Evidence Details for DCAKD
Basic Information Top
Gene Symbol: | DCAKD ( FLJ22955 ) |
---|---|
Gene Full Name: | dephospho-CoA kinase domain containing |
Band: | 17q21.31 |
Quick Links | Entrez ID:79877; OMIM: NA; Uniprot ID:DCAKD_HUMAN; ENSEMBL ID: ENSG00000172992; HGNC ID: 26238 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DCAKD|79877|nucleotide
ATGTTTCTGGTGGGCCTGACAGGGGGCATTGCCTCAGGCAAGAGCTCAGTGATCCAGGTGTTCCAGCAGCTGGGCTGTGCGGTGATTGACGTGGACGTGATGGCC
CGGCACGTCGTGCAGCCAGGATACCCTGCCCACCGGCGCATCGTAGAGGTCTTCGGCACTGAGGTCTTGCTGGAGAACGGCGACATAAATCGCAAGGTCCTGGGG
GACCTGATCTTTAACCAGCCTGACCGGCGGCAGCTGCTCAACGCCATCACCCACCCCGAGATTCGCAAGGAGATGATGAAGGAGACGTTCAAGTACTTCCTCCGG
GGATACCGCTACGTGATTCTGGATATCCCCCTGCTGTTTGAGACCAAGAAGTTGCTCAAGTACATGAAGCACACCGTGGTAGTATACTGCGACCGGGACACACAG
CTGGCACGGCTGATGCGGCGGAACAGCCTGAACCGCAAGGACGCAGAGGCCCGCATCAATGCCCAGCTGCCCCTGACAGACAAGGCCCGCATGGCCCGCCATGTC
CTAGACAACTCGGGCGAGTGGAGTGTCACCAAACGCCAGGTCATCCTCTTGCACACTGAGCTGGAGCGCTCCCTGGAGTACCTGCCGCTGAGGTTTGGGGTCCTC
ACAGGGCTCGCTGCCATTGCCAGCCTCCTCTACCTGCTCACCCACTACCTTCTGCCTTACGCCTAG
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ATGTTTCTGGTGGGCCTGACAGGGGGCATTGCCTCAGGCAAGAGCTCAGTGATCCAGGTGTTCCAGCAGCTGGGCTGTGCGGTGATTGACGTGGACGTGATGGCC
CGGCACGTCGTGCAGCCAGGATACCCTGCCCACCGGCGCATCGTAGAGGTCTTCGGCACTGAGGTCTTGCTGGAGAACGGCGACATAAATCGCAAGGTCCTGGGG
GACCTGATCTTTAACCAGCCTGACCGGCGGCAGCTGCTCAACGCCATCACCCACCCCGAGATTCGCAAGGAGATGATGAAGGAGACGTTCAAGTACTTCCTCCGG
GGATACCGCTACGTGATTCTGGATATCCCCCTGCTGTTTGAGACCAAGAAGTTGCTCAAGTACATGAAGCACACCGTGGTAGTATACTGCGACCGGGACACACAG
CTGGCACGGCTGATGCGGCGGAACAGCCTGAACCGCAAGGACGCAGAGGCCCGCATCAATGCCCAGCTGCCCCTGACAGACAAGGCCCGCATGGCCCGCCATGTC
CTAGACAACTCGGGCGAGTGGAGTGTCACCAAACGCCAGGTCATCCTCTTGCACACTGAGCTGGAGCGCTCCCTGGAGTACCTGCCGCTGAGGTTTGGGGTCCTC
ACAGGGCTCGCTGCCATTGCCAGCCTCCTCTACCTGCTCACCCACTACCTTCTGCCTTACGCCTAG
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>DCAKD|79877|protein
MFLVGLTGGIASGKSSVIQVFQQLGCAVIDVDVMARHVVQPGYPAHRRIVEVFGTEVLLENGDINRKVLGDLIFNQPDRRQLLNAITHPEIRKEMMKETFKYFLR
GYRYVILDIPLLFETKKLLKYMKHTVVVYCDRDTQLARLMRRNSLNRKDAEARINAQLPLTDKARMARHVLDNSGEWSVTKRQVILLHTELERSLEYLPLRFGVL
TGLAAIASLLYLLTHYLLPYA
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MFLVGLTGGIASGKSSVIQVFQQLGCAVIDVDVMARHVVQPGYPAHRRIVEVFGTEVLLENGDINRKVLGDLIFNQPDRRQLLNAITHPEIRKEMMKETFKYFLR
GYRYVILDIPLLFETKKLLKYMKHTVVVYCDRDTQLARLMRRNSLNRKDAEARINAQLPLTDKARMARHVLDNSGEWSVTKRQVILLHTELERSLEYLPLRFGVL
TGLAAIASLLYLLTHYLLPYA
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 2 (4) |
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 | ||||||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
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 |
---|---|---|---|---|
Jiang YH, 2013 | - | 32 | 39 | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque |
Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Bi C, 2012 | China | GAII | - | - | - | - | 67 | - |
Low Scale Gene Studies Top
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