AutismKB 2.0

Evidence Details for UTRN


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Basic Information Top
Gene Symbol:UTRN ( DMDL,DRP,DRP1,FLJ23678 )
Gene Full Name: utrophin
Band: 6q24.2
Quick LinksEntrez ID:7402; OMIM: 128240; Uniprot ID:UTRO_HUMAN; ENSEMBL ID: ENSG00000152818; HGNC ID: 12635
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UTRN|7402|nucleotide
ATGGCCAAGTATGGAGAACATGAAGCCAGTCCTGACAATGGGCAGAACGAATTCAGTGATATCATTAAGTCCAGATCTGATGAACACAATGACGTACAGAAGAAA
ACCTTTACCAAATGGATAAATGCTCGATTTTCAAAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTA
GAAGGCCTCACAGGAACATCACTGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTG
GAATTAGTGAATATAGGGGGAACTGACATTGTGGATGGAAATCACAAACTGACTTTGGGGTTACTTTGGAGCATCATTTTGCACTGGCAGGTGAAAGATGTCATG
AAGGATGTCATGTCGGACCTGCAGCAGACGAACAGTGAGAAGATCCTGCTCAGCTGGGTGCGTCAGACCACCAGGCCCTACAGCCAAGTCAACGTCCTCAACTTC
ACCACCAGCTGGACAGATGGACTCGCCTTTAATGCTGTCCTCCACCGACATAAACCTGATCTCTTCAGCTGGGATAAAGTTGTCAAAATGTCACCAATTGAGAGA
CTTGAACATGCCTTCAGCAAGGCTCAAACTTATTTGGGAATTGAAAAGCTGTTAGATCCTGAAGATGTTGCCGTTCAGCTTCCTGACAAGAAATCCATAATTATG
TATTTAACATCTTTGTTTGAGGTGCTACCTCAGCAAGTCACCATAGACGCCATCCGTGAGGTAGAGACACTCCCAAGGAAATATAAAAAAGAATGTGAAGAAGAG
GCAATTAATATACAGAGTACAGCGCCTGAGGAGGAGCATGAGAGTCCCCGAGCTGAAACTCCCAGCACTGTCACTGAGGTTGACATGGATCTGGACAGCTATCAG
ATTGCGTTGGAGGAAGTGCTGACCTGGTTGCTTTCTGCTGAGGACACTTTCCAGGAGCAGGATGATATTTCTGATGATGTTGAAGAAGTCAAAGACCAGTTTGCA
ACCCATGAAGCTTTTATGATGGAACTGACTGCACACCAGAGCAGTGTGGGCAGCGTCCTGCAGGCAGGCAACCAACTGATAACACAAGGAACTCTGTCAGACGAA
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>UTRN|7402|protein
MAKYGEHEASPDNGQNEFSDIIKSRSDEHNDVQKKTFTKWINARFSKSGKPPINDMFTDLKDGRKLLDLLEGLTGTSLPKERGSTRVHALNNVNRVLQVLHQNNV
ELVNIGGTDIVDGNHKLTLGLLWSIILHWQVKDVMKDVMSDLQQTNSEKILLSWVRQTTRPYSQVNVLNFTTSWTDGLAFNAVLHRHKPDLFSWDKVVKMSPIER
LEHAFSKAQTYLGIEKLLDPEDVAVQLPDKKSIIMYLTSLFEVLPQQVTIDAIREVETLPRKYKKECEEEAINIQSTAPEEEHESPRAETPSTVTEVDMDLDSYQ
IALEEVLTWLLSAEDTFQEQDDISDDVEEVKDQFATHEAFMMELTAHQSSVGSVLQAGNQLITQGTLSDEEEFEIQEQMTLLNARWEALRVESMDRQSRLHDVLM
ELQKKQLQQLSAWLTLTEERIQKMETCPLDDDVKSLQKLLEEHKSLQSDLEAEQVKVNSLTHMVVIVDENSGESATAILEDQLQKLGERWTAVCRWTEERWNRLQ
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (1) 0 (1) 0 (0) 2 (6)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top