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Gene Gene information from NCBI Gene database.
Entrez ID 54954
Gene name Family with sequence similarity 120 member C
Gene symbol FAM120C
Synonyms (NCBI Gene)
CXorf17ORF34
Chromosome X
Chromosome location Xp11.22
Summary This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 201
miRNA miRNA information provided by mirtarbase database.
211 Show/Hide all (211)
miRTarBase ID miRNA Experiments Reference
MIRT021696 hsa-miR-133a-3p Microarray 21396852
MIRT031340 hsa-miR-18a-5p Sequencing 20371350
MIRT978258 hsa-miR-1236 CLIP-seq
MIRT978259 hsa-miR-1276 CLIP-seq
MIRT978260 hsa-miR-15a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300741 16949 ENSG00000184083
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NX05
Protein name Constitutive coactivator of PPAR-gamma-like protein 2 (Protein FAM120C) (Tumor antigen BJ-HCC-21)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed at low levels in a number of tissues. {ECO:0000269|PubMed:14585507}.
Sequence
MGVQGFQEFLEKRCPGAVVPVDLLKLARTVSRQQQQQHLHRQLPPTAALAPGAPRAARGS
VPLQPPLPPAALGAYSGGAGPIRHHHPAHHFHHHGQAQPGLHPPLPPPPPPQLPGARVLV
DAGSALPRLYGGYQTDWVCGGQWNAMLGYLSALCQACAYPGGDGLELVVMFPGGLGKDRL
AEWGRRCQAERQTAQLIVGHVGNKGTPPPRAWFLPPACLSHCVRLALIRFRVKVFQSLED
HHLEVVAFFRENGFHGLLAHDSEYALYNIPSYYSSHALKLSWNGKNLTTNQFLMQEVAKQ
LGLKRMNFPIFAALLGNHILPDEDLAAFHWSLLGPEHPLASLKVRAHQLVLPPCDVVIKA
VSEYVSSIKDPSNLDVVGKDVFKQSQSRTEDKIERFKKAVEYYSVTTKLSSLPVGPSFLG
FRNNRLGNPPLPRNQVGTISAGKPMFSHQVPQKVKYPPPFPVGPNSSLLFSSHALGESHA
FSEDPMLQNSPFANWAVSYDSSASQFPNYLPSKASPPLGPDSSHSSSSDGDEPNGASSDH
ITEAFHHQPEWGNPNRDRGSWAQPVDTGVSEASLGDGEPHIPSLLSMSTRNHMDITIPPL
PPVAPEVLRVAEHRHRRGLMYPYIYHVLTKGEIKIPVCIEDECNMELPPAALLFRSARQY
VYGVLFSLAETQRKMERLAMRRRLPVEVPSVILKEWSAYKGKSPQTPELVSALTFREWTC
PNLKKLWLGKAVEDKNRRMRAFLACMKSDTPSMLNPANVPTHLLLMCCVLRYMVQWPGGR
ILHRHELDTFLAQAVSTQLYEPDRLQELKIEKLDARGIQLAALFMSGVDTALFANDACGQ
PVPWEHCCPWIYFDGKLFQSKLIKAGRERVSLVELCDGQADLATKVEKMRQSILEGVNMN
HPPPSALLPSPTFVPPMVPSLYPVSLYSRAMGSMPLPPQGRSRGFAGLHPIPPQGGKLEI
AGMVVGQWAGSRSSRGRGSFGMQVVSVGGPGKGHGKEQTGRGSKGHKKGNKQGSSDGVSK
SLELHQGRSRSQVNGNSGALIKEEKSDHRLPAPSQCALSRDSNECNNGNRYLPMNNREKN
HLQEQKLETVAQRKED
Sequence length 1096
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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 Reference Evidence Score
Hepatocellular carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 25258334
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 18498374, 25258334
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism LHGDN 18498374
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 12767996, 23221556 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Kaposi Sarcoma Kaposi Sarcoma BEFREE 28336944, 30305361, 31189709, 31578296, 31694948
★★★★★
★☆☆☆☆
Found in Text Mining only
Pervasive Development Disorder Autism spectrum disorder BEFREE 25258334
★★★★★
★☆☆☆☆
Found in Text Mining only
Sarcoma Kaposi Sarcoma Pubtator 31189709 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Siderius X-linked mental retardation syndrome Syndromic Mental Retardation, X-Linked BEFREE 18498374
★★★★★
★☆☆☆☆
Found in Text Mining only