AutismKB 2.0

Evidence Details for DSG1


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Basic Information Top
Gene Symbol:DSG1 ( CDHF4,DG1,DSG,PPKS1,SPPK1 )
Gene Full Name: desmoglein 1
Band: 18q12.1
Quick LinksEntrez ID:1828; OMIM: 125670; Uniprot ID:DSG1_HUMAN; ENSEMBL ID: ENSG00000134760; HGNC ID: 3048
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DSG1|1828|nucleotide
ATGGACTGGAGTTTCTTCAGAGTAGTTGCAATGCTGTTCATTTTTCTGGTGGTGGTAGAAGTTAACAGTGAATTCCGAATCCAGGTAAGAGATTATAACACTAAA
AATGGCACCATCAAATGGCATTCAATCCGAAGGCAGAAACGTGAATGGATCAAGTTCGCAGCAGCCTGTCGTGAAGGTGAAGACAACTCAAAGAGGAACCCAATC
GCCAAAATTCACTCAGATTGTGCTGCAAACCAGCAAGTTACATACCGCATCTCTGGAGTAGGAATTGATCAGCCACCATATGGGATCTTTGTCATTAATCAGAAA
ACTGGTGAAATTAATATAACATCCATAGTTGATCGAGAGGTCACTCCTTTCTTCATTATCTACTGCCGAGCTCTGAACTCAATGGGCCAAGATTTAGAGAGGCCT
CTAGAGCTCAGAGTCAGGGTTTTGGATATAAATGACAACCCTCCAGTGTTTTCAATGGCTACATTTGCAGGACAAATAGAAGAAAATTCTAATGCAAATACACTG
GTGATGATACTCAATGCTACTGACGCAGATGAACCGAACAATTTGAACTCAAAAATAGCCTTCAAGATTATAAGACAAGAACCTTCAGATTCACCAATGTTTATT
ATCAACAGAAATACTGGAGAAATTCGAACGATGAATAATTTTCTAGACAGAGAGCAATACGGCCAGTATGCTCTTGCTGTAAGAGGCTCTGACCGAGATGGTGGG
GCAGATGGCATGTCAGCGGAATGTGAGTGCAACATTAAAATCCTCGATGTCAATGATAATATCCCTTACATGGAACAGTCTTCATATACCATAGAAATTCAAGAA
AATACTCTAAATTCAAATTTGCTCGAGATTAGAGTAATTGATTTGGATGAAGAGTTCTCAGCTAACTGGATGGCAGTAATTTTCTTTATCTCTGGAAATGAAGGA
AATTGGTTTGAGATAGAAATGAATGAAAGAACAAATGTGGGAATTTTAAAGGTTGTTAAGCCCTTAGATTATGAAGCTATGCAGAGTCTGCAACTCAGTATTGGT
GTCAGAAATAAAGCTGAATTTCATCATTCAATTATGTCTCAATATAAACTGAAAGCATCTGCAATTTCTGTGACTGTGTTAAATGTAATTGAAGGCCCAGTGTTT
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>DSG1|1828|protein
MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACREGEDNSKRNPIAKIHSDCAANQQVTYRISGVGIDQPPYGIFVINQK
TGEINITSIVDREVTPFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILNATDADEPNNLNSKIAFKIIRQEPSDSPMFI
INRNTGEIRTMNNFLDREQYGQYALAVRGSDRDGGADGMSAECECNIKILDVNDNIPYMEQSSYTIEIQENTLNSNLLEIRVIDLDEEFSANWMAVIFFISGNEG
NWFEIEMNERTNVGILKVVKPLDYEAMQSLQLSIGVRNKAEFHHSIMSQYKLKASAISVTVLNVIEGPVFRPGSKTYVVTGNMGSNDKVGDFVATDLDTGRPSTT
VRYVMGNNPADLLAVDSRTGKLTLKNKVTKEQYNMLGGKYQGTILSIDDNLQRTCTGTININIQSFGNDDRTNTEPNTKITTNTGRQESTSSTNYDTSTTSTDSS
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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Wang P, 2013 - CMAautistic disorder - - - - 1 - 1
Linkage Studies Top