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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Moyamoya angiopathy Likely pathogenic rs2040109939 RCV004704493
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FBRSL1-associated neurodevelopmental syndrome Uncertain significance rs1299339182 RCV002227594
FBRSL1-related disorder Uncertain significance; Benign; Likely benign rs1274787495, rs1420336153, rs2541118501, rs538547455, rs180891480 RCV003414540
RCV003402122
RCV003397851
RCV003904782
RCV003943847
See cases Likely benign rs749751607, rs2541447147 RCV003151941
RCV003151942
Syndromic disease Benign rs538547455 RCV003994606
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 35597955
Melanoma Associate 23659246