AutismKB 2.0

Evidence Details for GALNTL4


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Basic Information Top
Gene Symbol:GALNTL4 ( GALNT15,GALNT18,GalNAc-T15,MGC71806 )
Gene Full Name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4
Band: 11p15.3
Quick LinksEntrez ID:374378; OMIM: NA; Uniprot ID:GLTL4_HUMAN; ENSEMBL ID: ENSG00000110328; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GALNTL4|374378|nucleotide
ATGGTGTGCACCAGGAAGACCAAAACTTTGGTGTCCACTTGCGTGATCCTGAGCGGCATGACTAACATCATCTGCCTGCTCTACGTGGGCTGGGTCACCAACTAC
ATCGCCAGCGTGTATGTGCGGGGGCAGGAGCCGGCGCCCGACAAGAAGCTGGAGGAAGACAAAGGGGACACTCTGAAGATTATTGAGCGGCTGGACCACCTGGAG
AATGTCATCAAGCAGCACATTCAAGAGGCTCCTGCCAAGCCTGAGGAGGCAGAGGCCGAGCCCTTCACAGACTCCTCTCTGTTTGCACACTGGGGCCAGGAGCTC
AGCCCCGAAGGCCGGCGCGTGGCCCTGAAGCAATTCCAGTACTACGGCTACAACGCCTACCTCAGCGACCGCCTGCCCCTGGACCGGCCCCTGCCTGACCTCAGA
CCCAGTGGGTGCCGTAACCTCTCATTTCCTGACAGCCTGCCAGAGGTGAGCATCGTGTTCATCTTCGTCAATGAAGCGCTTTCAGTGCTGCTGCGCTCCATCCAC
TCGGCCATGGAACGCACGCCCCCACATCTGCTCAAGGAGATCATTCTGGTGGATGACAACAGCAGTAACGAGGAACTGAAGGAGAAGCTGACCGAATATGTGGAC
AAGGTGAACAGCCAGAAGCCAGGCTTCATCAAAGTCGTGCGTCACAGCAAGCAGGAAGGCCTCATCCGCTCCAGGGTCAGTGGCTGGAGGGCGGCCACTGCCCCT
GTGGTGGCACTCTTTGATGCCCACGTGGAGTTCAATGTGGGCTGGGCTGAACCTGTACTCACCCGCATCAAGGAGAACCGGAAGCGGATCATCTCGCCATCCTTT
GATAACATCAAATATGACAACTTTGAGATAGAAGAGTACCCGCTGGCTGCCCAGGGCTTTGACTGGGAGCTGTGGTGCCGCTACCTAAATCCCCCCAAGGCCTGG
TGGAAGCTGGAGAACTCCACAGCGCCAATCAGGAGCCCTGCCCTCATTGGCTGCTTCATTGTGGACCGGCAGTACTTCCAGGAGATCGGCCTGCTGGACGAAGGC
ATGGAAGTCTACGGGGGCGAGAATGTGGAGCTTGGGATCAGGGTGTGGCAGTGTGGCGGGAGTGTGGAGGTCCTGCCCTGCTCACGGATTGCCCACATTGAGCGA
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>GALNTL4|374378|protein
MVCTRKTKTLVSTCVILSGMTNIICLLYVGWVTNYIASVYVRGQEPAPDKKLEEDKGDTLKIIERLDHLENVIKQHIQEAPAKPEEAEAEPFTDSSLFAHWGQEL
SPEGRRVALKQFQYYGYNAYLSDRLPLDRPLPDLRPSGCRNLSFPDSLPEVSIVFIFVNEALSVLLRSIHSAMERTPPHLLKEIILVDDNSSNEELKEKLTEYVD
KVNSQKPGFIKVVRHSKQEGLIRSRVSGWRAATAPVVALFDAHVEFNVGWAEPVLTRIKENRKRIISPSFDNIKYDNFEIEEYPLAAQGFDWELWCRYLNPPKAW
WKLENSTAPIRSPALIGCFIVDRQYFQEIGLLDEGMEVYGGENVELGIRVWQCGGSVEVLPCSRIAHIERAHKPYTEDLTAHVRRNALRVAEVWMDEFKSHVYMA
WNIPQEDSGIDIGDITARKALRKQLQCKTFRWYLVSVYPEMRMYSDIIAYGVLQNSLKTDLCLDQGPDTENVPIMYICHGMTPQNVYYTSSQQIHVGILSPTVDD
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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 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 6 (5)
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
Ma, 2009_1 Discovery Illumina's Human 1M v1 Beadchip 438 -
(-)
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
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
Reference Case Number Family Number de novo Number Title
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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