Evidence Details for PTPRJ
Basic Information Top
Gene Symbol: | PTPRJ ( CD148,DEP1,HPTPeta,R-PTP-ETA,SCC1 ) |
---|---|
Gene Full Name: | protein tyrosine phosphatase, receptor type, J |
Band: | 11p11.2 |
Quick Links | Entrez ID:5795; OMIM: 600925; Uniprot ID:PTPRJ_HUMAN; ENSEMBL ID: ENSG00000149177; HGNC ID: 9673 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PTPRJ|5795|nucleotide
ATGAAGCCGGCGGCGCGGGAGGCGCGGCTGCCTCCGCGCTCGCCCGGGCTGCGCTGGGCGCTGCCGCTGCTGCTGCTGCTGCTGCGCCTGGGCCAGATCCTGTGC
GCAGGTGGCACCCCTAGTCCAATTCCTGACCCTTCAGTAGCAACTGTTGCCACAGGGGAAAATGGCATAACGCAGATCAGCAGTACAGCAGAATCCTTTCATAAA
CAGAATGGAACTGGAACACCTCAGGTGGAAACAAACACCAGTGAGGATGGTGAAAGCTCTGGAGCCAACGATAGTTTAAGAACACCTGAACAAGGATCTAATGGG
ACTGATGGGGCATCTCAAAAAACTCCCAGTAGCACTGGGCCCAGTCCTGTGTTTGACATTAAAGCTGTTTCCATCAGTCCAACCAATGTGATCTTAACTTGGAAA
AGTAATGACACAGCTGCTTCTGAGTACAAGTATGTAGTAAAGCATAAGATGGAAAATGAGAAGACAATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGC
TTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCAATGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGAGCCGATCCCAGTT
TCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGC
CATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACAATCAAATAAGACA
AAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGA
CCTGTGGACCCATCCTCCGGCCAGCAGTCCCGAGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCG
AATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAATGCTATTCAGGTTTTTGACGTCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATC
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ATGAAGCCGGCGGCGCGGGAGGCGCGGCTGCCTCCGCGCTCGCCCGGGCTGCGCTGGGCGCTGCCGCTGCTGCTGCTGCTGCTGCGCCTGGGCCAGATCCTGTGC
GCAGGTGGCACCCCTAGTCCAATTCCTGACCCTTCAGTAGCAACTGTTGCCACAGGGGAAAATGGCATAACGCAGATCAGCAGTACAGCAGAATCCTTTCATAAA
CAGAATGGAACTGGAACACCTCAGGTGGAAACAAACACCAGTGAGGATGGTGAAAGCTCTGGAGCCAACGATAGTTTAAGAACACCTGAACAAGGATCTAATGGG
ACTGATGGGGCATCTCAAAAAACTCCCAGTAGCACTGGGCCCAGTCCTGTGTTTGACATTAAAGCTGTTTCCATCAGTCCAACCAATGTGATCTTAACTTGGAAA
AGTAATGACACAGCTGCTTCTGAGTACAAGTATGTAGTAAAGCATAAGATGGAAAATGAGAAGACAATTACTGTTGTGCATCAACCATGGTGTAACATCACAGGC
TTACGTCCAGCGACTTCATATGTATTCTCCATCACTCCAGGAATAGGCAATGAGACTTGGGGAGATCCCAGAGTCATAAAAGTCATCACAGAGCCGATCCCAGTT
TCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGC
CATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACAATCAAATAAGACA
AAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGA
CCTGTGGACCCATCCTCCGGCCAGCAGTCCCGAGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCG
AATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAATGCTATTCAGGTTTTTGACGTCACCGCTGTGAACATCAGTGCCACAAGCCTGACCCTGATC
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>PTPRJ|5795|protein
MKPAAREARLPPRSPGLRWALPLLLLLLRLGQILCAGGTPSPIPDPSVATVATGENGITQISSTAESFHKQNGTGTPQVETNTSEDGESSGANDSLRTPEQGSNG
TDGASQKTPSSTGPSPVFDIKAVSISPTNVILTWKSNDTAASEYKYVVKHKMENEKTITVVHQPWCNITGLRPATSYVFSITPGIGNETWGDPRVIKVITEPIPV
SDLRVALTGVRKAALSWSNGNGTASCRVLLESIGSHEELTQDSRLQVNISGLKPGVQYNINPYLLQSNKTKGDPLGTEGGLDASNTERSRAGSPTAPVHDESLVG
PVDPSSGQQSRDTEVLLVGLEPGTRYNATVYSQAANGTEGQPQAIEFRTNAIQVFDVTAVNISATSLTLIWKVSDNESSSNYTYKIHVAGETDSSNLNVSEPRAV
IPGLRSSTFYNITVCPVLGDIEGTPGFLQVHTPPVPVSDFRVTVVSTTEIGLAWSSHDAESFQMHITQEGAGNSRVEITTNQSIIIGGLFPGTKYCFEIVPKGPN
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MKPAAREARLPPRSPGLRWALPLLLLLLRLGQILCAGGTPSPIPDPSVATVATGENGITQISSTAESFHKQNGTGTPQVETNTSEDGESSGANDSLRTPEQGSNG
TDGASQKTPSSTGPSPVFDIKAVSISPTNVILTWKSNDTAASEYKYVVKHKMENEKTITVVHQPWCNITGLRPATSYVFSITPGIGNETWGDPRVIKVITEPIPV
SDLRVALTGVRKAALSWSNGNGTASCRVLLESIGSHEELTQDSRLQVNISGLKPGVQYNINPYLLQSNKTKGDPLGTEGGLDASNTERSRAGSPTAPVHDESLVG
PVDPSSGQQSRDTEVLLVGLEPGTRYNATVYSQAANGTEGQPQAIEFRTNAIQVFDVTAVNISATSLTLIWKVSDNESSSNYTYKIHVAGETDSSNLNVSEPRAV
IPGLRSSTFYNITVCPVLGDIEGTPGFLQVHTPPVPVSDFRVTVVSTTEIGLAWSSHDAESFQMHITQEGAGNSRVEITTNQSIIIGGLFPGTKYCFEIVPKGPN
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Evidence summary Top
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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) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Yonan, 2003 | USA | microsatellite-based genomic screen | PDD | 345 | - | 345 | - | - | - | - | ||
Spence, 2006 | USA | microsatellite-based genomic screen | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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