Evidence Details for JPH3
Basic Information Top
| Gene Symbol: | JPH3 ( CAGL237,FLJ44707,HDL2,JP-3,JP3,TNRC22 ) |
|---|---|
| Gene Full Name: | junctophilin 3 |
| Band: | 16q24.2 |
| Quick Links | Entrez ID:57338; OMIM: 605268; Uniprot ID:JPH3_HUMAN; ENSEMBL ID: ENSG00000154118; HGNC ID: 14203 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>JPH3|57338|nucleotide
ATGTCCAGTGGGGGCAGGTTTAATTTTGACGACGGAGGGTCCTACTGTGGAGGCTGGGAGGACGGCAAGGCGCACGGCCATGGCGTCTGCACCGGCCCCAAGGGC
CAAGGCGAATACACCGGCTCGTGGAGCCACGGCTTCGAGGTGCTGGGCGTCTACACCTGGCCCAGCGGCAACACGTACCAGGGCACCTGGGCGCAGGGCAAGCGC
CACGGCATCGGCCTGGAGAGCAAGGGGAAGTGGGTGTACAAGGGCGAGTGGACGCACGGATTCAAGGGGCGCTACGGGGTGCGGGAGTGCGCGGGCAACGGGGCC
AAATACGAAGGGACCTGGAGCAACGGGCTGCAGGACGGCTACGGGACCGAGACCTACTCGGACGGAGGGACCTACCAGGGCCAGTGGGTCGGTGGCATGCGCCAG
GGCTACGGCGTCCGGCAGAGCGTCCCGTATGGCATGGCCGCGGTCATCCGCTCACCCCTGAGGACGTCCATCAACTCCCTGCGCAGCGAGCACACCAACGGCACG
GCGCTGCATCCCGACGCCTCTCCGGCGGTGGCCGGCAGCCCGGCCGTGTCCCGCGGGGGCTTCGTGCTCGTGGCCCACAGTGACTCCGAGATCCTCAAGAGCAAG
AAGAAGGGGCTGTTTCGGCGCTCGCTGCTGAGTGGGCTGAAGCTGCGCAAGTCGGAGTCCAAGAGCAGCCTGGCCAGCCAACGCAGCAAGCAGAGCTCCTTTCGC
AGCGAGGCGGGCATGAGCACCGTCAGCTCCACGGCCAGCGACATCCACTCCACCATCAGCCTGGGCGAGGCTGAGGCCGAGCTGGCGGTCATCGAGGACGACATC
GACGCCACCACCACCGAGACCTACGTGGGCGAGTGGAAGAACGACAAACGCTCCGGCTTCGGCGTGAGCCAGCGCTCGGACGGGCTCAAGTACGAGGGCGAGTGG
GCCAGCAACCGGCGCCATGGCTACGGCTGCATGACCTTCCCGGACGGCACCAAGGAGGAGGGCAAGTACAAGCAGAACATCCTCGTCGGCGGCAAGCGCAAGAAC
CTCATCCCCCTGCGGGCCAGCAAGATCCGCGAGAAGGTGGACCGCGCCGTTGAGGCCGCTGAGCGGGCCGCCACCATCGCCAAGCAGAAGGCTGAGATCGCGGCT
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ATGTCCAGTGGGGGCAGGTTTAATTTTGACGACGGAGGGTCCTACTGTGGAGGCTGGGAGGACGGCAAGGCGCACGGCCATGGCGTCTGCACCGGCCCCAAGGGC
CAAGGCGAATACACCGGCTCGTGGAGCCACGGCTTCGAGGTGCTGGGCGTCTACACCTGGCCCAGCGGCAACACGTACCAGGGCACCTGGGCGCAGGGCAAGCGC
CACGGCATCGGCCTGGAGAGCAAGGGGAAGTGGGTGTACAAGGGCGAGTGGACGCACGGATTCAAGGGGCGCTACGGGGTGCGGGAGTGCGCGGGCAACGGGGCC
AAATACGAAGGGACCTGGAGCAACGGGCTGCAGGACGGCTACGGGACCGAGACCTACTCGGACGGAGGGACCTACCAGGGCCAGTGGGTCGGTGGCATGCGCCAG
GGCTACGGCGTCCGGCAGAGCGTCCCGTATGGCATGGCCGCGGTCATCCGCTCACCCCTGAGGACGTCCATCAACTCCCTGCGCAGCGAGCACACCAACGGCACG
GCGCTGCATCCCGACGCCTCTCCGGCGGTGGCCGGCAGCCCGGCCGTGTCCCGCGGGGGCTTCGTGCTCGTGGCCCACAGTGACTCCGAGATCCTCAAGAGCAAG
AAGAAGGGGCTGTTTCGGCGCTCGCTGCTGAGTGGGCTGAAGCTGCGCAAGTCGGAGTCCAAGAGCAGCCTGGCCAGCCAACGCAGCAAGCAGAGCTCCTTTCGC
AGCGAGGCGGGCATGAGCACCGTCAGCTCCACGGCCAGCGACATCCACTCCACCATCAGCCTGGGCGAGGCTGAGGCCGAGCTGGCGGTCATCGAGGACGACATC
GACGCCACCACCACCGAGACCTACGTGGGCGAGTGGAAGAACGACAAACGCTCCGGCTTCGGCGTGAGCCAGCGCTCGGACGGGCTCAAGTACGAGGGCGAGTGG
GCCAGCAACCGGCGCCATGGCTACGGCTGCATGACCTTCCCGGACGGCACCAAGGAGGAGGGCAAGTACAAGCAGAACATCCTCGTCGGCGGCAAGCGCAAGAAC
CTCATCCCCCTGCGGGCCAGCAAGATCCGCGAGAAGGTGGACCGCGCCGTTGAGGCCGCTGAGCGGGCCGCCACCATCGCCAAGCAGAAGGCTGAGATCGCGGCT
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>JPH3|57338|protein
MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNTYQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGA
KYEGTWSNGLQDGYGTETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPDASPAVAGSPAVSRGGFVLVAHSDSEILKSK
KKGLFRRSLLSGLKLRKSESKSSLASQRSKQSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGFGVSQRSDGLKYEGEW
ASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIREKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSFPTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGD
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MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNTYQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGA
KYEGTWSNGLQDGYGTETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPDASPAVAGSPAVSRGGFVLVAHSDSEILKSK
KKGLFRRSLLSGLKLRKSESKSSLASQRSKQSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGFGVSQRSDGLKYEGEW
ASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIREKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSFPTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGD
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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 | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Liu X, 2016_2 | replication | TaqMan | 1409 (-) |  |  | ASD | - - |
- | 184 (-) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Willemsen, 2010 | - | SNP microarray | | | ASD | 3 | - | - | - | - | - | - |
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.