AutismKB 2.0

Evidence Details for AZIN1


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Basic Information Top
Gene Symbol:AZIN1 ( MGC3832,MGC691,OAZI,OAZIN,ODC1L )
Gene Full Name: antizyme inhibitor 1
Band: 8q22.3
Quick LinksEntrez ID:51582; OMIM: 607909; Uniprot ID:AZIN1_HUMAN; ENSEMBL ID: ENSG00000155096; HGNC ID: 16432
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AZIN1|51582|nucleotide
ATGAAAGGATTTATTGATGATGCAAACTACTCCGTTGGCCTGTTGGATGAAGGAACAAACCTTGGAAATGTTATTGATAACTATGTTTATGAACATACCCTGACA
GGGAAAAATGCATTTTTTGTGGGAGATCTTGGAAAGATTGTGAAGAAACACAGTCAATGGCAGAATGTAGTGGCTCAGATAAAGCCATTCTACACAGTGAAGTGC
AACTCTGCTCCAGCTGTACTTGAGATTTTGGCAGCTCTTGGAACCGGATTTGCTTGTTCCAGTAAAAATGAAATGGCTTTAGTGCAAGAGTTGGGTGTACCTCCA
GAAAACATTATTTACATAAGTCCTTGCAAGCAAGTGTCTCAGATAAAGTATGCAGCAAAAGTTGGAGTGAATATCCTGACATGTGACAATGAAATTGAATTGAAG
AAAATTGCACGTAATCACCCAAATGCCAAGGTCTTACTACATATTGCAACAGAAGATAATATTGGAGGTGAAGAGGGTAACATGAAGTTTGGCACTACCCTGAAG
AACTGTAGGCATCTCTTGGAATGTGCTAAGGAACTTGATGTCCAAATAATTGGGGTTAAATTTCATGTTTCGAGTGCTTGCAAAGAATCTCAAGTATATGTACAT
GCTCTATCTGATGCTCGATGTGTGTTTGACATGGCTGGAGAAATTGGCTTTACGATGAACATGTTAGACATTGGTGGAGGATTCACGGGAACTGAATTTCAATTG
GAAGAGGTTAATCATGTTATCAGCCCTCTGTTGGATATCTACTTTCCTGAAGGATCTGGTGTTAAGATAATTTCAGAACCCGGAAGCTACTATGTGTCTTCTGCA
TTTACACTCGCAGTTAATATCATAGCAAAGAAAGTTGTTGAAAATGATAAATTTCCCTCTGGAGTAGAAAAAACCGGAAGTGATGAACCAGCCTTCATGTATTAT
ATGAATGATGGTGTTTATGGTTCTTTTGCAAGTAAACTGTCTGAGGACTTAAATACCATTCCAGAGGTTCACAAGAAATACAAGGAAGATGAGCCTCTGTTTACA
AGCAGCCTTTGGGGTCCATCCTGTGATGAGCTTGATCAAATTGTGGAAAGCTGTCTTCTTCCTGAGCTGAATGTGGGAGATTGGCTTATCTTTGATAACATGGGA
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>AZIN1|51582|protein
MKGFIDDANYSVGLLDEGTNLGNVIDNYVYEHTLTGKNAFFVGDLGKIVKKHSQWQNVVAQIKPFYTVKCNSAPAVLEILAALGTGFACSSKNEMALVQELGVPP
ENIIYISPCKQVSQIKYAAKVGVNILTCDNEIELKKIARNHPNAKVLLHIATEDNIGGEEGNMKFGTTLKNCRHLLECAKELDVQIIGVKFHVSSACKESQVYVH
ALSDARCVFDMAGEIGFTMNMLDIGGGFTGTEFQLEEVNHVISPLLDIYFPEGSGVKIISEPGSYYVSSAFTLAVNIIAKKVVENDKFPSGVEKTGSDEPAFMYY
MNDGVYGSFASKLSEDLNTIPEVHKKYKEDEPLFTSSLWGPSCDELDQIVESCLLPELNVGDWLIFDNMGADSFHEPSAFNDFQRPAIYYMMSFSDWYEMQDAGI
TSDSMMKNFFFVPSCIQLSQEDSFSAEA
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018