP-seq
MIRT1003981	hsa-miR-1293	CLIP-seq
MIRT2388189	hsa-miR-203	CLIP-seq
MIRT1003989	hsa-miR-3144-5p	CLIP-seq
MIRT1003991	hsa-miR-3191	CLIP-seq
MIRT1004016	hsa-miR-4483	CLIP-seq
MIRT1004022	hsa-miR-4652-5p	CLIP-seq
MIRT1004028	hsa-miR-4701-3p	CLIP-seq
MIRT1004031	hsa-miR-491-5p	CLIP-seq
MIRT2449896	hsa-miR-3153	CLIP-seq
MIRT2449897	hsa-miR-3652	CLIP-seq
MIRT1004004	hsa-miR-3692	CLIP-seq
MIRT2449898	hsa-miR-4430	CLIP-seq
MIRT2449899	hsa-miR-4505	CLIP-seq
MIRT1004021	hsa-miR-4646-5p	CLIP-seq
MIRT2449900	hsa-miR-4668-5p	CLIP-seq
MIRT2231248	hsa-miR-4717-3p	CLIP-seq
MIRT1004039	hsa-miR-582-5p	CLIP-seq
MIRT1003984	hsa-miR-2110	CLIP-seq
MIRT1004009	hsa-miR-4271	CLIP-seq
MIRT1004015	hsa-miR-4463	CLIP-seq
MIRT1004024	hsa-miR-4667-5p	CLIP-seq
MIRT1004027	hsa-miR-4700-5p	CLIP-seq
MIRT1004029	hsa-miR-4725-3p	CLIP-seq
MIRT1004040	hsa-miR-583	CLIP-seq
MIRT1003975	hsa-miR-1228	CLIP-seq
MIRT2449896	hsa-miR-3153	CLIP-seq
MIRT1003992	hsa-miR-3192	CLIP-seq
MIRT1003993	hsa-miR-326	CLIP-seq
MIRT1003994	hsa-miR-330-5p	CLIP-seq
MIRT2449897	hsa-miR-3652	CLIP-seq
MIRT1004002	hsa-miR-3689a-3p	CLIP-seq
MIRT1004003	hsa-miR-3689c	CLIP-seq
MIRT1004004	hsa-miR-3692	CLIP-seq
MIRT1004012	hsa-miR-4314	CLIP-seq
MIRT2449898	hsa-miR-4430	CLIP-seq
MIRT2449899	hsa-miR-4505	CLIP-seq
MIRT1004021	hsa-miR-4646-5p	CLIP-seq
MIRT2449900	hsa-miR-4668-5p	CLIP-seq
MIRT2231248	hsa-miR-4717-3p	CLIP-seq
MIRT1004030	hsa-miR-4728-5p	CLIP-seq
MIRT1004039	hsa-miR-582-5p	CLIP-seq
MIRT1003975	hsa-miR-1228	CLIP-seq
MIRT2449896	hsa-miR-3153	CLIP-seq
MIRT1003992	hsa-miR-3192	CLIP-seq
MIRT1003993	hsa-miR-326	CLIP-seq
MIRT1003994	hsa-miR-330-5p	CLIP-seq
MIRT2449897	hsa-miR-3652	CLIP-seq
MIRT1004002	hsa-miR-3689a-3p	CLIP-seq
MIRT1004003	hsa-miR-3689c	CLIP-seq
MIRT1004004	hsa-miR-3692	CLIP-seq
MIRT1004012	hsa-miR-4314	CLIP-seq
MIRT2449898	hsa-miR-4430	CLIP-seq
MIRT2449899	hsa-miR-4505	CLIP-seq
MIRT1004021	hsa-miR-4646-5p	CLIP-seq
MIRT2449900	hsa-miR-4668-5p	CLIP-seq
MIRT2231248	hsa-miR-4717-3p	CLIP-seq
MIRT1004030	hsa-miR-4728-5p	CLIP-seq
MIRT1004039	hsa-miR-582-5p	CLIP-seq

Show/Hide all (5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IMP	34694367
GO:0005515	Function	Protein binding	IPI	16169070, 22365833, 25416956, 31515488, 32296183, 33961781, 34694367
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	34694367
GO:0016791	Function	Phosphatase activity	IBA

MIM	HGNC	e!Ensembl
608866	1162	ENSG00000148690

Q70Z53

Protein name

Protein FRA10AC1

Protein function

May be involved in pre-mRNA splicing.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09725	Fra10Ac1	104 → 220	Folate-sensitive fragile site protein Fra10Ac1	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver. {ECO:0000269|PubMed:15203205}.

Sequence

MHGHGGYDSDFSDDERCGESSKRKKRTVEDDLLLQKPFQKEKHGKVAHKQVAAELLDREE
ARNRRFHLIAMDAYQRHTKFVNDYILYYGGKKEDFKRLGENDKTDLDVIRENHRFLWNEE
DEMDMTWEKRLAKKYYDKLFKEYCIADLSKYKENKFGFRWRVEKEVISGKGQFFCGNKYC
DKKEGLKSWEVNFGYIEHGEKRNALVKLRLCQECSIKLNFHHRRKEIKSKKRKDKTKKDC
EESSHKKSRLSSAEEASKKKDKGHSSSKKSEDSLLRNSDEEESASESELWKGPLPETDEK
SQEEEFDEYFQDLFL

Sequence length

315

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Pathogenic	rs199549545	RCV005931776	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	Pathogenic; Likely pathogenic	rs2492662538, rs1427003828, rs555127846, rs199549545, rs764976937, rs2492694754	RCV002305683 RCV002305684 RCV002305685 RCV002305687 RCV003479931 RCV003989221 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Developmental Disabilities	Developmental disability	Pubtator	34694367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34694367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34694367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34694367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FRA10AC1 (FRA10A associated CGG repeat 1)