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, NP_060121, ENST00000367800.4, ENST00000529865, NP_001128304, ENST00000367798, ENST00000524469, ENST00000534469, ENST00000457866, NP_001337433, ENST00000367800, ENST00000528103, NP_001128303, ENST00000327035, ENST00000488690, ENST00000417892, ENST00000531788, NP_001337432, ENST00000367799, ENST00000527681 |
Statistics: | ClinVar(282) gnomAD(977) COSMIC(361) PTM(45) |
∙ 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
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 |
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 |