Evidence Details for JPH4
Basic Information Top
| Gene Symbol: | JPH4 ( FLJ34253,JP4,JPHL1,KIAA1831 ) |
|---|---|
| Gene Full Name: | junctophilin 4 |
| Band: | 14q11.2 |
| Quick Links | Entrez ID:84502; OMIM: NA; Uniprot ID:JPH4_HUMAN; ENSEMBL ID: ENSG00000092051; HGNC ID: 20156 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>JPH4|84502|nucleotide
ATGTCCCCCGGGGGCAAGTTCGACTTTGACGACGGGGGCTGCTACGTGGGGGGCTGGGAGGCGGGGCGGGCACATGGCTACGGCGTGTGCACGGGCCCCGGCGCC
CAGGGCGAGTACAGCGGCTGCTGGGCACACGGCTTCGAGTCACTGGGCGTCTTCACGGGGCCCGGCGGACACAGCTACCAGGGCCACTGGCAGCAGGGCAAGCGC
GAAGGGCTGGGCGTGGAGCGCAAGAGCCGCTGGACGTACCGCGGCGAGTGGCTGGGCGGGCTGAAGGGGCGCAGCGGCGTGTGGGAAAGCGTGTCCGGCCTGCGC
TACGCCGGGCTCTGGAAGGACGGTTTCCAGGACGGCTACGGCACTGAGACCTACTCCGACGGAGGCACCTACCAGGGCCAGTGGCAGGCCGGGAAGCGCCACGGC
TACGGGGTACGCCAGAGTGTGCCCTACCATCAGGCGGCGCTGCTGCGCTCGCCCCGCCGCACCTCCCTGGATTCCGGCCACAGCGACCCCCCGACGCCACCCCCG
CCCCTGCCCTTGCCGGGCGACGAGGGAGGCAGCCCCGCCTCGGGCTCCCGGGGCGGCTTCGTGCTGGCCGGGCCCGGGGACGCCGACGGCGCGTCGTCCCGAAAG
CGCACTCCGGCGGCCGGCGGATTCTTTCGCCGTTCGCTGCTGCTCAGCGGGCTCCGAGCGGGCGGACGTCGCAGCTCCCTGGGCAGCAAGCGAGGCTCCCTGCGC
AGCGAGGTGAGCAGCGAGGTGGGCAGCACCGGACCGCCCGGCTCGGAGGCCAGCGGGCCCCCGGCCGCAGCGCCGCCCGCCCTCATCGAGGGCTCGGCCACAGAG
GTGTACGCGGGCGAGTGGCGCGCAGATCGGCGCAGCGGCTTCGGCGTCAGCCAGCGCTCCAACGGGCTGCGCTACGAGGGCGAGTGGCTGGGCAACCGGCGGCAC
GGCTACGGGCGCACCACCCGCCCCGACGGCTCCCGCGAGGAGGGCAAGTACAAGCGCAACCGGCTGGTGCACGGCGGGCGCGTCCGCAGTCTCCTGCCTCTGGCC
CTTCGGCGGGGCAAGGTTAAGGAGAAGGTGGACAGGGCTGTCGAGGGCGCCCGTCGAGCCGTGAGTGCTGCCCGTCAGCGCCAGGAGATCGCCGCTGCCAGGGCA
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ATGTCCCCCGGGGGCAAGTTCGACTTTGACGACGGGGGCTGCTACGTGGGGGGCTGGGAGGCGGGGCGGGCACATGGCTACGGCGTGTGCACGGGCCCCGGCGCC
CAGGGCGAGTACAGCGGCTGCTGGGCACACGGCTTCGAGTCACTGGGCGTCTTCACGGGGCCCGGCGGACACAGCTACCAGGGCCACTGGCAGCAGGGCAAGCGC
GAAGGGCTGGGCGTGGAGCGCAAGAGCCGCTGGACGTACCGCGGCGAGTGGCTGGGCGGGCTGAAGGGGCGCAGCGGCGTGTGGGAAAGCGTGTCCGGCCTGCGC
TACGCCGGGCTCTGGAAGGACGGTTTCCAGGACGGCTACGGCACTGAGACCTACTCCGACGGAGGCACCTACCAGGGCCAGTGGCAGGCCGGGAAGCGCCACGGC
TACGGGGTACGCCAGAGTGTGCCCTACCATCAGGCGGCGCTGCTGCGCTCGCCCCGCCGCACCTCCCTGGATTCCGGCCACAGCGACCCCCCGACGCCACCCCCG
CCCCTGCCCTTGCCGGGCGACGAGGGAGGCAGCCCCGCCTCGGGCTCCCGGGGCGGCTTCGTGCTGGCCGGGCCCGGGGACGCCGACGGCGCGTCGTCCCGAAAG
CGCACTCCGGCGGCCGGCGGATTCTTTCGCCGTTCGCTGCTGCTCAGCGGGCTCCGAGCGGGCGGACGTCGCAGCTCCCTGGGCAGCAAGCGAGGCTCCCTGCGC
AGCGAGGTGAGCAGCGAGGTGGGCAGCACCGGACCGCCCGGCTCGGAGGCCAGCGGGCCCCCGGCCGCAGCGCCGCCCGCCCTCATCGAGGGCTCGGCCACAGAG
GTGTACGCGGGCGAGTGGCGCGCAGATCGGCGCAGCGGCTTCGGCGTCAGCCAGCGCTCCAACGGGCTGCGCTACGAGGGCGAGTGGCTGGGCAACCGGCGGCAC
GGCTACGGGCGCACCACCCGCCCCGACGGCTCCCGCGAGGAGGGCAAGTACAAGCGCAACCGGCTGGTGCACGGCGGGCGCGTCCGCAGTCTCCTGCCTCTGGCC
CTTCGGCGGGGCAAGGTTAAGGAGAAGGTGGACAGGGCTGTCGAGGGCGCCCGTCGAGCCGTGAGTGCTGCCCGTCAGCGCCAGGAGATCGCCGCTGCCAGGGCA
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>JPH4|84502|protein
MSPGGKFDFDDGGCYVGGWEAGRAHGYGVCTGPGAQGEYSGCWAHGFESLGVFTGPGGHSYQGHWQQGKREGLGVERKSRWTYRGEWLGGLKGRSGVWESVSGLR
YAGLWKDGFQDGYGTETYSDGGTYQGQWQAGKRHGYGVRQSVPYHQAALLRSPRRTSLDSGHSDPPTPPPPLPLPGDEGGSPASGSRGGFVLAGPGDADGASSRK
RTPAAGGFFRRSLLLSGLRAGGRRSSLGSKRGSLRSEVSSEVGSTGPPGSEASGPPAAAPPALIEGSATEVYAGEWRADRRSGFGVSQRSNGLRYEGEWLGNRRH
GYGRTTRPDGSREEGKYKRNRLVHGGRVRSLLPLALRRGKVKEKVDRAVEGARRAVSAARQRQEIAAARAADALLKAVAASSVAEKAVEAARMAKLIAQDLQPML
EAPGRRPRQDSEGSDTEPLDEDSPGVYENGLTPSEGSPELPSSPASSRQPWRPPACRSPLPPGGDQGPFSSPKAWPEEWGGAGAQAEELAGYEAEDEAGMQGPGP
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MSPGGKFDFDDGGCYVGGWEAGRAHGYGVCTGPGAQGEYSGCWAHGFESLGVFTGPGGHSYQGHWQQGKREGLGVERKSRWTYRGEWLGGLKGRSGVWESVSGLR
YAGLWKDGFQDGYGTETYSDGGTYQGQWQAGKRHGYGVRQSVPYHQAALLRSPRRTSLDSGHSDPPTPPPPLPLPGDEGGSPASGSRGGFVLAGPGDADGASSRK
RTPAAGGFFRRSLLLSGLRAGGRRSSLGSKRGSLRSEVSSEVGSTGPPGSEASGPPAAAPPALIEGSATEVYAGEWRADRRSGFGVSQRSNGLRYEGEWLGNRRH
GYGRTTRPDGSREEGKYKRNRLVHGGRVRSLLPLALRRGKVKEKVDRAVEGARRAVSAARQRQEIAAARAADALLKAVAASSVAEKAVEAARMAKLIAQDLQPML
EAPGRRPRQDSEGSDTEPLDEDSPGVYENGLTPSEGSPELPSSPASSRQPWRPPACRSPLPPGGDQGPFSSPKAWPEEWGGAGAQAEELAGYEAEDEAGMQGPGP
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) | | | AS | - (3-21) |
- >70 | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top