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