APAF1 (GeneID: 317) | Homo sapiens
Description: apoptotic peptidase activating factor 1 [Source:HGNC Symbol;Acc:HGNC:576]
Synonyms: APAF-1, CED4
Other ID(s): HGNC:576, ENSG00000120868
Protein Accession Numbers: ENST00000357310, ENST00000552268, ENST00000550527, NP_863659, ENST00000547045, NP_037361, ENST00000339433, ENST00000551964.1, ENST00000549007, NP_863658, ENST00000359972, NP_001151, ENST00000333991, ENST00000551964, ENST00000547743, NP_863651
Statistics: ClinVar(10) gnomAD(920) COSMIC(374) PTM(55)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000333991 ENST00000339433 ENST00000357310 ENST00000359972 ENST00000547045 ENST00000547743 ENST00000549007 ENST00000550527 You are here now! ENST00000551964 ENST00000552268 NP_001151 NP_037361 You are here now! NP_863651 NP_863658 NP_863659


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00619 CARD Caspase recruitment domain 6-90 CL0041 Death Homo sapiens
PF00931 NB-ARC NB-ARC domain 129-374 CL0023 P-loop_NTPase Homo sapiens
PF17908 APAF1_C APAF-1 helical domain 453-587 Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 733-771 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 1118-1155 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 647-685 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 872-910 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 689-729 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 1167-1203 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 605-643 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 1075-1113 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 992-1031 CL0186 Beta_propeller Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.545 0.655
Carcinoma, Transitional Cell Neoplasms ; 0.545 0.655
Eye Abnormalities Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.545 0.655
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.545 0.655
Retinal Detachment Eye Diseases ; 0.545 0.655
Skin Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.545 0.655
Unipolar Depression Mental Disorders ; 0.545 0.655
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.545 0.655
Retinal Pigment Epithelial Detachment Eye Diseases ; 0.545 0.655
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.545 0.655
Chromophobe Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.545 0.655
Sarcomatoid Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.545 0.655
Collecting Duct Carcinoma of the Kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.545 0.655
Major Depressive Disorder Mental Disorders ; 0.545 0.655
Papillary Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.545 0.655
NO RESULT FOUND
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