AHI1 (GeneID: 54806) | Homo sapiens
Description: Abelson helper integration site 1 [Source:HGNC Symbol;Acc:HGNC:21575]
Synonyms: ORF1, AHI-1, JBTS3, dJ71N10.1
Other ID(s): HGNC:21575, ENSG00000135541
Protein Accession Numbers: NP_001128302, ENST00000265602, ENST00000475846, ENST00000529865, NP_060121, ENST00000367800.4, ENST00000524469, NP_001128304, ENST00000367798, ENST00000534469, ENST00000457866, ENST00000528103, NP_001337433, ENST00000367800, NP_001128303, ENST00000327035, ENST00000488690, ENST00000531788, ENST00000417892, ENST00000527681, NP_001337432, ENST00000367799
Statistics: ClinVar(282) gnomAD(977) COSMIC(361) PTM(45)
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.
ENST00000265602 ENST00000327035 You are here now! ENST00000367798 ENST00000367799 ENST00000367800 ENST00000417892 ENST00000457866 ENST00000475846 ENST00000488690 ENST00000524469 ENST00000527681 ENST00000528103 ENST00000529865 ENST00000531788 ENST00000534469 NP_001128302 NP_001128303 NP_001128304 You are here now! NP_001337432 NP_001337433 NP_060121


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
PF00018 SH3_1 SH3 domain 1057-1103 CL0010 SH3 Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 644-682 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 735-772 CL0186 Beta_propeller Homo sapiens
PF00400 WD40 WD domain, G-beta repeat 835-871 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
Autistic Disorder Mental Disorders ; 0.565 0.793
Bipolar Disorder Mental Disorders ; 0.565 0.793
Cerebellar Diseases Nervous System Diseases ; 0.565 0.793
Congenital ocular coloboma (disorder) Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.793
Profound Mental Retardation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.565 0.793
Mental Retardation, Psychosocial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.565 0.793
Retinal Degeneration Eye Diseases ; 0.565 0.793
Retinitis Pigmentosa Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.793
Schizophrenia Mental Disorders ; 0.565 0.793
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.793
Immunoglobulin A deficiency (disorder) Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.565 0.793
Familial aplasia of the vermis Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.793
Mental deficiency Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.565 0.793
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.565 0.793
JOUBERT SYNDROME 3 Nervous System Diseases ; Eye Diseases ; Pathological Conditions, Signs and Symptoms ; 0.565 0.793
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.565 0.793
Joubert syndrome with ocular defect N/A 0.565 0.793
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.793
NO RESULT FOUND
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