AutismKB 2.0

Evidence Details for GIMAP1


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Basic Information Top
Gene Symbol:GIMAP1 ( HIMAP1,IMAP1,IMAP38 )
Gene Full Name: GTPase, IMAP family member 1
Band: 7q36.1
Quick LinksEntrez ID:170575; OMIM: 608084; Uniprot ID:GIMA1_HUMAN; ENSEMBL ID: ENSG00000213203; HGNC ID: 23237
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GIMAP1|170575|nucleotide
ATGGGAGGAAGGAAGATGGCGACAGATGAAGAAAATGTCTATGGTTTAGAAGAGAACGCTCAGTCCCGGCAGGAGTCCACGCGGAGGCTCATCCTTGTTGGGAGA
ACAGGGGCCGGGAAGAGCGCCACTGGGAACAGCATCCTGGGCCAGAGACGGTTCTTCTCCAGGCTGGGGGCCACGTCTGTGACCAGGGCCTGCACCACGGGCAGC
CGCAGGTGGGACAAGTGCCACGTGGAAGTCGTGGACACTCCGGACATTTTCAGCTCCCAAGTGTCCAAGACAGATCCTGGCTGTGAGGAGAGAGGTCACTGCTAC
CTGCTCTCGGCCCCCGGACCCCACGCGCTGCTCCTGGTGACCCAGTTGGGTCGGTTCACCGCCCAGGACCAGCAGGCGGTGAGGCAGGTGAGGGACATGTTCGGG
GAGGACGTCCTAAAATGGATGGTCATCGTCTTCACCAGGAAGGAGGACCTGGCCGGGGGCTCCCTGCACGATTACGTGAGCAACACAGAGAACCGGGCCTTGCGC
GAGCTGGTGGCCGAGTGCGGGGGCCGGGTCTGTGCCTTTGATAACCGGGCCACCGGCCGGGAGCAGGAAGCCCAGGTGGAGCAGCTGCTGGGGATGGTCGAGGGC
TTGGTGCTGGAGCACAAGGGCGCCCATTACTCCAACGAGGTGTATGAGCTGGCGCAGGTGCTGCGCTGGGCAGGCCCTGAGGAGCGGCTCCGGCGGGTGGCGGAG
CGCGTGGCAGCCAGGGTGCAGAGGAGGCCATGGGGCGCCTGGCTGTCGGCCCGGCTGTGGAAGTGGCTGAAGTCCCCCAGGAGCTGGAGGCTGGGCCTGGCCCTG
CTGCTGGGGGGCGCGCTCCTGTTCTGGGTGCTGCTCCACAGGCGGTGGTCGGAGGCCGTTGCGGAGGTCGGGCCTGACTGA


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>GIMAP1|170575|protein
MGGRKMATDEENVYGLEENAQSRQESTRRLILVGRTGAGKSATGNSILGQRRFFSRLGATSVTRACTTGSRRWDKCHVEVVDTPDIFSSQVSKTDPGCEERGHCY
LLSAPGPHALLLVTQLGRFTAQDQQAVRQVRDMFGEDVLKWMVIVFTRKEDLAGGSLHDYVSNTENRALRELVAECGGRVCAFDNRATGREQEAQVEQLLGMVEG
LVLEHKGAHYSNEVYELAQVLRWAGPEERLRRVAERVAARVQRRPWGAWLSARLWKWLKSPRSWRLGLALLLGGALLFWVLLHRRWSEAVAEVGPD


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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 (1) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Molloy, 2005 USA microsatellite-based genomic screenASD 34 - 34 - - - -
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

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  (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