Evidence Details for SH2D7
Basic Information Top
| Gene Symbol: | SH2D7 ( - ) |
|---|---|
| Gene Full Name: | SH2 domain containing 7 |
| Band: | 15q25.1 |
| Quick Links | Entrez ID:646892; OMIM: NA; Uniprot ID:SH2D7_HUMAN; ENSEMBL ID: ENSG00000183476; HGNC ID: 34549 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SH2D7|646892|nucleotide
ATGGAGGACAGCCTAAAGCAGCTCAGCCTGGGGAGAGATCCTGAGGGGGCAGGGGACAGCCAGGCCCTGGCTGAGCTCCAGGAGCTTGCCCTGAAGTGGTTCATG
GAGACACAGGCCCCCTTCATTCTGCAGAACGGTGCCCTGCCTCCCTGGTTTCATGGATTCATCACCCGCAAGCAGACGGAGCAGCTACTCAGGGACAAAGCTCTT
GGTTCCTTCCTTATCCGCCTCAGTGACCGAGCCACTGGCTACATCTTGTCCTACAGGGGCAGTGATCGCTGCCGACATTTTGTCATCAACCAGCTTCGAAACCGG
CGTTACATCATCTCAGGAGACACCCAGAGCCACAGCACCCTGGCTGAGCTTGTGCACCATTACCAGGAGGCACAGCTCGAGCCCTTCAAAGAGATGCTGACTGCT
GCCTGCCCCCGGCCAGAGGACAATGATCTGTATGATGCCATCACCCGGGGCCTCCACCAGACCATCGTGGACCCAGAAAACCCACCTGCCACGGCATTCCTCACA
GTGGTCCCCGACAAGGCCGCCAGCCCCCGCTCTTCTCCAAAGCCCCAGGTCTCCTTCCTCCATGCACAGAAAAGCCTGGATGTGAGTCCCCGGAACCTCTCCCAG
GAGGAAAGCATGGAGGCTCCCATCAGAGTGTCTCCACTCCCTGAGAAGAGTTCCTCCCTCCTGGAAGAGTCTTTTGGAGGCCCCAGTGACATCATCTATGCAGAC
CTGAGGAGGATGAACCAGGCACGGCTAGGCTTGGGCACAGAGGGGTCCGGCAGGCATGGGCCAGTTCCAGCTGGCAGCCAGGCCTACTCCCCAGGCAGGGAGGCC
CAAAGGAGACTCTCAGATGGAGAACAGAACAGGCCTGATGGCCTGGGGCCTGTCCTTTCTGGGGTGAGCCCAGACCAGGGTCCCACAGAGTCTCCCACTTCCTGG
GGATGTTCTGATGCCATGGGATCCCTGGGGGCTACCTGGAGGCAGGAGTTTCCAAAGCTGAGCCAAGAGGCTCAGCCCTGCTCCCAGGGCAGCTCTGCAGATATC
TATGAGTTCATCGGGACAGAAGGCCTCCTGCAAGAGGCCAGGGACACACCAGACCAAGAAGGCAGCACCTATGAGCAGATCCCAGCTTGCTGGGGTGGCCCAGCC
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ATGGAGGACAGCCTAAAGCAGCTCAGCCTGGGGAGAGATCCTGAGGGGGCAGGGGACAGCCAGGCCCTGGCTGAGCTCCAGGAGCTTGCCCTGAAGTGGTTCATG
GAGACACAGGCCCCCTTCATTCTGCAGAACGGTGCCCTGCCTCCCTGGTTTCATGGATTCATCACCCGCAAGCAGACGGAGCAGCTACTCAGGGACAAAGCTCTT
GGTTCCTTCCTTATCCGCCTCAGTGACCGAGCCACTGGCTACATCTTGTCCTACAGGGGCAGTGATCGCTGCCGACATTTTGTCATCAACCAGCTTCGAAACCGG
CGTTACATCATCTCAGGAGACACCCAGAGCCACAGCACCCTGGCTGAGCTTGTGCACCATTACCAGGAGGCACAGCTCGAGCCCTTCAAAGAGATGCTGACTGCT
GCCTGCCCCCGGCCAGAGGACAATGATCTGTATGATGCCATCACCCGGGGCCTCCACCAGACCATCGTGGACCCAGAAAACCCACCTGCCACGGCATTCCTCACA
GTGGTCCCCGACAAGGCCGCCAGCCCCCGCTCTTCTCCAAAGCCCCAGGTCTCCTTCCTCCATGCACAGAAAAGCCTGGATGTGAGTCCCCGGAACCTCTCCCAG
GAGGAAAGCATGGAGGCTCCCATCAGAGTGTCTCCACTCCCTGAGAAGAGTTCCTCCCTCCTGGAAGAGTCTTTTGGAGGCCCCAGTGACATCATCTATGCAGAC
CTGAGGAGGATGAACCAGGCACGGCTAGGCTTGGGCACAGAGGGGTCCGGCAGGCATGGGCCAGTTCCAGCTGGCAGCCAGGCCTACTCCCCAGGCAGGGAGGCC
CAAAGGAGACTCTCAGATGGAGAACAGAACAGGCCTGATGGCCTGGGGCCTGTCCTTTCTGGGGTGAGCCCAGACCAGGGTCCCACAGAGTCTCCCACTTCCTGG
GGATGTTCTGATGCCATGGGATCCCTGGGGGCTACCTGGAGGCAGGAGTTTCCAAAGCTGAGCCAAGAGGCTCAGCCCTGCTCCCAGGGCAGCTCTGCAGATATC
TATGAGTTCATCGGGACAGAAGGCCTCCTGCAAGAGGCCAGGGACACACCAGACCAAGAAGGCAGCACCTATGAGCAGATCCCAGCTTGCTGGGGTGGCCCAGCC
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>SH2D7|646892|protein
MEDSLKQLSLGRDPEGAGDSQALAELQELALKWFMETQAPFILQNGALPPWFHGFITRKQTEQLLRDKALGSFLIRLSDRATGYILSYRGSDRCRHFVINQLRNR
RYIISGDTQSHSTLAELVHHYQEAQLEPFKEMLTAACPRPEDNDLYDAITRGLHQTIVDPENPPATAFLTVVPDKAASPRSSPKPQVSFLHAQKSLDVSPRNLSQ
EESMEAPIRVSPLPEKSSSLLEESFGGPSDIIYADLRRMNQARLGLGTEGSGRHGPVPAGSQAYSPGREAQRRLSDGEQNRPDGLGPVLSGVSPDQGPTESPTSW
GCSDAMGSLGATWRQEFPKLSQEAQPCSQGSSADIYEFIGTEGLLQEARDTPDQEGSTYEQIPACWGGPARAPHPGASPTYSPWVHGYKRISGTPELSEPGNTYE
QIPATKSKETGRTHKPDKLRRLFFTYRKHKF
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MEDSLKQLSLGRDPEGAGDSQALAELQELALKWFMETQAPFILQNGALPPWFHGFITRKQTEQLLRDKALGSFLIRLSDRATGYILSYRGSDRCRHFVINQLRNR
RYIISGDTQSHSTLAELVHHYQEAQLEPFKEMLTAACPRPEDNDLYDAITRGLHQTIVDPENPPATAFLTVVPDKAASPRSSPKPQVSFLHAQKSLDVSPRNLSQ
EESMEAPIRVSPLPEKSSSLLEESFGGPSDIIYADLRRMNQARLGLGTEGSGRHGPVPAGSQAYSPGREAQRRLSDGEQNRPDGLGPVLSGVSPDQGPTESPTSW
GCSDAMGSLGATWRQEFPKLSQEAQPCSQGSSADIYEFIGTEGLLQEARDTPDQEGSTYEQIPACWGGPARAPHPGASPTYSPWVHGYKRISGTPELSEPGNTYE
QIPATKSKETGRTHKPDKLRRLFFTYRKHKF
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Evidence summary TopClick 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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bonati, 2005 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top