AutismKB 2.0

Evidence Details for DSEL


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Basic Information Top
Gene Symbol:DSEL ( C18orf4 )
Gene Full Name: dermatan sulfate epimerase-like
Band: 18q22.1
Quick LinksEntrez ID:92126; OMIM: 611125; Uniprot ID:DSEL_HUMAN; ENSEMBL ID: ENSG00000171451; HGNC ID: 18144
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DSEL|92126|nucleotide
ATGCCTAAGGGAGGAGCTCCCCCATGGATCATGGCGTTAATGTTTACAGGACATTTACTATTCTTAGCATTATTGATGTTTGCTTTCTCTACTTTTGAGGAATCT
GTGAGCAATTATTCCGAATGGGCAGTTTTCACAGATGATATAGATCAGTTTAAAACACAGAAAGTGCAAGATTTCAGACCCAACCAAAAGCTGAAGAAAAGTATG
CTTCATCCAAGTTTATATTTTGATGCTGGAGAAATCCAAGCAATGAGACAAAAGTCTCGTGCAAGCCATTTGCATCTTTTTAGAGCTATCAGAAGTGCAGTGACA
GTTATGCTGTCCAACCCAACATACTACCTACCTCCACCAAAGCATGCTGATTTTGCTGCCAAGTGGAATGAAATTTATGGTAACAATCTGCCTCCTTTAGCATTG
TACTGTTTGTTATGCCCAGAAGACAAAGTTGCCTTTGAATTTGTCTTGGAATATATGGACAGGATGGTTGGCTACAAAGACTGGCTAGTAGAGAATGCACCAGGA
GATGAGGTTCCAATTGGCCATTCCTTAACAGGTTTTGCCACTGCCTTTGACTTTTTATATAACTTATTAGATAATCATCGAAGACAAAAATACCTGGAAAAAATA
TGGGTTATTACTGAGGAAATGTACGAGTATTCCAAGGTCCGCTCATGGGGCAAACAGCTTCTCCATAACCACCAAGCCACTAATATGATAGCATTACTCACAGGG
GCCTTGGTGACTGGAGTAGATAAAGGATCTAAAGCAAATATATGGAAACAGGCTGTAGTGGATGTCATGGAAAAGACAATGTTTCTATTGAATCATATTGTTGAT
GGTTCTTTGGATGAAGGTGTGGCCTATGGAAGCTACACAGCTAAATCCGTCACACAGTATGTTTTTCTGGCCCAGCGCCATTTTAATATCAACAACTTGGATAAT
AACTGGTTAAAGATGCACTTTTGGTTCTATTATGCCACCCTTTTACCTGGCTTCCAAAGAACTGTGGGTATAGCAGATTCCAATTATAATTGGTTTTATGGTCCA
GAAAGCCAGCTAGTTTTCTTGGATAAGTTCATCTTAAAGAATGGAGCTGGAAATTGGTTAGCTCAGCAAATTAGAAAGCACCGACCTAAAGATGGACCGATGGTT
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>DSEL|92126|protein
MPKGGAPPWIMALMFTGHLLFLALLMFAFSTFEESVSNYSEWAVFTDDIDQFKTQKVQDFRPNQKLKKSMLHPSLYFDAGEIQAMRQKSRASHLHLFRAIRSAVT
VMLSNPTYYLPPPKHADFAAKWNEIYGNNLPPLALYCLLCPEDKVAFEFVLEYMDRMVGYKDWLVENAPGDEVPIGHSLTGFATAFDFLYNLLDNHRRQKYLEKI
WVITEEMYEYSKVRSWGKQLLHNHQATNMIALLTGALVTGVDKGSKANIWKQAVVDVMEKTMFLLNHIVDGSLDEGVAYGSYTAKSVTQYVFLAQRHFNINNLDN
NWLKMHFWFYYATLLPGFQRTVGIADSNYNWFYGPESQLVFLDKFILKNGAGNWLAQQIRKHRPKDGPMVPSTAQRWSTLHTEYIWYDPQLTPQPPADYGTAKIH
TFPNWGVVTYGAGLPNTQTNTFVSFKSGKLGGRAVYDIVHFQPYSWIDGWRSFNPGHEHPDQNSFTFAPNGQVFVSEALYGPKLSHLNNVLVFAPSPSSQCNKPW
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (3)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top