AutismKB 2.0

Evidence Details for VASH1


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Basic Information Top
Gene Symbol:VASH1 ( KIAA1036 )
Gene Full Name: vasohibin 1
Band: 14q24.3
Quick LinksEntrez ID:22846; OMIM: 609011; Uniprot ID:VASH1_HUMAN; ENSEMBL ID: ENSG00000071246; HGNC ID: 19964
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VASH1|22846|nucleotide
ATGCCAGGGGGGAAGAAGGTGGCTGGGGGTGGCAGCAGCGGTGCCACTCCAACGTCCGCTGCGGCCACCGCCCCCTCTGGGGTCAGGCGTTTGGAGACCAGCGAA
GGAACCTCAGCCCAGAGAGATGAGGAGCCAGAAGAGGAAGGGGAAGAGGACCTGCGAGACGGAGGCGTCCCCTTCTTTGTCAACCGGGGTGGGCTACCTGTGGAT
GAGGCCACCTGGGAAAGGATGTGGAAACACGTGGCCAAGATCCACCCCGATGGAGAGAAGGTGGCGCAACGGATCCGTGGGGCCACAGACCTGCCCAAGATCCCC
ATACCGAGTGTGCCTACGTTCCAGCCGTCTACACCTGTCCCTGAGCGCCTGGAAGCTGTGCAGCGCTACATCAGAGAGCTGCAGTACAATCACACAGGGACACAG
TTCTTTGAAATTAAGAAGAGCAGACCTCTGACAGGGCTGATGGACCTGGCCAAGGAAATGACCAAAGAGGCCCTGCCAATCAAATGCCTGGAAGCCGTGATCCTG
GGAATTTACCTCACCAACAGCATGCCCACCCTGGAGCGCTTCCCCATCAGCTTCAAGACCTACTTCTCAGGGAACTACTTCCGCCACATCGTGCTGGGGGTGAAC
TTCGCGGGCCGCTACGGTGCGCTGGGCATGAGTCGGCGCGAGGACCTGATGTACAAGCCGCCCGCCTTCCGCACGCTCAGCGAGCTCGTGCTGGACTTCGAGGCC
GCCTACGGCCGCTGCTGGCACGTGCTCAAGAAGGTGAAGCTGGGCCAGAGCGTGTCACACGACCCGCACAGCGTGGAGCAGATCGAGTGGAAGCACTCGGTGCTG
GACGTGGAGCGCCTGGGCCGCGATGACTTCCGCAAGGAGCTGGAGCGCCACGCCCGCGACATGCGGCTCAAGATTGGCAAAGGGACGGGCCCTCCCTCTCCCACC
AAGGACCGGAAGAAGGATGTTTCTTCCCCGCAGCGGGCCCAGTCCAGCCCCCACCGCAGGAACAGCCGCAGTGAAAGACGGCCCTCGGGTGACAAGAAGACTTCC
GAGCCCAAAGCCATGCCAGACCTTAACGGGTACCAGATCCGGGTCTGA
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>VASH1|22846|protein
MPGGKKVAGGGSSGATPTSAAATAPSGVRRLETSEGTSAQRDEEPEEEGEEDLRDGGVPFFVNRGGLPVDEATWERMWKHVAKIHPDGEKVAQRIRGATDLPKIP
IPSVPTFQPSTPVPERLEAVQRYIRELQYNHTGTQFFEIKKSRPLTGLMDLAKEMTKEALPIKCLEAVILGIYLTNSMPTLERFPISFKTYFSGNYFRHIVLGVN
FAGRYGALGMSRREDLMYKPPAFRTLSELVLDFEAAYGRCWHVLKKVKLGQSVSHDPHSVEQIEWKHSVLDVERLGRDDFRKELERHARDMRLKIGKGTGPPSPT
KDRKKDVSSPQRAQSSPHRRNSRSERRPSGDKKTSEPKAMPDLNGYQIRV

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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 2 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 10 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Wang, 2009_1 Discovery Illumina HumanHap550 BeadChip 780 1299
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery Illumina HumanHap550 BeadChip 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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