Gene Gene information from NCBI Gene database.
Entrez ID 50626
Gene name Zinc finger TRAF-type containing 1
Gene symbol ZFTRAF1
Synonyms (NCBI Gene)
CHRPCYHR1
Chromosome 8
Chromosome location 8q24.3
miRNA miRNA information provided by mirtarbase database.
48
miRTarBase ID miRNA Experiments Reference
MIRT920213 hsa-miR-3153 CLIP-seq
MIRT920214 hsa-miR-3665 CLIP-seq
MIRT920215 hsa-miR-3689a-3p CLIP-seq
MIRT920216 hsa-miR-3689c CLIP-seq
MIRT920217 hsa-miR-4514 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005634 Component Nucleus IBA
GO:0005635 Component Nuclear envelope IEA
GO:0005737 Component Cytoplasm IEA
GO:0008270 Function Zinc ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616635 17806 ENSG00000187954
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DTL6
Protein name Zinc finger TRAF-type-containing protein 1 (Cysteine and histidine-rich protein 1)
Family and domains
Sequence

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Sequence length
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Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
Neurodevelopmental disorder with hypotonia and gross motor and speech delay Pathogenic; Likely pathogenic rs2537530774, rs2537521774, rs2537521414 RCV003331459
RCV003331460
RCV003332419
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive non-syndromic intellectual disability Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Esophageal carcinoma Esophageal Carcinoma BEFREE 26676980
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 26676980
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of esophagus Esophagus Neoplasm BEFREE 26676980
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26676980
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 26676980
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 31374203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus Esophagus Neoplasm BEFREE 26676980
★☆☆☆☆
Found in Text Mining only