AutismKB 2.0

Evidence Details for GIMAP6


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Basic Information Top
Gene Symbol:GIMAP6 ( DKFZp686A01175,FLJ22690,IAN6,hIAN2 )
Gene Full Name: GTPase, IMAP family member 6
Band: 7q36.1
Quick LinksEntrez ID:474344; OMIM: NA; Uniprot ID:GIMA6_HUMAN; ENSEMBL ID: ENSG00000133561; HGNC ID: 21918
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GIMAP6|474344|nucleotide
ATGGAGGAAGAAGAATATGAACAAATTCCCCAGGAGAATCCCCCAGAAGAGCTGTCCCAGGATCCTGTGCTGGAGCTGTCAGGAGGTCTAAGGGAGAAAGAACAG
AAGACCCCAAGGAGACTGAGGCTCATTCTCATGGGGAAAACAGGGAGTGGGAAGAGTGCAACAGGAAACAGCATCCTCGGCAGGGACGTCTTCGAGTCTAAACTC
AGCACCAGACCCGTGACCAAGACCTCCCAGAGACGGAGCCGAGAGTGGGCTGGGAAGGAGCTTGAGGTGATTGACACACCCAACATTCTGTCCCCCCAGGTCTCG
CCAGAGGTGGCAGACGCTATCTGCCAAGCCATCGTCTTATCCGCCCCAGGGCCCCACGCCGTGCTCCTGGTGACACAACTGGGCCGGTTCACGGATGAGGATCAG
CAGGTGGTCAGGCGCCTGCAGGAGGTCTTTGGAGTGGGGGTTCTGGGTCACACCATCCTGGTGTTCACCCGGAAGGAAGACCTGGCTGGCGGCTCCCTGGAAGAC
TATGTGCGAGAGACCAACAACCAGGCCCTTGCCTGGCTGGATGTGACCCTTGCACGGCGCCATTGCGGCTTCAACAACAGGGCACAGGGGGAGGAGCAGGAGGCC
CAACTGCGAGAGCTCATGGAGAAAGTTGAAGCCATTATGTGGGAAAACGAAGGAGATTATTACAGCAACAAGGCTTACCAATATACCCAGCAAAACTTTCGGCTG
AAAGAACTACAGGAAAGGCAAGTAAGCCAGGGCCAAGGCTCTGAGGACGTGCCTGGTGAGGAGTCTTGGCTGGAAGGACTGTCCCAGATCCAGAAGGAATCTGAG
GAAGCCCACAGATGCCTGCTGGGGAAGGCTGACCTTTGA


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>GIMAP6|474344|protein
MEEEEYEQIPQENPPEELSQDPVLELSGGLREKEQKTPRRLRLILMGKTGSGKSATGNSILGRDVFESKLSTRPVTKTSQRRSREWAGKELEVIDTPNILSPQVS
PEVADAICQAIVLSAPGPHAVLLVTQLGRFTDEDQQVVRRLQEVFGVGVLGHTILVFTRKEDLAGGSLEDYVRETNNQALAWLDVTLARRHCGFNNRAQGEEQEA
QLRELMEKVEAIMWENEGDYYSNKAYQYTQQNFRLKELQERQVSQGQGSEDVPGEESWLEGLSQIQKESEEAHRCLLGKADL


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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
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