CHRNA7, CHRFAM7A (GeneID: 89832) | Homo sapiens
Description: CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion [Source:HGNC Symbol;Acc:HGNC:15781], cholinergic receptor nicotinic alpha 7 subunit [Source:HGNC Symbol;Acc:HGNC:1960]
Synonyms: CHRNA7-2, CHRNA7, D-10, NACHRA7, CHRNA7-DR1
Other ID(s): ENSG00000274542, ENSG00000166664, HGNC:1960, HGNC:15781, ENSG00000175344, ENSG00000282088, ENSG00000275917
Protein Accession Numbers: ENST00000299847, NP_647536, NP_000737, ENST00000454250, ENST00000397827, ENST00000562729, ENST00000455693, ENST00000437966, ENST00000306901, NP_683709, NP_001177384, ENST00000454250.3, ENST00000401522
Statistics: gnomAD(93) PTM(8)
Post translational modifications (PTM) by Type

∙ 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.
ENST00000299847 ENST00000306901 ENST00000397827 ENST00000401522 ENST00000437966 ENST00000454250 ENST00000455693 ENST00000562729 NP_647536 NP_683709


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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Bipolar Disorder Mental Disorders ; 0.672 0.207
Schizophrenia Mental Disorders ; 0.672 0.207
NO RESULT FOUND
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