Evidence Details for EXOC4
Basic Information Top
| Gene Symbol: | EXOC4 ( MGC27170,REC8,SEC8,SEC8L1,Sec8p ) |
|---|---|
| Gene Full Name: | exocyst complex component 4 |
| Band: | 7q33 |
| Quick Links | Entrez ID:60412; OMIM: 608185; Uniprot ID:EXOC4_HUMAN; ENSEMBL ID: ENSG00000131558; HGNC ID: 30389 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EXOC4|60412|nucleotide
ATGGCGGCAGAAGCAGCTGGTGGGAAATACAGAAGCACAGTCAGCAAAAGCAAAGACCCCTCGGGGCTGCTCATCTCTGTGATCAGGACTCTGTCTACTAGTGAC
GATGTCGAAGACAGGGAAAATGAAAAGGGTCGCCTTGAAGAAGCCTACGAGAAATGTGACCGTGACCTGGATGAATTGATTGTACAGCACTACACAGAATTGACG
ACAGCCATTCGCACATACCAGAGCATCACAGAGCGCATCACTAACTCCCGAAATAAAATAAAGCAGGTAAAAGAGAACCTGCTTTCATGCAAGATGCTGCTGCAC
TGCAAACGGGATGAGCTTCGGAAACTGTGGATTGAAGGAATTGAGCATAAGCATGTCCTGAACTTGTTGGATGAAATTGAGAATATCAAGCAAGTGCCTCAAAAG
CTGGAACAGTGCATGGCCAGCAAGCACTATCTCAGTGCCACTGACATGTTGGTGTCAGCAGTTGAGTCTTTGGAGGGCCCCCTGCTCCAGGTGGAAGGACTGAGT
GACCTTCGACTAGAGCTTCACAGCAAGAAGATGAACCTTCACTTGGTTCTCATAGATGAACTACACCGGCACCTGTACATCAAATCGACTAGCCGAGTTGTGCAG
CGTAACAAGGAAAAAGGGAAAATCAGCTCCCTCGTGAAAGATGCTTCTGTTCCTCTGATTGATGTTACAAACCTCCCTACTCCTCGAAAATTCCTTGATACCTCT
CACTATTCTACTGCTGGAAGCTCAAGTGTGAGGGAGATAAATCTGCAGGACATCAAGGAAGATTTAGAATTGGATCCAGAGGAAAACAGCACCCTGTTTATGGGT
ATCCTCATTAAGGGCTTGGCGAAACTGAAGAAGATCCCAGAAACAGTTAAGGCAATCATAGAGCGCTTGGAGCAGGAGTTGAAGCAAATTGTGAAGAGGTCTACA
ACCCAGGTGGCAGACAGTGGCTATCAGCGGGGGGAGAACGTTACTGTGGAGAACCAACCAAGGTTGCTTCTAGAACTGCTGGAGTTACTGTTTGACAAGTTTAAT
GCTGTAGCCGCTGCACACTCTGTGGTCCTGGGATACCTGCAGGACACTGTAGTGACTCCACTGACTCAGCAGGAAGATATCAAACTGTATGATATGGCAGATGTA
Show »
ATGGCGGCAGAAGCAGCTGGTGGGAAATACAGAAGCACAGTCAGCAAAAGCAAAGACCCCTCGGGGCTGCTCATCTCTGTGATCAGGACTCTGTCTACTAGTGAC
GATGTCGAAGACAGGGAAAATGAAAAGGGTCGCCTTGAAGAAGCCTACGAGAAATGTGACCGTGACCTGGATGAATTGATTGTACAGCACTACACAGAATTGACG
ACAGCCATTCGCACATACCAGAGCATCACAGAGCGCATCACTAACTCCCGAAATAAAATAAAGCAGGTAAAAGAGAACCTGCTTTCATGCAAGATGCTGCTGCAC
TGCAAACGGGATGAGCTTCGGAAACTGTGGATTGAAGGAATTGAGCATAAGCATGTCCTGAACTTGTTGGATGAAATTGAGAATATCAAGCAAGTGCCTCAAAAG
CTGGAACAGTGCATGGCCAGCAAGCACTATCTCAGTGCCACTGACATGTTGGTGTCAGCAGTTGAGTCTTTGGAGGGCCCCCTGCTCCAGGTGGAAGGACTGAGT
GACCTTCGACTAGAGCTTCACAGCAAGAAGATGAACCTTCACTTGGTTCTCATAGATGAACTACACCGGCACCTGTACATCAAATCGACTAGCCGAGTTGTGCAG
CGTAACAAGGAAAAAGGGAAAATCAGCTCCCTCGTGAAAGATGCTTCTGTTCCTCTGATTGATGTTACAAACCTCCCTACTCCTCGAAAATTCCTTGATACCTCT
CACTATTCTACTGCTGGAAGCTCAAGTGTGAGGGAGATAAATCTGCAGGACATCAAGGAAGATTTAGAATTGGATCCAGAGGAAAACAGCACCCTGTTTATGGGT
ATCCTCATTAAGGGCTTGGCGAAACTGAAGAAGATCCCAGAAACAGTTAAGGCAATCATAGAGCGCTTGGAGCAGGAGTTGAAGCAAATTGTGAAGAGGTCTACA
ACCCAGGTGGCAGACAGTGGCTATCAGCGGGGGGAGAACGTTACTGTGGAGAACCAACCAAGGTTGCTTCTAGAACTGCTGGAGTTACTGTTTGACAAGTTTAAT
GCTGTAGCCGCTGCACACTCTGTGGTCCTGGGATACCTGCAGGACACTGTAGTGACTCCACTGACTCAGCAGGAAGATATCAAACTGTATGATATGGCAGATGTA
Show »
>EXOC4|60412|protein
MAAEAAGGKYRSTVSKSKDPSGLLISVIRTLSTSDDVEDRENEKGRLEEAYEKCDRDLDELIVQHYTELTTAIRTYQSITERITNSRNKIKQVKENLLSCKMLLH
CKRDELRKLWIEGIEHKHVLNLLDEIENIKQVPQKLEQCMASKHYLSATDMLVSAVESLEGPLLQVEGLSDLRLELHSKKMNLHLVLIDELHRHLYIKSTSRVVQ
RNKEKGKISSLVKDASVPLIDVTNLPTPRKFLDTSHYSTAGSSSVREINLQDIKEDLELDPEENSTLFMGILIKGLAKLKKIPETVKAIIERLEQELKQIVKRST
TQVADSGYQRGENVTVENQPRLLLELLELLFDKFNAVAAAHSVVLGYLQDTVVTPLTQQEDIKLYDMADVWVKIQDVLQMLLTEYLDMKNTRTASEPSAQLSYAS
TGREFAAFFAKKKPQRPKNSLFKFESSSHAISMSAYLREQRRELYSRSGELQG
Show »
MAAEAAGGKYRSTVSKSKDPSGLLISVIRTLSTSDDVEDRENEKGRLEEAYEKCDRDLDELIVQHYTELTTAIRTYQSITERITNSRNKIKQVKENLLSCKMLLH
CKRDELRKLWIEGIEHKHVLNLLDEIENIKQVPQKLEQCMASKHYLSATDMLVSAVESLEGPLLQVEGLSDLRLELHSKKMNLHLVLIDELHRHLYIKSTSRVVQ
RNKEKGKISSLVKDASVPLIDVTNLPTPRKFLDTSHYSTAGSSSVREINLQDIKEDLELDPEENSTLFMGILIKGLAKLKKIPETVKAIIERLEQELKQIVKRST
TQVADSGYQRGENVTVENQPRLLLELLELLFDKFNAVAAAHSVVLGYLQDTVVTPLTQQEDIKLYDMADVWVKIQDVLQMLLTEYLDMKNTRTASEPSAQLSYAS
TGREFAAFFAKKKPQRPKNSLFKFESSSHAISMSAYLREQRRELYSRSGELQG
Show »
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 (2) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 16 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | 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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Shao, 2002 | USA | microsatellite-based genomic screen | | | autism | 52 | - | 52 | - | 112 | - | - |
Low 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 |
|---|---|---|---|---|
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
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.