AutismKB 2.0

Evidence Details for ST6GALNAC3


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Basic Information Top
Gene Symbol:ST6GALNAC3 ( FLJ13669,FLJ27239,PRO7177,SIAT7C,ST6GALNACIII,STY )
Gene Full Name: ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
Band: 1p31.1
Quick LinksEntrez ID:256435; OMIM: 610133; Uniprot ID:SIA7C_HUMAN; ENSEMBL ID: ENSG00000184005; HGNC ID: 19343
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ST6GALNAC3|256435|nucleotide
ATGGCCTGCATCCTGAAGAGAAAGTCTGTGATTGCTGTGAGCTTCATAGCAGCGTTCCTTTTCCTGCTGGTTGTGCGTCTTGTAAATGAAGTGAATTTCCCATTG
CTACTAAACTGCTTTGGACAACCTGGTACAAAGTGGATACCATTCTCCTACACATACAGGCGGCCCCTTCGAACTCACTATGGATACATAAATGTGAAGACACAA
GAGCCTTTGCAACTGGACTGTGACCTTTGTGCCATAGTGTCAAACTCAGGTCAGATGGTTGGCCAGAAGGTGGGAAATGAGATAGATCGATCCTCCTGCATTTGG
AGAATGAACAATGCCCCCACCAAAGGTTATGAAGAAGATGTCGGCCGCATGACCATGATTCGAGTTGTGTCCCATACCAGCGTTCCTCTTTTGCTAAAAAACCCT
GATTATTTTTTCAAGGAAGCGAATACTACTATTTATGTTATTTGGGGACCTTTCCGCAATATGAGGAAAGATGGCAATGGCATCGTTTACAACATGTTGAAAAAG
ACAGTTGGTATCTATCCGAATGCCCAAATATACGTGACCACAGAGAAGCGCATGAGTTACTGTGATGGAGTTTTTAAGAAGGAAACTGGGAAGGACAGTACAGAG
TGA




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>ST6GALNAC3|256435|protein
MACILKRKSVIAVSFIAAFLFLLVVRLVNEVNFPLLLNCFGQPGTKWIPFSYTYRRPLRTHYGYINVKTQEPLQLDCDLCAIVSNSGQMVGQKVGNEIDRSSCIW
RMNNAPTKGYEEDVGRMTMIRVVSHTSVPLLLKNPDYFFKEANTTIYVIWGPFRNMRKDGNGIVYNMLKKTVGIYPNAQIYVTTEKRMSYCDGVFKKETGKDSTE



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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top