AutismKB 2.0

Evidence Details for UBC


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Basic Information Top
Gene Symbol:UBC ( HMG20 )
Gene Full Name: ubiquitin C
Band: 12q24.3
Quick LinksEntrez ID:7316; OMIM: 191340; Uniprot ID:UBC_HUMAN; ENSEMBL ID: ENSG00000150991; HGNC ID: 12468
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBC|7316|nucleotide
ATGCAGATCTTCGTGAAGACTCTGACTGGTAAGACCATCACCCTCGAGGTTGAGCCCAGTGACACCATCGAGAATGTCAAGGCAAAGATCCAAGATAAGGAAGGC
ATCCCTCCTGACCAGCAGAGGCTGATCTTTGCTGGAAAACAGCTGGAAGATGGGCGCACCCTGTCTGACTACAACATCCAGAAAGAGTCCACCCTGCACCTGGTG
CTCCGTCTCAGAGGTGGGATGCAAATCTTCGTGAAGACACTCACTGGCAAGACCATCACCCTTGAGGTCGAGCCCAGTGACACCATCGAGAACGTCAAAGCAAAG
ATCCAGGACAAGGAAGGCATTCCTCCTGACCAGCAGAGGTTGATCTTTGCCGGAAAGCAGCTGGAAGATGGGCGCACCCTGTCTGACTACAACATCCAGAAAGAG
TCTACCCTGCACCTGGTGCTCCGTCTCAGAGGTGGGATGCAGATCTTCGTGAAGACCCTGACTGGTAAGACCATCACCCTCGAGGTGGAGCCCAGTGACACCATC
GAGAATGTCAAGGCAAAGATCCAAGATAAGGAAGGCATTCCTTCTGATCAGCAGAGGTTGATCTTTGCCGGAAAACAGCTGGAAGATGGTCGTACCCTGTCTGAC
TACAACATCCAGAAAGAGTCCACCTTGCACCTGGTACTCCGTCTCAGAGGTGGGATGCAAATCTTCGTGAAGACACTCACTGGCAAGACCATCACCCTTGAGGTC
GAGCCCAGTGACACTATCGAGAACGTCAAAGCAAAGATCCAAGACAAGGAAGGCATTCCTCCTGACCAGCAGAGGTTGATCTTTGCCGGAAAGCAGCTGGAAGAT
GGGCGCACCCTGTCTGACTACAACATCCAGAAAGAGTCTACCCTGCACCTGGTGCTCCGTCTCAGAGGTGGGATGCAGATCTTCGTGAAGACCCTGACTGGTAAG
ACCATCACTCTCGAAGTGGAGCCGAGTGACACCATTGAGAATGTCAAGGCAAAGATCCAAGACAAGGAAGGCATCCCTCCTGACCAGCAGAGGTTGATCTTTGCC
GGAAAACAGCTGGAAGATGGTCGTACCCTGTCTGACTACAACATCCAGAAAGAGTCCACCTTGCACCTGGTGCTCCGTCTCAGAGGTGGGATGCAGATCTTCGTG
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>UBC|7316|protein
MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEVEPSDTIENVKAK
IQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPSDQQRLIFAGKQLEDGRTLSD
YNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGK
TITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ
QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHL
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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top