Evidence Details for DGCR14
Basic Information Top
Gene Symbol: | DGCR14 ( DGCR13,DGS-H,DGS-I,DGSH,DGSI,ES2,Es2el ) |
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Gene Full Name: | DiGeorge syndrome critical region gene 14 |
Band: | 22q11.21|22q11.2 |
Quick Links | Entrez ID:8220; OMIM: 601755; Uniprot ID:DGC14_HUMAN; ENSEMBL ID: ENSG00000100056; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DGCR14|8220|nucleotide
ATGGAGACGCCGGGCGCATCAGCGTCGTCCTTGTTGCTTCCCGCCGCGTCCAGGCCCCCGAGGAAGCGCGAGGCGGGAGAGGCTGGGGCTGCGACGAGCAAGCAG
CGGGTCCTGGACGAGGAAGAGTATATCGAGGGCCTCCAGACGGTCATCCAAAGGGATTTCTTTCCTGATGTGGAGAAGCTCCAGGCACAGAAGGAGTACCTGGAA
GCCGAGGAGAATGGAGACTTGGAACGGATGCGCCAGATTGCCATCAAGTTTGGCTCTGCCTTGGGCAAGATGTCCCGGGAGCCCCCGCCACCCTATGTGACTCCA
GCCACATTTGAAACCCCTGAGGTGCATGCAGGCACTGGAGTGGTGGGCAACAAGCCCAGGCCCCGCGGCCGAGGCCTGGAGGATGGAGAGGCTGGAGAGGAGGAG
GAGAAGGAGCCGCTGCCCAGCCTAGATGTCTTCCTGAGCCGCTACACGAGTGAGGACAATGCCTCCTTCCAGGAGATCATGGAGGTGGCCAAGGAGAGAAGCCGG
GCACGCCACGCTTGGCTCTACCAGGCTGAGGAAGAGTTTGAGAAGAGGCAGAAAGATAATCTCGAACTCCCGTCAGCAGAGCACCAGGCCATCGAGAGCAGCCAG
GCCAGTGTGGAGACCTGGAAGTACAAGGCCAAGAATTCCCTCATGTACTATCCAGAGGGTGTCCCTGACGAGGAGCAGCTGTTTAAGAAGCCCCGGCAGGTGGTA
CATAAGAACACGCGCTTCCTTAGGGACCCCTTCAGCCAAGCCCTGAGCAGGTGCCAGCTCCAGCAGGCAGCCGCCCTCAATGCCCAGCACAAACAGGGCAAGGTG
GGCCCCGATGGCAAGGAGCTGATCCCCCAGGAGTCCCCTCGAGTGGGTGGATTTGGATTTGTTGCCACTCCTTCCCCTGCCCCTGGTGTGAACGAGTCCCCGATG
ATGACCTGGGGGGAGGTTGAGAACACACCCTTGAGAGTTGAAGGGTCGGAAACGCCCTACGTGGACAGGACACCCGGCCCAGCTTTTAAGATCCTGGAGCCAGGC
CGCAGGGAGCGGCTGGGTCTGAAGATGGCCAACGAGGCCGCTGCCAAGAACCGGGCCAAGAAGCAGGAAGCCTTGCGGAGAGTGACGGAGAATCTGGCCAGCCTC
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ATGGAGACGCCGGGCGCATCAGCGTCGTCCTTGTTGCTTCCCGCCGCGTCCAGGCCCCCGAGGAAGCGCGAGGCGGGAGAGGCTGGGGCTGCGACGAGCAAGCAG
CGGGTCCTGGACGAGGAAGAGTATATCGAGGGCCTCCAGACGGTCATCCAAAGGGATTTCTTTCCTGATGTGGAGAAGCTCCAGGCACAGAAGGAGTACCTGGAA
GCCGAGGAGAATGGAGACTTGGAACGGATGCGCCAGATTGCCATCAAGTTTGGCTCTGCCTTGGGCAAGATGTCCCGGGAGCCCCCGCCACCCTATGTGACTCCA
GCCACATTTGAAACCCCTGAGGTGCATGCAGGCACTGGAGTGGTGGGCAACAAGCCCAGGCCCCGCGGCCGAGGCCTGGAGGATGGAGAGGCTGGAGAGGAGGAG
GAGAAGGAGCCGCTGCCCAGCCTAGATGTCTTCCTGAGCCGCTACACGAGTGAGGACAATGCCTCCTTCCAGGAGATCATGGAGGTGGCCAAGGAGAGAAGCCGG
GCACGCCACGCTTGGCTCTACCAGGCTGAGGAAGAGTTTGAGAAGAGGCAGAAAGATAATCTCGAACTCCCGTCAGCAGAGCACCAGGCCATCGAGAGCAGCCAG
GCCAGTGTGGAGACCTGGAAGTACAAGGCCAAGAATTCCCTCATGTACTATCCAGAGGGTGTCCCTGACGAGGAGCAGCTGTTTAAGAAGCCCCGGCAGGTGGTA
CATAAGAACACGCGCTTCCTTAGGGACCCCTTCAGCCAAGCCCTGAGCAGGTGCCAGCTCCAGCAGGCAGCCGCCCTCAATGCCCAGCACAAACAGGGCAAGGTG
GGCCCCGATGGCAAGGAGCTGATCCCCCAGGAGTCCCCTCGAGTGGGTGGATTTGGATTTGTTGCCACTCCTTCCCCTGCCCCTGGTGTGAACGAGTCCCCGATG
ATGACCTGGGGGGAGGTTGAGAACACACCCTTGAGAGTTGAAGGGTCGGAAACGCCCTACGTGGACAGGACACCCGGCCCAGCTTTTAAGATCCTGGAGCCAGGC
CGCAGGGAGCGGCTGGGTCTGAAGATGGCCAACGAGGCCGCTGCCAAGAACCGGGCCAAGAAGCAGGAAGCCTTGCGGAGAGTGACGGAGAATCTGGCCAGCCTC
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>DGCR14|8220|protein
METPGASASSLLLPAASRPPRKREAGEAGAATSKQRVLDEEEYIEGLQTVIQRDFFPDVEKLQAQKEYLEAEENGDLERMRQIAIKFGSALGKMSREPPPPYVTP
ATFETPEVHAGTGVVGNKPRPRGRGLEDGEAGEEEEKEPLPSLDVFLSRYTSEDNASFQEIMEVAKERSRARHAWLYQAEEEFEKRQKDNLELPSAEHQAIESSQ
ASVETWKYKAKNSLMYYPEGVPDEEQLFKKPRQVVHKNTRFLRDPFSQALSRCQLQQAAALNAQHKQGKVGPDGKELIPQESPRVGGFGFVATPSPAPGVNESPM
MTWGEVENTPLRVEGSETPYVDRTPGPAFKILEPGRRERLGLKMANEAAAKNRAKKQEALRRVTENLASLTPKGLSPAMSPALQRLVSRTASKYTDRALRASYTP
SPARSTHLKTPASGLQTPTSTPAPGSATRTPLTQDPASITDNLLQLPARRKASDFF
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METPGASASSLLLPAASRPPRKREAGEAGAATSKQRVLDEEEYIEGLQTVIQRDFFPDVEKLQAQKEYLEAEENGDLERMRQIAIKFGSALGKMSREPPPPYVTP
ATFETPEVHAGTGVVGNKPRPRGRGLEDGEAGEEEEKEPLPSLDVFLSRYTSEDNASFQEIMEVAKERSRARHAWLYQAEEEFEKRQKDNLELPSAEHQAIESSQ
ASVETWKYKAKNSLMYYPEGVPDEEQLFKKPRQVVHKNTRFLRDPFSQALSRCQLQQAAALNAQHKQGKVGPDGKELIPQESPRVGGFGFVATPSPAPGVNESPM
MTWGEVENTPLRVEGSETPYVDRTPGPAFKILEPGRRERLGLKMANEAAAKNRAKKQEALRRVTENLASLTPKGLSPAMSPALQRLVSRTASKYTDRALRASYTP
SPARSTHLKTPASGLQTPTSTPAPGSATRTPLTQDPASITDNLLQLPARRKASDFF
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) | 2 (10) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 16 (12) |
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 | ||||||
Roubertie, 2001 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Niklasson, 2002 | Sweden | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Ramelli, 2008 | - | FISH | ASD | - | - | - | - | 1 | - | 1 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Christian, 2008 | USA | aCGH | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 | ||
Bucan, 2009 | USA | SNP microarray | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bailey, 1998 | - | microsatellite-based genomic screen | PDD | 99 | - | 99 | - | - | - | - |
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 |
---|---|---|---|---|
Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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