Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 64319
Gene name Fibrosin
Gene symbol FBRS
Synonyms (NCBI Gene)
FBSFBS1
Chromosome 16
Chromosome location 16p11.2
Summary Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1259852690 C>G Likely-pathogenic Coding sequence variant, missense variant
rs1567547614 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
127 Show/Hide all (127)
miRTarBase ID miRNA Experiments Reference
MIRT041717 hsa-miR-484 CLASH 23622248
MIRT039273 hsa-miR-671-5p CLASH 23622248
MIRT037203 hsa-miR-877-3p CLASH 23622248
MIRT703642 hsa-miR-29a-3p HITS-CLIP 23313552
MIRT703641 hsa-miR-29c-3p HITS-CLIP 23313552
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608601 20442 ENSG00000156860
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAH7
Protein name Probable fibrosin-1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15336 Auts2 82 → 282 Autism susceptibility gene 2 protein Family
Sequence
MFEKYPGKMEGLFRHNPYTAFPPAVPGLPPGLPPAVSFGSLQGAFQPKSTNPELPPRLGP
VPSGLSQKGTQIPDHFRPPLRKPGKWCAMHVRVAYMILRHQEKMKGDSHKLDFRNDLLPC
LPGPYGALPPGQELSHPASLFTATGAVHAAANPFTAAPGAHGPFLSPSTHIDPFGRPTSF
ASLAALSNGAFGGLGSPTFNSGAVFAQKESPGAPPAFASPPDPWGRLHRSPLTFPAWVRP
PEAARTPGSDKERPVERREPSITKEEKDRDLPFSRPQLRVSP
ATPKARAGEEGPRPTKES
VRVKEERKEEAAAAAAAAAAAAAAAAAAATGPQGLHLLFERPRPPPFLGPSPPDRCAGFL
EPTWLAAPPRLARPPRFYEAGEELTGPGAVAAARLYGLEPAHPLLYSRLAPPPPPAAAPG
TPHLLSKTPPGALLGAPPPLVPAPRPSSPPRGPGPARADR
Sequence length 460
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Polycomb repressive complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
Short stature Likely pathogenic rs1567547614, rs1259852690 RCV000736120
RCV000736121
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (36)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 30891164
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31726193
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 18338817
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31726193
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25435410, 27268613
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21372829
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 21372829
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 30324578
★★★★★
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 28151034, 31486697
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 29742131
★★★★★
★☆☆☆☆
Found in Text Mining only