AutismKB 2.0

Evidence Details for UIMC1


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Basic Information Top
Gene Symbol:UIMC1 ( RAP80,X2HRIP110 )
Gene Full Name: ubiquitin interaction motif containing 1
Band: 5q35.2
Quick LinksEntrez ID:51720; OMIM: 609433; Uniprot ID:UIMC1_HUMAN; ENSEMBL ID: ENSG00000087206; HGNC ID: 30298
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UIMC1|51720|nucleotide
ATGCCACGGAGAAAGAAAAAAGTTAAAGAAGTCTCCGAATCTCGGAACCTGGAGAAGAAGGATGTGGAAACTACCAGTTCTGTCAGTGTGAAGAGGAAGCGTAGA
CTTGAGGATGCATTCATTGTGATATCCGATAGTGATGGAGAGGAACCAAAGGAGGAAAATGGGTTGCAGAAAACGAAGACAAAACAGTCGAATAGAGCAAAGTGT
TTGGCCAAAAGAAAAATCGCACAGATGACAGAAGAAGAACAGTTTGCTCTGGCTCTCAAAATGAGTGAGCAGGAAGCTAGGGAGGTGAACAGCCAGGAGGAGGAA
GAAGAGGAGCTCTTGAGGAAAGCCATTGCTGAAAGCCTGAATAGTTGCCGGCCTTCTGATGCTTCCGCTACCAGATCTCGACCTCTGGCCACTGGACCGTCTTCC
CAGTCCCATCAAGAGAAAACCACAGACTCTGGGCTCACTGAAGGCATATGGCAGCTGGTACCTCCATCACTGTTTAAAGGCTCACATATCAGTCAGGGAAACGAG
GCTGAGGAAAGAGAGGAGCCTTGGGACCACACTGAAAAAACTGAAGAGGAGCCGGTCTCTGGCAGCTCAGGAAGCTGGGACCAGTCAAGCCAGCCAGTGTTTGAG
AATGTGAACGTTAAATCTTTTGACAGATGTACTGGCCACTCGGCTGAGCACACACAGTGTGGGAAGCCACAGGAAAGTACTGGGAGGGGTTCTGCTTTTCTCAAA
GCTGTCCAGGGTAGCGGGGACACATCTAGGCACTGTCTACCTACCCTAGCAGATGCCAAAGGTCTCCAGGACACTGGGGGCACTGTGAACTATTTCTGGGGTATT
CCATTCTGCCCTGATGGAGTAGACCCTAACCAGTATACCAAGGTCATTCTCTGCCAGTTGGAGGTTTATCAAAAGAGCCTGAAAATGGCTCAGAGGCAGCTCCTT
AATAAAAAAGGTTTTGGGGAACCAGTGTTACCTAGACCTCCTTCTCTGATCCAGAATGAATGTGGCCAAGGAGAGCAGGCTAGTGAGAAAAATGAATGCATCTCA
GAAGATATGGGAGATGAAGACAAAGAGGAGAGGCAGGAGTCTAGGGCATCTGACTGGCACTCAAAAACCAAGGATTTCCAGGAAAGCTCAATTAAAAGCTTGAAA
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>UIMC1|51720|protein
MPRRKKKVKEVSESRNLEKKDVETTSSVSVKRKRRLEDAFIVISDSDGEEPKEENGLQKTKTKQSNRAKCLAKRKIAQMTEEEQFALALKMSEQEAREVNSQEEE
EEELLRKAIAESLNSCRPSDASATRSRPLATGPSSQSHQEKTTDSGLTEGIWQLVPPSLFKGSHISQGNEAEEREEPWDHTEKTEEEPVSGSSGSWDQSSQPVFE
NVNVKSFDRCTGHSAEHTQCGKPQESTGRGSAFLKAVQGSGDTSRHCLPTLADAKGLQDTGGTVNYFWGIPFCPDGVDPNQYTKVILCQLEVYQKSLKMAQRQLL
NKKGFGEPVLPRPPSLIQNECGQGEQASEKNECISEDMGDEDKEERQESRASDWHSKTKDFQESSIKSLKEKLLLEEEPTTSHGQSSQGIVEETSEEGNSVPASQ
SVAALTSKRSLVLMPESSAEEITVCPETQLSSSETFDLEREVSPGSRDILDGVRIIMADKEVGNKEDAEKEVAISTFSSSNQVSCPLCDQCFPPTKIERHAMYCN
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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 (1) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (1) 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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top