Evidence Details for DOC2A
Basic Information Top
Gene Symbol: | DOC2A ( Doc2 ) |
---|---|
Gene Full Name: | double C2-like domains, alpha |
Band: | 16p11.2 |
Quick Links | Entrez ID:8448; OMIM: 604567; Uniprot ID:DOC2A_HUMAN; ENSEMBL ID: ENSG00000149927; HGNC ID: 2985 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DOC2A|8448|nucleotide
ATGAGGGGCCGCAGGGGCGATCGCATGACCATCAACATCCAGGAGCACATGGCCATCAACGTGTGCCCCGGGCCCATCCGGCCCATCCGCCAGATCTCTGACTAC
TTCCCCCGGGGACCAGGACCTGAAGGGGGCGGCGGGGGCGGCGGGGAGGCCCCCGCCCATCTGGTCCCCCTGGCTCTGGCCCCCCCTGCAGCCCTCCTTGGGGCC
ACCACGCCTGAGGATGGTGCGGAGGTGGACAGCTATGACTCGGATGATGCCACCGCCCTAGGCACGCTGGAGTTTGACCTTCTCTACGACCGGGCCTCCTGCACT
CTGCACTGTAGCATCCTCAGGGCCAAGGGCCTCAAGCCCATGGATTTCAATGGCCTCGCCGACCCCTACGTCAAGCTGCACTTGCTGCCTGGAGCCTGTAAGGCC
AATAAGCTAAAAACGAAGACTCAGAGGAACACACTGAATCCCGTGTGGAATGAGGACCTGACTTACAGCGGGATCACAGATGACGACATCACGCACAAGGTGCTC
AGGATCGCCGTCTGTGATGAGGACAAGCTGAGTCACAATGAGTTTATTGGGGAGATCCGCGTGCCCCTCCGCCGCCTCAAGCCTTCGCAGAAGAAGCATTTTAAC
ATCTGCCTCGAGCGCCAGGTCCCGCTGGCGTCCCCCTCTTCCATGTCAGCGGCGCTGAGGGGCATCTCCTGTTATCTGAAGGAGTTGGAGCAGGCGGAGCAGGGG
CAGGGGCTGCTGGAGGAGCGTGGCCGCATCCTGCTGAGTCTCAGCTACAGCTCGCGGCGCCGGGGACTGCTGGTAGGCATCTTGCGCTGCGCCCATCTGGCTGCC
ATGGACGTCAACGGTTACTCGGACCCCTACGTCAAGACGTACCTGAGGCCCGATGTGGACAAGAAATCCAAGCATAAGACGTGTGTGAAGAAGAAGACTCTCAAC
CCAGAATTTAACGAGGAGTTTTTCTACGAGATAGAGCTCTCCACTCTGGCCACCAAGACCCTGGAAGTCACCGTCTGGGACTATGACATTGGCAAATCCAATGAC
TTCATTGGTGGCGTGTCCCTGGGGCCAGGTGCCCGAGGCGAGGCTCGGAAGCACTGGAGTGACTGCCTGCAGCAGCCGGACGCAGCCCTGGAGCGCTGGCACACC
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ATGAGGGGCCGCAGGGGCGATCGCATGACCATCAACATCCAGGAGCACATGGCCATCAACGTGTGCCCCGGGCCCATCCGGCCCATCCGCCAGATCTCTGACTAC
TTCCCCCGGGGACCAGGACCTGAAGGGGGCGGCGGGGGCGGCGGGGAGGCCCCCGCCCATCTGGTCCCCCTGGCTCTGGCCCCCCCTGCAGCCCTCCTTGGGGCC
ACCACGCCTGAGGATGGTGCGGAGGTGGACAGCTATGACTCGGATGATGCCACCGCCCTAGGCACGCTGGAGTTTGACCTTCTCTACGACCGGGCCTCCTGCACT
CTGCACTGTAGCATCCTCAGGGCCAAGGGCCTCAAGCCCATGGATTTCAATGGCCTCGCCGACCCCTACGTCAAGCTGCACTTGCTGCCTGGAGCCTGTAAGGCC
AATAAGCTAAAAACGAAGACTCAGAGGAACACACTGAATCCCGTGTGGAATGAGGACCTGACTTACAGCGGGATCACAGATGACGACATCACGCACAAGGTGCTC
AGGATCGCCGTCTGTGATGAGGACAAGCTGAGTCACAATGAGTTTATTGGGGAGATCCGCGTGCCCCTCCGCCGCCTCAAGCCTTCGCAGAAGAAGCATTTTAAC
ATCTGCCTCGAGCGCCAGGTCCCGCTGGCGTCCCCCTCTTCCATGTCAGCGGCGCTGAGGGGCATCTCCTGTTATCTGAAGGAGTTGGAGCAGGCGGAGCAGGGG
CAGGGGCTGCTGGAGGAGCGTGGCCGCATCCTGCTGAGTCTCAGCTACAGCTCGCGGCGCCGGGGACTGCTGGTAGGCATCTTGCGCTGCGCCCATCTGGCTGCC
ATGGACGTCAACGGTTACTCGGACCCCTACGTCAAGACGTACCTGAGGCCCGATGTGGACAAGAAATCCAAGCATAAGACGTGTGTGAAGAAGAAGACTCTCAAC
CCAGAATTTAACGAGGAGTTTTTCTACGAGATAGAGCTCTCCACTCTGGCCACCAAGACCCTGGAAGTCACCGTCTGGGACTATGACATTGGCAAATCCAATGAC
TTCATTGGTGGCGTGTCCCTGGGGCCAGGTGCCCGAGGCGAGGCTCGGAAGCACTGGAGTGACTGCCTGCAGCAGCCGGACGCAGCCCTGGAGCGCTGGCACACC
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>DOC2A|8448|protein
MRGRRGDRMTINIQEHMAINVCPGPIRPIRQISDYFPRGPGPEGGGGGGGEAPAHLVPLALAPPAALLGATTPEDGAEVDSYDSDDATALGTLEFDLLYDRASCT
LHCSILRAKGLKPMDFNGLADPYVKLHLLPGACKANKLKTKTQRNTLNPVWNEDLTYSGITDDDITHKVLRIAVCDEDKLSHNEFIGEIRVPLRRLKPSQKKHFN
ICLERQVPLASPSSMSAALRGISCYLKELEQAEQGQGLLEERGRILLSLSYSSRRRGLLVGILRCAHLAAMDVNGYSDPYVKTYLRPDVDKKSKHKTCVKKKTLN
PEFNEEFFYEIELSTLATKTLEVTVWDYDIGKSNDFIGGVSLGPGARGEARKHWSDCLQQPDAALERWHTLTSELPPAAGALSSA
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MRGRRGDRMTINIQEHMAINVCPGPIRPIRQISDYFPRGPGPEGGGGGGGEAPAHLVPLALAPPAALLGATTPEDGAEVDSYDSDDATALGTLEFDLLYDRASCT
LHCSILRAKGLKPMDFNGLADPYVKLHLLPGACKANKLKTKTQRNTLNPVWNEDLTYSGITDDDITHKVLRIAVCDEDKLSHNEFIGEIRVPLRRLKPSQKKHFN
ICLERQVPLASPSSMSAALRGISCYLKELEQAEQGQGLLEERGRILLSLSYSSRRRGLLVGILRCAHLAAMDVNGYSDPYVKTYLRPDVDKKSKHKTCVKKKTLN
PEFNEEFFYEIELSTLATKTLEVTVWDYDIGKSNDFIGGVSLGPGARGEARKHWSDCLQQPDAALERWHTLTSELPPAAGALSSA
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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 (14) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (14) |
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 | ||||||
Finelli, 2004 | - | FISH | autistic feature | - | - | - | - | 2 | - | 2 | ||
Sebat, 2007 | USA | aCGH | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | ||
Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Kumar, 2008 | USA | aCGH | ASD | - | - | - | - | 712 | 837 | 1549 | ||
Christian, 2008 | USA | aCGH | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 | ||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Shen, 2010 | China | aCGH | ASD | 1 | 1 | - | - | - | - | - | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 | ||
Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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