Evidence Details for SIRPB2


Gene Symbol: | SIRPB2 ( PTPN1L,PTPNS1L3,dJ776F14.2 ) |
---|---|
Gene Full Name: | signal-regulatory protein beta 2 |
Band: | 20p13 |
Quick Links | Entrez ID:284759; OMIM: NA; Uniprot ID:SIRB2_HUMAN; ENSEMBL ID: ENSG00000196209; HGNC ID: 16247 |
Relate to Another Database: | SFARIGene; denovo-db |


>SIRPB2|284759|nucleotide
ATGTGCTCCACGATGTCGGCCCCCACCTGCCTGGCCCACTTGCCTCCCTGCTTCCTGCTGCTGGCACTGGTCCTTGTCCCCTCAGATGCCTCTGGGCAGAGCAGC
AGGAATGACTGGCAGGTGCTACAGCCCGAGGGCCCCATGCTGGTGGCAGAAGGTGAGACACTTCTACTGAGGTGTATGGTGGTCGGCTCCTGCACTGATGGTATG
ATAAAATGGGTGAAGGTGAGCACTCAGGACCAACAGGAAATTTATAACTTTAAACGTGGCTCCTTCCCTGGGGTAATGCCCATGATCCAACGGACATCAGAACCA
CTGAATTGTGATTATTCCATCTATATCCACAATGTCACCAGGGAGCACACTGGAACCTACCACTGTGTGAGGTTTGATGGTTTGAGTGAACACTCAGAAATGAAA
TCGGATGAAGGCACCTCAGTGCTTGTGAAGGGAGCTGGGGACCCTGAACCAGACCTGTGGATCATCCAGCCCCAGGAATTGGTGTTGGGGACCACTGGAGACACT
GTCTTTCTGAACTGCACAGTGCTTGGAGACGGTCCCCCTGGACCCATCAGGTGGTTCCAGGGAGCTGGTCTGAGCCGGGAGGCCATTTACAACTTTGGAGGCATC
TCCCACCCCAAGGAGACAGCGGTGCAGGCCTCCAACAATGACTTCAGCATTCTTCTGCAAAACGTCTCCAGTGAGGATGCAGGCACCTATTACTGTGTAAAGTTT
CAGAGGAAACCCAACAGGCAATACCTGTCTGGACAGGGCACCAGCCTGAAAGTGAAAGCAAAATCTACCTCTTCCAAAGAGGCAGAATTCACCAGTGAACCTGCA
ACTGAGATGTCTCCAACAGGCCTCCTGGTTGTGTTCGCACCTGTGGTCCTGGGGCTGAAGGCAATTACCTTGGCTGCACTCCTACTGGCCCTGGCTACCTCTCGG
AGGAGCCCTGGGCAAGAAGATGTCAAGACCACAGGCCCAGCAGGAGCCATGAACACCTTAGCATGGAGCAAGGGTCAAGAGTGA
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ATGTGCTCCACGATGTCGGCCCCCACCTGCCTGGCCCACTTGCCTCCCTGCTTCCTGCTGCTGGCACTGGTCCTTGTCCCCTCAGATGCCTCTGGGCAGAGCAGC
AGGAATGACTGGCAGGTGCTACAGCCCGAGGGCCCCATGCTGGTGGCAGAAGGTGAGACACTTCTACTGAGGTGTATGGTGGTCGGCTCCTGCACTGATGGTATG
ATAAAATGGGTGAAGGTGAGCACTCAGGACCAACAGGAAATTTATAACTTTAAACGTGGCTCCTTCCCTGGGGTAATGCCCATGATCCAACGGACATCAGAACCA
CTGAATTGTGATTATTCCATCTATATCCACAATGTCACCAGGGAGCACACTGGAACCTACCACTGTGTGAGGTTTGATGGTTTGAGTGAACACTCAGAAATGAAA
TCGGATGAAGGCACCTCAGTGCTTGTGAAGGGAGCTGGGGACCCTGAACCAGACCTGTGGATCATCCAGCCCCAGGAATTGGTGTTGGGGACCACTGGAGACACT
GTCTTTCTGAACTGCACAGTGCTTGGAGACGGTCCCCCTGGACCCATCAGGTGGTTCCAGGGAGCTGGTCTGAGCCGGGAGGCCATTTACAACTTTGGAGGCATC
TCCCACCCCAAGGAGACAGCGGTGCAGGCCTCCAACAATGACTTCAGCATTCTTCTGCAAAACGTCTCCAGTGAGGATGCAGGCACCTATTACTGTGTAAAGTTT
CAGAGGAAACCCAACAGGCAATACCTGTCTGGACAGGGCACCAGCCTGAAAGTGAAAGCAAAATCTACCTCTTCCAAAGAGGCAGAATTCACCAGTGAACCTGCA
ACTGAGATGTCTCCAACAGGCCTCCTGGTTGTGTTCGCACCTGTGGTCCTGGGGCTGAAGGCAATTACCTTGGCTGCACTCCTACTGGCCCTGGCTACCTCTCGG
AGGAGCCCTGGGCAAGAAGATGTCAAGACCACAGGCCCAGCAGGAGCCATGAACACCTTAGCATGGAGCAAGGGTCAAGAGTGA
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>SIRPB2|284759|protein
MCSTMSAPTCLAHLPPCFLLLALVLVPSDASGQSSRNDWQVLQPEGPMLVAEGETLLLRCMVVGSCTDGMIKWVKVSTQDQQEIYNFKRGSFPGVMPMIQRTSEP
LNCDYSIYIHNVTREHTGTYHCVRFDGLSEHSEMKSDEGTSVLVKGAGDPEPDLWIIQPQELVLGTTGDTVFLNCTVLGDGPPGPIRWFQGAGLSREAIYNFGGI
SHPKETAVQASNNDFSILLQNVSSEDAGTYYCVKFQRKPNRQYLSGQGTSLKVKAKSTSSKEAEFTSEPATEMSPTGLLVVFAPVVLGLKAITLAALLLALATSR
RSPGQEDVKTTGPAGAMNTLAWSKGQE
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MCSTMSAPTCLAHLPPCFLLLALVLVPSDASGQSSRNDWQVLQPEGPMLVAEGETLLLRCMVVGSCTDGMIKWVKVSTQDQQEIYNFKRGSFPGVMPMIQRTSEP
LNCDYSIYIHNVTREHTGTYHCVRFDGLSEHSEMKSDEGTSVLVKGAGDPEPDLWIIQPQELVLGTTGDTVFLNCTVLGDGPPGPIRWFQGAGLSREAIYNFGGI
SHPKETAVQASNNDFSILLQNVSSEDAGTYYCVKFQRKPNRQYLSGQGTSLKVKAKSTSSKEAEFTSEPATEMSPTGLLVVFAPVVLGLKAITLAALLLALATSR
RSPGQEDVKTTGPAGAMNTLAWSKGQE
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |














Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |






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