AutismKB 2.0

Evidence Details for GGA1


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Basic Information Top
Gene Symbol:GGA1 ( - )
Gene Full Name: golgi-associated, gamma adaptin ear containing, ARF binding protein 1
Band: 22q13.1
Quick LinksEntrez ID:26088; OMIM: 606004; Uniprot ID:GGA1_HUMAN; ENSEMBL ID: ENSG00000100083; HGNC ID: 17842
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GGA1|26088|nucleotide
ATGGAGCCCGCGATGGAGCCGGAGACTCTGGAGGCGCGAATCAATAGAGCCACGAACCCCCTGAACAAGGAGCTCGACTGGGCCAGCATCAACGGCTTCTGCGAG
CAGCTCAACGAGGACTTTGAGGGGCCTCCACTCGCCACCCGGCTGCTGGCCCACAAGATCCAGTCCCCACAGGAGTGGGAGGCGATCCAGGCCTTGACGGTGCTG
GAAACATGCATGAAGAGCTGCGGCAAGCGGTTCCACGACGAAGTGGGCAAGTTCCGCTTTCTCAACGAGCTCATCAAGGTCGTGTCTCCCAAGTATCTGGGCTCT
CGGACATCGGAGAAGGTGAAGAACAAGATCTTGGAGCTCCTCTACAGCTGGACAGTGGGCCTGCCCGAGGAGGTGAAAATCGCAGAGGCCTACCAGATGCTAAAG
AAGCAGGGGATTGTAAAGTCCGACCCCAAGCTTCCAGATGACACTACCTTTCCCCTTCCTCCTCCACGGCCGAAGAATGTGATCTTTGAAGATGAGGAGAAATCC
AAGATGCTGGCCCGCCTGCTGAAGAGCTCCCATCCCGAAGACCTCCGCGCAGCCAATAAGCTCATCAAAGAGATGGTGCAGGAGGACCAGAAGCGGATGGAGAAG
ATCTCGAAGAGGGTGAATGCCATCGAGGAGGTGAACAACAATGTGAAACTGCTCACGGAGATGGTGATGAGCCACAGCCAGGGCGGCGCAGCAGCTGGCAGCAGC
GAGGACCTCATGAAGGAACTGTACCAGCGCTGTGAGCGGATGCGGCCCACGCTCTTCCGACTGGCGAGTGACACAGAGGACAATGATGAGGCCTTAGGCCTCAGT
GACCCCACACCCCCTTCAGGCCCAAGCCTGGATGGTACCGGATGGAACAGCTTCCAGTCGTCGGATGCCACTGAGCCCCCAGCCCCTGCTCTGGCCCAGGCCCCC
AGTATGGAAAGCCGACCCCCAGCGCAGACATCCCTGCCAGCAAGCAGCGGTCTGGACGACCTAGACCTCCTGGGGAAGACCCTCCTGCAGCAGTCGCTGCCCCCG
GAATCCCAGCAAGTGCGGTGGGAGAAGCAGCAGCCAACCCCCCGGCTCACACTCCGGGACCTGCAGAATAAGAGCAGCAGCTGCAGCTCCCCCAGCTCCAGCGCC
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>GGA1|26088|protein
MEPAMEPETLEARINRATNPLNKELDWASINGFCEQLNEDFEGPPLATRLLAHKIQSPQEWEAIQALTVLETCMKSCGKRFHDEVGKFRFLNELIKVVSPKYLGS
RTSEKVKNKILELLYSWTVGLPEEVKIAEAYQMLKKQGIVKSDPKLPDDTTFPLPPPRPKNVIFEDEEKSKMLARLLKSSHPEDLRAANKLIKEMVQEDQKRMEK
ISKRVNAIEEVNNNVKLLTEMVMSHSQGGAAAGSSEDLMKELYQRCERMRPTLFRLASDTEDNDEALGLSDPTPPSGPSLDGTGWNSFQSSDATEPPAPALAQAP
SMESRPPAQTSLPASSGLDDLDLLGKTLLQQSLPPESQQVRWEKQQPTPRLTLRDLQNKSSSCSSPSSSATSLLHTVSPEPPRPPQQPVPTELSLASITVPLESI
KPSNILPVTVYDQHGFRILFHFARDPLPGRSDVLVVVVSMLSTAPQPIRNIVFQSAVPKVMKVKLQPPSGTELPAFNPIVHPSAITQVLLLANPQKEKVRLRYKL
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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