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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018