Evidence Details for PKDREJ
Basic Information Top
| Gene Symbol: | PKDREJ ( - ) |
|---|---|
| Gene Full Name: | polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:10343; OMIM: 604670; Uniprot ID:PKDRE_HUMAN; ENSEMBL ID: ENSG00000130943; HGNC ID: 9015 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PKDREJ|10343|nucleotide
ATGAGGCCTGGGCCCGCTCTCCTCCTTCTGGGCGTGGGCCTGAGCCTGAGCGTCGGCCGCCTCCCGCTGCCGCCGGTTCCTCGCGGGGCACAAGCCGCCGTCTCC
GGGGCGCCCGGTGGCCTCCTCAGGGGCGCCCCGGGCCTCGGGGTGCGCGGCGGCCGCGCCCTCCTCAGTCTGCGGCCCAGCGCGGTGCGGGCGGGCGGCGCTGTC
CTGAGCGGCCGCGGCAGCCTCTGCTTCCCCCATGGCGGGACCGGGCGGCGCTGGTACTGCCTCGACTTGCGCGTCCTGCTCAGCGCCCAACGCCTGCCCTGGCCG
GCCGCGCCCGCGCTCGCGCTCGTCGACCTGCAGCTCTCCGCGCGCGGCGGCCGCCTCTCCCTGACGTGGTCCGTGCGGCTGCCGCGCTCGCCCGGGCGCCTGGCC
TGGGCCTTCCGCCTGCGGCTGCTCGGACCCGGCGCCGCCCGCCCGGCCTCCCCCGCGGCCCGCGTCTCCCCGCGCTCCGCCGCGCCAGGCCCGCGGCCCCAGCAG
GGCTTCGTGGCCCGCACCGAGTGCCCCACAGACGGCCCCGCGCGCGTGATGTTGCAGGCCGTCAACTCGTCCAGCCACAGAGCCGTCGAGTCGTCCGTGTCCTGT
CAGATAAACGCCTGCGTCATCCAGCGCGTGAGGATCAACACGGACCAGAAGGGCGCCCCCGTGCGCCTGAGCATGCAGGCGGAGGCCACCATCAACGCCTCGGTG
CAGCTGGACTGCCCGGCCGCGCGCGCCATCGCCCAGTACTGGCAGGTGTTCTCCGTGCCCGCCGTGGGTCAGGCGCCCGACTGGACGCAGCCCTTGGATCTGCCC
CAGCTCGAGATCAGGAACAGCCCCTTGTTCATTCACATCCCCAATAATTCGTTACAGTGGGGAGTGTATGTGTTTAATTTCACGGTGTCCATCACCACAGGGAAC
CCCAAGATGCCCGAGGTGAAAGACTCGGACGCCGTCTATGTCTGGATCGTCAGGAGTTCCCTGCAGGCGGTGATGCTTGGCGATGCCAACATAACAGCTAATTTC
ACAGAGCAGCTGATTCTGGACGGGTCCACGTCCTCGGACCCAGATGCGGACAGCCCGTTACAGGGACTCCAGTTCTTTTGGTACTGTACCACAGATCCCAGAAAC
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ATGAGGCCTGGGCCCGCTCTCCTCCTTCTGGGCGTGGGCCTGAGCCTGAGCGTCGGCCGCCTCCCGCTGCCGCCGGTTCCTCGCGGGGCACAAGCCGCCGTCTCC
GGGGCGCCCGGTGGCCTCCTCAGGGGCGCCCCGGGCCTCGGGGTGCGCGGCGGCCGCGCCCTCCTCAGTCTGCGGCCCAGCGCGGTGCGGGCGGGCGGCGCTGTC
CTGAGCGGCCGCGGCAGCCTCTGCTTCCCCCATGGCGGGACCGGGCGGCGCTGGTACTGCCTCGACTTGCGCGTCCTGCTCAGCGCCCAACGCCTGCCCTGGCCG
GCCGCGCCCGCGCTCGCGCTCGTCGACCTGCAGCTCTCCGCGCGCGGCGGCCGCCTCTCCCTGACGTGGTCCGTGCGGCTGCCGCGCTCGCCCGGGCGCCTGGCC
TGGGCCTTCCGCCTGCGGCTGCTCGGACCCGGCGCCGCCCGCCCGGCCTCCCCCGCGGCCCGCGTCTCCCCGCGCTCCGCCGCGCCAGGCCCGCGGCCCCAGCAG
GGCTTCGTGGCCCGCACCGAGTGCCCCACAGACGGCCCCGCGCGCGTGATGTTGCAGGCCGTCAACTCGTCCAGCCACAGAGCCGTCGAGTCGTCCGTGTCCTGT
CAGATAAACGCCTGCGTCATCCAGCGCGTGAGGATCAACACGGACCAGAAGGGCGCCCCCGTGCGCCTGAGCATGCAGGCGGAGGCCACCATCAACGCCTCGGTG
CAGCTGGACTGCCCGGCCGCGCGCGCCATCGCCCAGTACTGGCAGGTGTTCTCCGTGCCCGCCGTGGGTCAGGCGCCCGACTGGACGCAGCCCTTGGATCTGCCC
CAGCTCGAGATCAGGAACAGCCCCTTGTTCATTCACATCCCCAATAATTCGTTACAGTGGGGAGTGTATGTGTTTAATTTCACGGTGTCCATCACCACAGGGAAC
CCCAAGATGCCCGAGGTGAAAGACTCGGACGCCGTCTATGTCTGGATCGTCAGGAGTTCCCTGCAGGCGGTGATGCTTGGCGATGCCAACATAACAGCTAATTTC
ACAGAGCAGCTGATTCTGGACGGGTCCACGTCCTCGGACCCAGATGCGGACAGCCCGTTACAGGGACTCCAGTTCTTTTGGTACTGTACCACAGATCCCAGAAAC
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>PKDREJ|10343|protein
MRPGPALLLLGVGLSLSVGRLPLPPVPRGAQAAVSGAPGGLLRGAPGLGVRGGRALLSLRPSAVRAGGAVLSGRGSLCFPHGGTGRRWYCLDLRVLLSAQRLPWP
AAPALALVDLQLSARGGRLSLTWSVRLPRSPGRLAWAFRLRLLGPGAARPASPAARVSPRSAAPGPRPQQGFVARTECPTDGPARVMLQAVNSSSHRAVESSVSC
QINACVIQRVRINTDQKGAPVRLSMQAEATINASVQLDCPAARAIAQYWQVFSVPAVGQAPDWTQPLDLPQLEIRNSPLFIHIPNNSLQWGVYVFNFTVSITTGN
PKMPEVKDSDAVYVWIVRSSLQAVMLGDANITANFTEQLILDGSTSSDPDADSPLQGLQFFWYCTTDPRNYGGDRIILGSKEVCHPEQANLKWPWASGPVLTLLP
ETLKGDHVYFFRMVIRKDSRTAFSDKRVHVLQGPKAIAHITCIENCERNFIVSDRFSLFLNCTNCASRDFYKWSILSSSGGEMLFDWMGETVTGRNGAYLSIKAF
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MRPGPALLLLGVGLSLSVGRLPLPPVPRGAQAAVSGAPGGLLRGAPGLGVRGGRALLSLRPSAVRAGGAVLSGRGSLCFPHGGTGRRWYCLDLRVLLSAQRLPWP
AAPALALVDLQLSARGGRLSLTWSVRLPRSPGRLAWAFRLRLLGPGAARPASPAARVSPRSAAPGPRPQQGFVARTECPTDGPARVMLQAVNSSSHRAVESSVSC
QINACVIQRVRINTDQKGAPVRLSMQAEATINASVQLDCPAARAIAQYWQVFSVPAVGQAPDWTQPLDLPQLEIRNSPLFIHIPNNSLQWGVYVFNFTVSITTGN
PKMPEVKDSDAVYVWIVRSSLQAVMLGDANITANFTEQLILDGSTSSDPDADSPLQGLQFFWYCTTDPRNYGGDRIILGSKEVCHPEQANLKWPWASGPVLTLLP
ETLKGDHVYFFRMVIRKDSRTAFSDKRVHVLQGPKAIAHITCIENCERNFIVSDRFSLFLNCTNCASRDFYKWSILSSSGGEMLFDWMGETVTGRNGAYLSIKAF
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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 (5) | 0 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 22 (7) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Gregory, 2009 | USA | aCGH |  | | ASD | - | - | - | - | 119 | 54 | 173 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.