AutismKB 2.0

Evidence Details for URGCP


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Basic Information Top
Gene Symbol:URGCP ( DKFZp666G166,DKFZp686O0457,URG4 )
Gene Full Name: upregulator of cell proliferation
Band: 7p13
Quick LinksEntrez ID:55665; OMIM: 610337; Uniprot ID:URGCP_HUMAN; ENSEMBL ID: ENSG00000106608; HGNC ID: 30890
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>URGCP|55665|nucleotide
ATGGCGTCGCCCGGGATAGAAGTGGAATTACTGGGCAAAGGGCATTCAGATTTGGGAGAAGTAGCCCCAGAAATAAAAGCATCAGAGAGACGAACAGCTGTGGCC
ATTGCAGATTTGGAATGGAGAGAAATGGAAGGAGATGATTGCGAGTTCCGTTATGGAGATGGTACAAATGAGGCTCAGGACAATGATTTTCCAACAGTGGAGAGA
AGCAGGCTTCAAGAAATGCTGTCACTTTTGGGCCTAGAGACGTACCAGGTCCAGAAACTCAGCCTCCAGGACTCTCTGCAGATCAGTTTTGACAGTATGAAGAAC
TGGGCCCCTCAGGTTCCCAAAGACTTGCCCTGGAATTTCCTCAGGAAGTTGCAGGCCCTCAATGCTGATGCCAGGAATACCACTATGGTGCTGGACGTGCTCCCA
GACGCCAGGCCTGTGGAGAAGGAGAGCCAGATGGAAGAGGAGATCATCTACTGGGACCCAGCTGATGACCTTGCTGCCGACATTTATTCCTTTTCTGAGCTGCCC
ACCCCTGATACGCCAGTGAACCCCTTAGACCTTCTCTGTGCCCTGCTGCTCTCCTCAGACAGTTTCCTGCAACAAGAAATAGCGTTGAAAATGGCCCTCTGCCAG
TTTGCACTCCCACTCGTGTTGCCTGACTCGGAGAACCACTACCATACATTTCTGCTGTGGGCCATGCGGGGCATTGTGAGGACATGGTGGTCCCAGCCCCCAAGG
GGCATGGGGAGCTTCCGGGAAGACAGCGTGGTCTTGTCCAGGGCGCCCGCCTTCGCCTTCGTGCGCATGGACGTCAGTAGCAACTCCAAGTCCCAGCTTCTCAAC
GCCGTCCTCAGCCCGGGCCACAGGCAGTGGGACTGCTTCTGGCATCGGGACCTCAACTTGGGCACCAATGCCCGGGAGATTTCGGATGGGTTGGTAGAAATTTCC
TGGTTTTTTCCCAGCGGAAGGGAGGACTTGGACATTTTCCCAGAACCTGTGGCCTTTCTGAACCTGAGAGGTGACATCGGGTCTCACTGGCTGCAGTTTAAGCTC
TTGACAGAAATCTCCTCCGCTGTGTTTATATTGACTGACAATATCAGTAAGAAGGAATACAAATTGCTGTACTCCATGAAGGAGTCAACCACAAAATACTACTTC
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>URGCP|55665|protein
MASPGIEVELLGKGHSDLGEVAPEIKASERRTAVAIADLEWREMEGDDCEFRYGDGTNEAQDNDFPTVERSRLQEMLSLLGLETYQVQKLSLQDSLQISFDSMKN
WAPQVPKDLPWNFLRKLQALNADARNTTMVLDVLPDARPVEKESQMEEEIIYWDPADDLAADIYSFSELPTPDTPVNPLDLLCALLLSSDSFLQQEIALKMALCQ
FALPLVLPDSENHYHTFLLWAMRGIVRTWWSQPPRGMGSFREDSVVLSRAPAFAFVRMDVSSNSKSQLLNAVLSPGHRQWDCFWHRDLNLGTNAREISDGLVEIS
WFFPSGREDLDIFPEPVAFLNLRGDIGSHWLQFKLLTEISSAVFILTDNISKKEYKLLYSMKESTTKYYFILSPYRGKRNTNLRFLNKLIPVLKIDHSHVLVKVS
STDSDSFVKRIRAIVGNVLRAPCRRVSVEDMAHAARKLGLKVDEDCEECQKAKDRMERITRKIKDSDAYRRDELRLQGDPWRKAAQVEKEFCQLQWAVDPPEKHR
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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) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top