Evidence Details for URGCP
Basic Information Top
Gene Symbol: | URGCP ( DKFZp666G166,DKFZp686O0457,URG4 ) |
---|---|
Gene Full Name: | upregulator of cell proliferation |
Band: | 7p13 |
Quick Links | Entrez 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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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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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 | - | FISH | autism | - | - | - | - | 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 screen | ASD | 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
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