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