Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80820
Gene name Gene Name - the full gene name approved by the HGNC.
Endonuclease/exonuclease/phosphatase family domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EEPD1
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC107
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT485633 hsa-miR-216b-3p PAR-CLIP 23592263
MIRT485632 hsa-miR-939-3p PAR-CLIP 23592263
MIRT485630 hsa-miR-6852-5p PAR-CLIP 23592263
MIRT485631 hsa-miR-6742-3p PAR-CLIP 23592263
MIRT485629 hsa-miR-8064 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IMP 28082258
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617192 22223 ENSG00000122547
Protein
UniProt ID Q7L9B9
Protein name Endonuclease/exonuclease/phosphatase family domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12836 HHH_3 35 99 Domain
PF12836 HHH_3 134 196 Domain
Sequence
MGSTLGCHRSIPRDPSDLSHSRKFSAACNFSNILVNQERLNINTATEEELMTLPGVTRAV
ARSIVEYREYIGGFKKVEDLALVSGVGATKLEQVKFEIC
VSSKGSSAQHSPSSLRRDLLA
EQQPHHLATAVPLTPRVNINTATPAQLMSVRGLSEKMALSIVDFRREHGPFRSVEDLVRM
DGINAAFLDRIRHQVF
AERSRPPSTHTNGGLTFTAKPHPSPTSLSLQSEDLDLPPGGPTQ
IISTRPSVEAFGGTRDGRPVLRLATWNLQGCSVEKANNPGVREVVCMTLLENSIKLLAVQ
ELLDREALEKFCTELNQPTLPNIRKWKGPRGCWKAVVAEKPSSQLQKGAGYAGFLWDAAA
GMELRDAGSQESSPSNGHGKLAGPSPYLGRFKVGSHDLTLVNLHLAALTLLGSENPSKNH
SDGHRLASFAQTLQETLKGEKDVIILGDFGQGPDSNDYDILRKEKFHHLIPAHTFTNIST
KNPQGSKSLDNIWISKSLKKVFTGHWAVVREGLTNPWIPDNWSWGGVASEHCPVLAEFYT
EKDWSKKDAPRNGSGVALERSEANIKHER
Sequence length 569
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 29145865
Colonic Neoplasms Associate 38238555
Neoplasms Associate 29145865, 38238555
Ovarian Neoplasms Associate 34001952
Prostatic Neoplasms Associate 34001952