AutismKB 2.0

Evidence Details for DSG2


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Basic Information Top
Gene Symbol:DSG2 ( ARVC10,ARVD10,CDHF5,CMD1BB,HDGC,MGC117034,MGC117036,MGC117037 )
Gene Full Name: desmoglein 2
Band: 18q12.1
Quick LinksEntrez ID:1829; OMIM: 125671; Uniprot ID:DSG2_HUMAN; ENSEMBL ID: ENSG00000046604; HGNC ID: 3049
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DSG2|1829|nucleotide
ATGGCGCGGAGCCCGGGACGCGCGTACGCCCTGCTGCTTCTCCTGATCTGCTTTAACGTTGGAAGTGGACTTCACTTACAGGTCTTAAGCACAAGAAATGAAAAT
AAGCTGCTTCCTAAACATCCTCATTTAGTGCGGCAAAAGCGCGCCTGGATCACCGCCCCCGTGGCTCTTCGGGAGGGAGAGGATCTGTCCAAGAAGAATCCAATT
GCCAAGATACATTCTGATCTTGCAGAAGAAAGAGGACTCAAAATTACTTACAAATACACTGGAAAAGGGATTACAGAGCCACCTTTTGGTATATTTGTCTTTAAC
AAAGATACTGGAGAACTGAATGTTACCAGCATTCTTGATCGAGAAGAAACACCATTTTTTCTGCTAACAGGTTACGCTTTGGATGCAAGAGGAAACAATGTAGAG
AAACCCTTAGAGCTACGCATTAAGGTTCTTGATATCAATGACAACGAACCAGTGTTCACACAGGATGTCTTTGTTGGGTCTGTTGAAGAGTTGAGTGCAGCACAT
ACTCTTGTGATGAAAATCAATGCAACAGATGCAGATGAGCCCAATACCCTGAATTCGAAAATTTCCTATAGAATCGTATCTCTGGAGCCTGCTTATCCTCCAGTG
TTCTACCTAAATAAAGATACAGGAGAGATTTATACAACCAGTGTTACCTTGGACAGAGAGGAACACAGCAGCTACACTTTGACAGTAGAAGCAAGAGATGGCAAT
GGAGAAGTTACAGACAAACCTGTAAAACAAGCTCAAGTTCAGATTCGTATTTTGGATGTCAATGACAATATACCTGTAGTAGAAAATAAAGTGCTTGAAGGGATG
GTTGAAGAAAATCAAGTCAACGTAGAAGTTACGCGCATAAAAGTGTTCGATGCAGATGAAATAGGTTCTGATAATTGGCTGGCAAATTTTACATTTGCATCAGGA
AATGAAGGAGGTTATTTCCACATAGAAACAGATGCTCAAACTAACGAAGGAATTGTGACCCTTATTAAGGAAGTAGATTATGAAGAAATGAAGAATCTTGACTTC
AGTGTTATTGTCGCTAATAAAGCAGCTTTTCACAAGTCGATTAGGAGTAAATACAAGCCTACACCCATTCCCATCAAGGTCAAAGTGAAAAATGTGAAAGAAGGC
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>DSG2|1829|protein
MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHLVRQKRAWITAPVALREGEDLSKKNPIAKIHSDLAEERGLKITYKYTGKGITEPPFGIFVFN
KDTGELNVTSILDREETPFFLLTGYALDARGNNVEKPLELRIKVLDINDNEPVFTQDVFVGSVEELSAAHTLVMKINATDADEPNTLNSKISYRIVSLEPAYPPV
FYLNKDTGEIYTTSVTLDREEHSSYTLTVEARDGNGEVTDKPVKQAQVQIRILDVNDNIPVVENKVLEGMVEENQVNVEVTRIKVFDADEIGSDNWLANFTFASG
NEGGYFHIETDAQTNEGIVTLIKEVDYEEMKNLDFSVIVANKAAFHKSIRSKYKPTPIPIKVKVKNVKEGIHFKSSVISIYVSESMDRSSKGQIIGNFQAFDEDT
GLPAHARYVKLEDRDNWISVDSVTSEIKLAKLPDFESRYVQNGTYTVKIVAISEDYPRKTITGTVLINVEDINDNCPTLIEPVQTICHDAEYVNVTAEDLDGHPN
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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) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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