AutismKB 2.0

Evidence Details for MUC20


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Basic Information Top
Gene Symbol:MUC20 ( FLJ14408,FLJ53153,KIAA1359,MUC-20 )
Gene Full Name: mucin 20, cell surface associated
Band: 3q29
Quick LinksEntrez ID:200958; OMIM: 610360; Uniprot ID:MUC20_HUMAN; ENSEMBL ID: ENSG00000176945; HGNC ID: 23282
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MUC20|200958|nucleotide
ATGACAACGGACGACACAGAAGTGCCCGCTATGACTCTAGCACCGGGCCACGCCGCTCTGGAAACTCAAACGCTGAGCGCTGAGACCTCTTCTAGGGCCTCAACC
CCAGCCGGCCCCATTCCAGAAGCAGAGACCAGGGGAGCCAAGAGAATTTCCCCTGCAAGAGAGACCAGGAGTTTCACAAAAACATCTCCCAACTTCATGGTGCTG
ATCGCCACCTCCGTGGAGACATCAGCCGCCAGTGGCAGCCCCGAGGGAGCTGGAATGACCACAGTTCAGACCATCACAGGCAGTGATCCCAGGGAAGCCATCTTT
GACACCCTTTGCACCGATGACAGCTCTGAAGAGGCAAAGACACTCACAATGGACATATTGACATTGGCTCACACCTCCACAGAAGCTAAGGGCCTGTCCTCAGAG
AGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGG
GCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCATGGTCCCCGGGATCTGACGTCACTCTCCTCGCTGAAGCCCTGGTGACTGTC
ACAAACATCGAGGTTATTAATTGCAGCATCACAGAAATAGAAACAACGACTTCCAGCATCCCTGGGGCCTCAGACACAGATCTCATCCCCACGGAAGGGGTGAAG
GCCTCGTCCACCTCCGATCCACCAGCTCTGCCTGACTCCACTGAAGCAAAACCACACATCACTGAGGTCACAGCCTCTGCCGAGACCCTGTCCACAGCCGGCACC
ACAGAGTCAGCTGCACCTGATGCCACGGTTGGGACCCCACTCCCCACTAACAGCGCCACAGAAAGAGAAGTGACAGCACCCGGGGCCACGACCCTCAGTGGAGCT
CTGGTCACAGTTAGCAGGAATCCCCTTGAAGAAACCTCAGCCCTCTCTGTTGAGACACCAAGTTACGTCAAAGTCTCAGGAGCAGCTCCGGTCTCCATAGAGGCT
GGGTCAGCAGTGGGCAAAACAACTTCCTTTGCTGGGAGCTCTGCTTCCTCCTACAGCCCCTCGGAAGCCGCCCTCAAGAACTTCACCCCTTCAGAGACACCGACC
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>MUC20|200958|protein
MTTDDTEVPAMTLAPGHAALETQTLSAETSSRASTPAGPIPEAETRGAKRISPARETRSFTKTSPNFMVLIATSVETSAASGSPEGAGMTTVQTITGSDPREAIF
DTLCTDDSSEEAKTLTMDILTLAHTSTEAKGLSSESSASSDSPHPVITPSRASESSASSDGPHPVITPSRASESSASSDGPHPVITPSWSPGSDVTLLAEALVTV
TNIEVINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGA
LVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNSTLA
KITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG
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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) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 3 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top