Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= FAM111B ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: FAM111B * **<color #00a2e8>Official Name</color>**: family with sequence similarity 111 member B * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=374393|374393]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6SJ93|Q6SJ93]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FAM111B&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FAM111B|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615584|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='default' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> No Pfam Domain information is available for this gene. </modal> <modal id='GO_terms' size='lg' title='GO Terms'> No GO term information is available for this gene. </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|-2.52| |[[:results:exp150|SGC0649 7μM R03 exp150]]|1.77| |[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|1.87| |[[:results:exp143|Phenformin 20μM R03 exp143]]|1.9| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 16032 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.21 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='FAM111B Expression in NALM6 Cells: 6.21'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1