AutismKB 2.0

Evidence Details for GALNTL6


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Basic Information Top
Gene Symbol:GALNTL6 ( GALNT17,MGC44629 )
Gene Full Name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6
Band: 4q34.1
Quick LinksEntrez ID:442117; OMIM: NA; Uniprot ID:GLTL6_HUMAN; ENSEMBL ID: ENSG00000174473; HGNC ID: 33844
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GALNTL6|442117|nucleotide
ATGAAGAGGAAACAGAAGAGATTTCTGCAGATGACTTTGTTGTTCACGGTGGCTTTAATTTTCCTGCCTAACGTTGGTCTCTGGTCTCTGTACAAGGATAAGCAC
CTGGTGAAGTCAGCGGAGCCCGGGGAGCAGCAGACATTTCCACTGGGCCTGGGAGATGGGCAATTCTATTCATGGACAGATGGTTTGAGAAGAAAGGACTGGCAT
GACTATGAAAGCATTCAGAAAGAGGCTATGCGCTCAGGGAAAGGTGAACATGGGAAACCTTACCCCCTTACTGAAGAGGACCATGATGACTCAGCTTACAGGGAA
AATGGTTTTAATATTTTCGTCAGCAACAATATTGCTCTAGAGAGGTCTCTGCCAGATATTCGTCATGCTAACTGTAAGCATAAGATGTATCTGGAAAGGCTGCCA
AACACCAGCATCATTATCCCATTTCATAATGAAGGTTGGACTTCACTCCTGCGGACCATACACAGTATAATTAACCGAACCCCAGGGAGTCTGATAGCAGAAATC
ATTCTAGTAGATGACTTCAGTGAGAGAGAACACCTGAAGGATAAATTGGAAGAATACATGGCCCGATTTTCCAAAGTGAGGATTGTTCGCACCAAGAAAAGAGAA
GGACTCATCCGGACCCGTCTCCTGGGGGCATCTATGGCCAGAGGAGAAGTCCTGACATTCCTGGACTCCCACTGCGAGGTCAATGTGAACTGGCTGCCCCCACTC
CTCAACCAAATTGCACTAAACCACAAAACCATCGTGTGTCCCATGATCGATGTCATTGACCACAATCACTTCGGGTATGAGGCACAAGCTGGGGATGCCATGCGA
GGAGCCTTCGACTGGGAAATGTACTACAAAAGAATCCCCATCCCTCCAGAGCTCCAGAGGGCAGATCCCAGCGACCCTTTTGAGTCTCCTGTTATGGCTGGAGGT
CTCTTTGCTGTGGATCGGAAATGGTTTTGGGAATTGGGTGGCTATGATCCAGGTTTAGAAATCTGGGGAGGAGAACAGTATGAAATCTCTTTTAAGGTTTGGATG
TGTGGAGGAGAAATGTTTGATGTTCCATGTTCTAGAGTTGGTCATATCTACAGGAAGTACGTTCCATACAAAGTTCCATCTGGGACAAGCCTGGCAAGAAACCTG
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>GALNTL6|442117|protein
MKRKQKRFLQMTLLFTVALIFLPNVGLWSLYKDKHLVKSAEPGEQQTFPLGLGDGQFYSWTDGLRRKDWHDYESIQKEAMRSGKGEHGKPYPLTEEDHDDSAYRE
NGFNIFVSNNIALERSLPDIRHANCKHKMYLERLPNTSIIIPFHNEGWTSLLRTIHSIINRTPGSLIAEIILVDDFSEREHLKDKLEEYMARFSKVRIVRTKKRE
GLIRTRLLGASMARGEVLTFLDSHCEVNVNWLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGG
LFAVDRKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEYIYQRRPEYRHLSTGDISAQKE
LRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAAWGEIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHN
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Ramanathan, 2004 - STS mappingautism - - - - 1 - 1
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top