Evidence Details for CD96
Basic Information Top
Gene Symbol: | CD96 ( DKFZp667E2122,MGC22596,TACTILE ) |
---|---|
Gene Full Name: | CD96 molecule |
Band: | 3q13.13-q13.2 |
Quick Links | Entrez ID:10225; OMIM: 606037; Uniprot ID:TACT_HUMAN; ENSEMBL ID: ENSG00000153283; HGNC ID: 16892 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CD96|10225|nucleotide
ATGGAGAAAAAATGGAAATACTGTGCTGTCTATTACATCATCCAGATACATTTTGTCAAGGGAGTTTGGGAAAAAACAGTCAACACAGAAGAAAATGTTTATGCT
ACACTTGGCTCTGATGTCAACCTGACCTGCCAAACACAGACAGTAGGCTTCTTCGTGCAGATGCAATGGTCCAAGGTCACCAATAAGATAGACCTGATTGCTGTC
TATCATCCCCAATACGGCTTCTACTGTGCCTATGGGAGACCCTGTGAGTCACTTGTGACTTTCACAGAAACTCCTGAGAATGGGTCAAAATGGACTCTGCACTTA
AGGAATATGTCTTGTTCAGTCAGTGGAAGGTACGAGTGTATGCTTGTTCTGTATCCAGAGGGCATTCAGACTAAAATCTACAACCTTCTCATTCAGACACACGTT
ACAGCAGATGAATGGAACAGCAACCATACGATAGAAATAGAGATAAATCAGACTCTGGAAATACCATGCTTTCAAAATAGCTCCTCAAAAATTTCATCTGAGTTC
ACCTATGCATGGTCGGTGGAGGATAATGGAACTCAGGAAACACTTATCTCCCAAAATCACCTCATCAGCAATTCCACATTACTTAAAGATAGAGTCAAGCTTGGT
ACAGACTACAGACTCCACCTCTCTCCAGTCCAAATCTTCGATGATGGGCGGAAGTTCTCTTGCCACATTAGAGTCGGTCCTAACAAAATCTTGAGGAGCTCCACC
ACAGTCAAGGTTTTTGCTAAACCAGAAATCCCTGTGATTGTGGAAAATAACTCCACGGATGTCTTGGTAGAGAGAAGATTTACCTGCTTACTAAAGAATGTATTT
CCCAAAGCAAATATCACATGGTTTATAGATGGAAGTTTTCTTCATGATGAAAAAGAAGGAATATATATTACTAATGAAGAGAGAAAAGGCAAAGATGGATTTTTG
GAACTGAAGTCTGTTTTAACAAGGGTACATAGTAATAAACCAGCCCAATCAGACAACTTGACCATTTGGTGTATGGCTCTGTCTCCAGTCCCAGGAAATAAAGTG
TGGAACATCTCATCAGAAAAGATCACTTTTCTCTTAGGTTCTGAAATTTCCTCAACAGACCCTCCACTGAGTGTTACAGAATCTACCCTTGACACCCAACCTTCT
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ATGGAGAAAAAATGGAAATACTGTGCTGTCTATTACATCATCCAGATACATTTTGTCAAGGGAGTTTGGGAAAAAACAGTCAACACAGAAGAAAATGTTTATGCT
ACACTTGGCTCTGATGTCAACCTGACCTGCCAAACACAGACAGTAGGCTTCTTCGTGCAGATGCAATGGTCCAAGGTCACCAATAAGATAGACCTGATTGCTGTC
TATCATCCCCAATACGGCTTCTACTGTGCCTATGGGAGACCCTGTGAGTCACTTGTGACTTTCACAGAAACTCCTGAGAATGGGTCAAAATGGACTCTGCACTTA
AGGAATATGTCTTGTTCAGTCAGTGGAAGGTACGAGTGTATGCTTGTTCTGTATCCAGAGGGCATTCAGACTAAAATCTACAACCTTCTCATTCAGACACACGTT
ACAGCAGATGAATGGAACAGCAACCATACGATAGAAATAGAGATAAATCAGACTCTGGAAATACCATGCTTTCAAAATAGCTCCTCAAAAATTTCATCTGAGTTC
ACCTATGCATGGTCGGTGGAGGATAATGGAACTCAGGAAACACTTATCTCCCAAAATCACCTCATCAGCAATTCCACATTACTTAAAGATAGAGTCAAGCTTGGT
ACAGACTACAGACTCCACCTCTCTCCAGTCCAAATCTTCGATGATGGGCGGAAGTTCTCTTGCCACATTAGAGTCGGTCCTAACAAAATCTTGAGGAGCTCCACC
ACAGTCAAGGTTTTTGCTAAACCAGAAATCCCTGTGATTGTGGAAAATAACTCCACGGATGTCTTGGTAGAGAGAAGATTTACCTGCTTACTAAAGAATGTATTT
CCCAAAGCAAATATCACATGGTTTATAGATGGAAGTTTTCTTCATGATGAAAAAGAAGGAATATATATTACTAATGAAGAGAGAAAAGGCAAAGATGGATTTTTG
GAACTGAAGTCTGTTTTAACAAGGGTACATAGTAATAAACCAGCCCAATCAGACAACTTGACCATTTGGTGTATGGCTCTGTCTCCAGTCCCAGGAAATAAAGTG
TGGAACATCTCATCAGAAAAGATCACTTTTCTCTTAGGTTCTGAAATTTCCTCAACAGACCCTCCACTGAGTGTTACAGAATCTACCCTTGACACCCAACCTTCT
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>CD96|10225|protein
MEKKWKYCAVYYIIQIHFVKGVWEKTVNTEENVYATLGSDVNLTCQTQTVGFFVQMQWSKVTNKIDLIAVYHPQYGFYCAYGRPCESLVTFTETPENGSKWTLHL
RNMSCSVSGRYECMLVLYPEGIQTKIYNLLIQTHVTADEWNSNHTIEIEINQTLEIPCFQNSSSKISSEFTYAWSVEDNGTQETLISQNHLISNSTLLKDRVKLG
TDYRLHLSPVQIFDDGRKFSCHIRVGPNKILRSSTTVKVFAKPEIPVIVENNSTDVLVERRFTCLLKNVFPKANITWFIDGSFLHDEKEGIYITNEERKGKDGFL
ELKSVLTRVHSNKPAQSDNLTIWCMALSPVPGNKVWNISSEKITFLLGSEISSTDPPLSVTESTLDTQPSPASSVSPARYPATSSVTLVDVSALRPNTTPQPSNS
SMTTRGFNYPWTSSGTDTKKSVSRIPSETYSSSPSGAGSTLHDNVFTSTARAFSEVPTTANGSTKTNHVHITGIVVNKPKDGMSWPVIVAALLFCCMILFGLGVR
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MEKKWKYCAVYYIIQIHFVKGVWEKTVNTEENVYATLGSDVNLTCQTQTVGFFVQMQWSKVTNKIDLIAVYHPQYGFYCAYGRPCESLVTFTETPENGSKWTLHL
RNMSCSVSGRYECMLVLYPEGIQTKIYNLLIQTHVTADEWNSNHTIEIEINQTLEIPCFQNSSSKISSEFTYAWSVEDNGTQETLISQNHLISNSTLLKDRVKLG
TDYRLHLSPVQIFDDGRKFSCHIRVGPNKILRSSTTVKVFAKPEIPVIVENNSTDVLVERRFTCLLKNVFPKANITWFIDGSFLHDEKEGIYITNEERKGKDGFL
ELKSVLTRVHSNKPAQSDNLTIWCMALSPVPGNKVWNISSEKITFLLGSEISSTDPPLSVTESTLDTQPSPASSVSPARYPATSSVTLVDVSALRPNTTPQPSNS
SMTTRGFNYPWTSSGTDTKKSVSRIPSETYSSSPSGAGSTLHDNVFTSTARAFSEVPTTANGSTKTNHVHITGIVVNKPKDGMSWPVIVAALLFCCMILFGLGVR
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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) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (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 | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
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
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | - | AD | 22 (13.64%) |
1.3 | Up | 0.0991 | |||
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Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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