Evidence Details for TRAPPC9
Basic Information Top
| Gene Symbol: | TRAPPC9 ( IBP,IKBKBBP,KIAA1882,MGC4737,MGC4769,MRT13,NIBP,TRS120 ) |
|---|---|
| Gene Full Name: | trafficking protein particle complex 9 |
| Band: | 8q24.3 |
| Quick Links | Entrez ID:83696; OMIM: 611966; Uniprot ID:TPPC9_HUMAN; ENSEMBL ID: ENSG00000167632; HGNC ID: 30832 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TRAPPC9|83696|nucleotide
ATGAGCGTCCCTGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCGTCTCCGAGGAGAACTTCTTCAGGATCTAT
AAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCGGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGGGGTGAC
TTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCAAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATC
TACGGCTCCACACTGTATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTGGCTTTCTACCCCAACTACGAGGAC
TGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGTCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGATC
CCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACATTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGG
GACCTGTGCCTGCAGGCAGGGATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTTTCTGTGGCTTGGAGCTGCC
CTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGTGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCA
GCCAATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAG
AACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAG
GCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATT
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ATGAGCGTCCCTGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCGTCTCCGAGGAGAACTTCTTCAGGATCTAT
AAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCGGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGGGGTGAC
TTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCAAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATC
TACGGCTCCACACTGTATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTGGCTTTCTACCCCAACTACGAGGAC
TGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGTCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGATC
CCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACATTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGG
GACCTGTGCCTGCAGGCAGGGATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTTTCTGTGGCTTGGAGCTGCC
CTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGTGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCA
GCCAATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAG
AACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAG
GCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATT
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>TRAPPC9|83696|protein
MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEI
YGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVG
DLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTTNGINPDTSTEIGRAK
NCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSI
AEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPG
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MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEI
YGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVG
DLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTTNGINPDTSTEIGRAK
NCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSI
AEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPG
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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 (3) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 10 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) | | | AS | - (3-21) |
- >70 | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | | | ASD | - - |
- - | ||
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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
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 |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Kalsner L, 2018 | - | - | | | ASD | - | - | - | 100 | - |
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.