Evidence Details for SH2D4A
Basic Information Top
| Gene Symbol: | SH2D4A ( FLJ20967,SH2A ) |
|---|---|
| Gene Full Name: | SH2 domain containing 4A |
| Band: | 8p21.3 |
| Quick Links | Entrez ID:63898; OMIM: NA; Uniprot ID:SH24A_HUMAN; ENSEMBL ID: ENSG00000104611; HGNC ID: 26102 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SH2D4A|63898|nucleotide
ATGCTGAAACAGATACTGTCGGAGATGTACATAGATCCTGATCTACTGGCAGAGCTCAGCGAAGAACAGAAACAGATCCTGTTCTTCAAGATGAGAGAGGAACAG
ATCCGACGATGGAAAGAAAGAGAAGCAGCTATGGAAAGAAAGGAGTCCCTGCCAGTGAAACCCAGACCAAAGAAAGAGAATGGCAAATCGGTTCATTGGAAACTT
GGAGCTGATAAGGAAGTCTGGGTATGGGTGATGGGCGAACACCATCTAGATAAACCCTATGATGTGCTCTGTAATGAAATTATTGCTGAGAGGGCCCGGCTGAAA
GCAGAACAGGAGGCAGAAGAGCCCAGAAAAACTCACTCTGAAGAATTCACCAATAGCTTGAAAACAAAATCACAGTACCATGATCTGCAGGCTCCGGATAACCAG
CAGACTAAAGACATCTGGAAGAAAGTGGCAGAAAAGGAGGAACTGGAGCAAGGATCGAGGCCAGCACCAACCCTGGAAGAAGAGAAAATCCGATCACTCTCCAGT
TCTTCAAGAAATATTCAACAAATGTTGGCAGATTCAATCAATCGTATGAAGGCATATGCATTTCACCAGAAGAAAGAATCTATGAAGAAAAAACAAGATGAAGAA
ATAAATCAAATAGAAGAAGAGAGAACGAAGCAGATTTGTAAGAGCTGGAAAGAAGACTCGGAATGGCAGGCATCTCTGCGAAAATCCAAAGCAGCTGATGAGAAG
AGACGCTCCTTGGCTAAACAAGCACGAGAAGACTACAAGAGGTTATCCCTCGGGGCCCAGAAAGGAAGAGGCGGTGAGAGGCTGCAAAGCCCCTTGCGTGTTCCG
CAGAAACCAGAAAGACCTCCCCTTCCACCCAAGCCTCAGTTCCTAAACTCAGGGGCATATCCTCAAAAACCTCTTAGAAATCAGGGAGTGGTGAGGACACTGTCC
AGCTCTGCCCAAGAGGACATCATCCGGTGGTTTAAAGAGGAGCAGCTACCACTTCGAGCGGGCTACCAGAAAACCTCAGACACCATAGCCCCCTGGTTCCATGGA
ATTCTCACACTCAAGAAAGCAAATGAACTTCTTCTGAGCACAGGCATGCCCGGCAGTTTTCTCATCCGAGTCAGTGAAAGGATCAAAGGCTATGCCCTGTCCTAT
Show »
ATGCTGAAACAGATACTGTCGGAGATGTACATAGATCCTGATCTACTGGCAGAGCTCAGCGAAGAACAGAAACAGATCCTGTTCTTCAAGATGAGAGAGGAACAG
ATCCGACGATGGAAAGAAAGAGAAGCAGCTATGGAAAGAAAGGAGTCCCTGCCAGTGAAACCCAGACCAAAGAAAGAGAATGGCAAATCGGTTCATTGGAAACTT
GGAGCTGATAAGGAAGTCTGGGTATGGGTGATGGGCGAACACCATCTAGATAAACCCTATGATGTGCTCTGTAATGAAATTATTGCTGAGAGGGCCCGGCTGAAA
GCAGAACAGGAGGCAGAAGAGCCCAGAAAAACTCACTCTGAAGAATTCACCAATAGCTTGAAAACAAAATCACAGTACCATGATCTGCAGGCTCCGGATAACCAG
CAGACTAAAGACATCTGGAAGAAAGTGGCAGAAAAGGAGGAACTGGAGCAAGGATCGAGGCCAGCACCAACCCTGGAAGAAGAGAAAATCCGATCACTCTCCAGT
TCTTCAAGAAATATTCAACAAATGTTGGCAGATTCAATCAATCGTATGAAGGCATATGCATTTCACCAGAAGAAAGAATCTATGAAGAAAAAACAAGATGAAGAA
ATAAATCAAATAGAAGAAGAGAGAACGAAGCAGATTTGTAAGAGCTGGAAAGAAGACTCGGAATGGCAGGCATCTCTGCGAAAATCCAAAGCAGCTGATGAGAAG
AGACGCTCCTTGGCTAAACAAGCACGAGAAGACTACAAGAGGTTATCCCTCGGGGCCCAGAAAGGAAGAGGCGGTGAGAGGCTGCAAAGCCCCTTGCGTGTTCCG
CAGAAACCAGAAAGACCTCCCCTTCCACCCAAGCCTCAGTTCCTAAACTCAGGGGCATATCCTCAAAAACCTCTTAGAAATCAGGGAGTGGTGAGGACACTGTCC
AGCTCTGCCCAAGAGGACATCATCCGGTGGTTTAAAGAGGAGCAGCTACCACTTCGAGCGGGCTACCAGAAAACCTCAGACACCATAGCCCCCTGGTTCCATGGA
ATTCTCACACTCAAGAAAGCAAATGAACTTCTTCTGAGCACAGGCATGCCCGGCAGTTTTCTCATCCGAGTCAGTGAAAGGATCAAAGGCTATGCCCTGTCCTAT
Show »
>SH2D4A|63898|protein
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWVMGEHHLDKPYDVLCNEIIAERARLK
AEQEAEEPRKTHSEEFTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSRPAPTLEEEKIRSLSSSSRNIQQMLADSINRMKAYAFHQKKESMKKKQDEE
INQIEEERTKQICKSWKEDSEWQASLRKSKAADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLS
SSAQEDIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASADAYSFLGVDQLQHATLADLV
EYHKEEPITSLGKELLLYPCGQQDQLPDYLELFE
Show »
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWVMGEHHLDKPYDVLCNEIIAERARLK
AEQEAEEPRKTHSEEFTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSRPAPTLEEEKIRSLSSSSRNIQQMLADSINRMKAYAFHQKKESMKKKQDEE
INQIEEERTKQICKSWKEDSEWQASLRKSKAADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLS
SSAQEDIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASADAYSFLGVDQLQHATLADLV
EYHKEEPITSLGKELLLYPCGQQDQLPDYLELFE
Show »
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 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
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 | ||||||
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Ozgen, 2009 | - | aCGH, SNP microarray | | | ASD | 55 | - | - | - | - | - | - |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top