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FANK1 (fibronectin type III and ankyrin repeat domains 1)

Identity

Alias (NCBI)HSD13
HGNC (Hugo) FANK1
HGNC Previous namefibronectin type 3 and ankyrin repeat domains 1
LocusID (NCBI) 92565
Atlas_Id 56807
Location 10q26.2  [Link to chromosome band 10q26]
Location_base_pair Starts at 125896564 and ends at 126009592 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GNB1 (1p36.33) / FANK1 (10q26.2)LHPP (10q26.13) / FANK1 (10q26.2)WBP4 (13q14.11) / FANK1 (10q26.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

Nomenclature
HGNC (Hugo)FANK1   23527
Cards
Entrez_Gene (NCBI)FANK1    fibronectin type III and ankyrin repeat domains 1
AliasesHSD13
GeneCards (Weizmann)FANK1
Ensembl hg19 (Hinxton)ENSG00000203780 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203780 [Gene_View]  ENSG00000203780 [Sequence]  chr10:125896564-126009592 [Contig_View]  FANK1 [Vega]
ICGC DataPortalENSG00000203780
TCGA cBioPortalFANK1
AceView (NCBI)FANK1
Genatlas (Paris)FANK1
SOURCE (Princeton)FANK1
Genetics Home Reference (NIH)FANK1
Genomic and cartography
GoldenPath hg38 (UCSC)FANK1  -     chr10:125896564-126009592 +  10q26.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FANK1  -     10q26.2   [Description]    (hg19-Feb_2009)
GoldenPathFANK1 - 10q26.2 [CytoView hg19]  FANK1 - 10q26.2 [CytoView hg38]
ImmunoBaseENSG00000203780
genome Data Viewer NCBIFANK1 [Mapview hg19]  
OMIM611640   
Gene and transcription
Genbank (Entrez)AK021437 AK304407 AY251163 AY358154 BC024189
RefSeq transcript (Entrez)NM_001350939 NM_001363549 NM_145235
Consensus coding sequences : CCDS (NCBI)FANK1
Alternative Splicing GalleryENSG00000203780
Gene ExpressionFANK1 [ NCBI-GEO ]   FANK1 [ EBI - ARRAY_EXPRESS ]   FANK1 [ SEEK ]   FANK1 [ MEM ]
Gene Expression Viewer (FireBrowse)FANK1 [ Firebrowse - Broad ]
GenevisibleExpression of FANK1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92565
GTEX Portal (Tissue expression)FANK1
Human Protein AtlasENSG00000203780-FANK1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TC84   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TC84  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TC84
PhosPhoSitePlusQ8TC84
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    FN3 (PS50853)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    FN3_dom    FN3_sf    Ig-like_fold   
Domain families : Pfam (Sanger)Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  FN3 (SM00060)  
Conserved Domain (NCBI)FANK1
SuperfamilyQ8TC84
AlphaFold pdb e-kbQ8TC84   
Human Protein Atlas [tissue]ENSG00000203780-FANK1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q8TC84
IntAct (EBI)Q8TC84
BioGRIDFANK1
STRING (EMBL)FANK1
ZODIACFANK1
Ontologies - Pathways
QuickGOQ8TC84
Ontology : AmiGOchromatin  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  cilium  ciliary basal body  regulation of apoptotic process  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of transcription, DNA-templated  positive regulation of DNA-binding transcription factor activity  positive regulation of DNA-binding transcription factor activity  ciliary base  
Ontology : EGO-EBIchromatin  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  cilium  ciliary basal body  regulation of apoptotic process  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of transcription, DNA-templated  positive regulation of DNA-binding transcription factor activity  positive regulation of DNA-binding transcription factor activity  ciliary base  
NDEx NetworkFANK1
Atlas of Cancer Signalling NetworkFANK1
Wikipedia pathwaysFANK1
Orthology - Evolution
OrthoDB92565
GeneTree (enSembl)ENSG00000203780
Phylogenetic Trees/Animal Genes : TreeFamFANK1
Homologs : HomoloGeneFANK1
Homology/Alignments : Family Browser (UCSC)FANK1
Gene fusions - Rearrangements
Fusion : QuiverFANK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFANK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FANK1
dbVarFANK1
ClinVarFANK1
MonarchFANK1
1000_GenomesFANK1 
Exome Variant ServerFANK1
GNOMAD BrowserENSG00000203780
Varsome BrowserFANK1
Genomic Variants (DGV)FANK1 [DGVbeta]
DECIPHERFANK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFANK1 
Mutations
ICGC Data PortalFANK1 
TCGA Data PortalFANK1 
Broad Tumor PortalFANK1
OASIS PortalFANK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFANK1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFANK1
Mutations and Diseases : HGMDFANK1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutasearch FANK1
DgiDB (Drug Gene Interaction Database)FANK1
DoCM (Curated mutations)FANK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FANK1 (select a term)
Cancer3DFANK1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611640   
Orphanet
DisGeNETFANK1
MedgenFANK1
Genetic Testing Registry FANK1
NextProtQ8TC84 [Medical]
GENETestsFANK1
Target ValidationFANK1
Huge Navigator FANK1 [HugePedia]
ClinGenFANK1
Clinical trials, drugs, therapy
MyCancerGenomeFANK1
Protein Interactions : CTDFANK1
Pharm GKB GenePA134976727
PharosQ8TC84
Clinical trialFANK1
Miscellaneous
canSAR (ICR)FANK1
HarmonizomeFANK1
DataMed IndexFANK1
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFANK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 15 22:13:32 CEST 2021

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