Gene Gene information from NCBI Gene database.
Entrez ID 53336
Gene name CPX chromosome region candidate 1
Gene symbol CPXCR1
Synonyms (NCBI Gene)
CT77
Chromosome X
Chromosome location Xq21.31
Summary This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has
miRNA miRNA information provided by mirtarbase database.
7
miRTarBase ID miRNA Experiments Reference
MIRT907806 hsa-miR-4434 CLIP-seq
MIRT907807 hsa-miR-4516 CLIP-seq
MIRT907808 hsa-miR-4531 CLIP-seq
MIRT907809 hsa-miR-4802-5p CLIP-seq
MIRT739456 hsa-miR-139-5p CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301055 2332 ENSG00000147183
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N123
Protein name CPX chromosomal region candidate gene 1 protein (Cancer/testis antigen 77) (CT77)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of fetal tissues. {ECO:0000269|PubMed:11499681}.
Sequence
MSYPTKEGSDTAGNAHKNSENEPPNDCSTDIESPSADPNMIYQVETNPINREPGTATSQE
DVVPQAAENSELETEIQKDQREEDLKEELLLLQTPIPRKLVSHKPLNDRSRSHSGKVEMK
ANNFPINHKTRFRLSTSWRVPFINSHEIRSMILHLLCDRYFSQAAGCQNTMWVKRKYIAC
LYHPNSFTHHERAITFRRPSRVHYYRPLTERMTSGKFCKSTDTKGKCRFRAIVRSVLFVS
QIQIESIFNIKGFVDILTYIHTMNVMITNTNNGWKYFCPICGRLFNTYSELRQHSCSSSG
N
Sequence length 301
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 Evidence Score
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cleft Lip Associate 28877219
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 27609023
★☆☆☆☆
Found in Text Mining only
Leiomyoma Associate 21685710
★☆☆☆☆
Found in Text Mining only
Obesity Associate 28428959
★☆☆☆☆
Found in Text Mining only
Obesity Abdominal Associate 28428959
★☆☆☆☆
Found in Text Mining only
Schizophrenia Associate 36982982
★☆☆☆☆
Found in Text Mining only