Gene Gene information from NCBI Gene database.
Entrez ID 57666
Gene name Fibrosin like 1
Gene symbol FBRSL1
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q24.33
miRNA miRNA information provided by mirtarbase database.
216
miRTarBase ID miRNA Experiments Reference
MIRT042565 hsa-miR-423-3p CLASH 23622248
MIRT739638 hsa-miR-141 CLIP-seq
MIRT739639 hsa-miR-200a CLIP-seq
MIRT739641 hsa-miR-3130-3p CLIP-seq
MIRT990204 hsa-miR-3151 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620123 29308 ENSG00000112787
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCM7
Protein name Fibrosin-1-like protein (AUTS2-like protein) (HBV X-transactivated gene 9 protein) (HBV XAg-transactivated protein 9)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15336 Auts2 587 791 Autism susceptibility gene 2 protein Family
Sequence
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPA
PRTARPPRRRRRESSSQEEEVIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPR
ESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQPSKQMKVTVSKGGDRDSDDDS
VLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSRANPLVKKEPPAPHRHTPQ
PPPPQPRGLLPTHVPASLGAFAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHL
STSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLPGHPADHELLRQELNTRFLVQ
SAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQHTFAPFPAGLPPTPPAAPPPFDK
YAPKLDSPYFRHSSVSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKVSDPYRAVVKVS
TCWEGPWQGRTLVPPGRPRGARDSRSLQKTWVGVAPAPLSASILSQKPGRWCAVHVQIAW
QIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGAAHPA
SNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEG
SSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLL
EKTRLLSRASP
ATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMP
ARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRG
LELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPAL
DGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTT
PLGGLGPGEARDYSPSRNPPEVEAR
Sequence length 1045
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Polycomb repressive complex  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Moyamoya angiopathy Likely pathogenic rs2040109939 RCV004704493
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma Pubtator 35597955 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease GWASCAT_DG 30525989
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
melanoma Melanoma BEFREE 23659246
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 23659246 Associate
★☆☆☆☆
Found in Text Mining only
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation CTD_human_DG 29892015, 30061737
★☆☆☆☆
Found in Text Mining only
Prostate cancer, familial Prostate cancer CTD_human_DG 29892016
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1 Prostate Cancer, Hereditary CTD_human_DG 29892016
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer GWASCAT_DG 29892016
★★☆☆☆
Found in Text Mining + Unknown/Other Associations