Evidence Details for SEPT3
Basic Information Top
| Gene Symbol: | SEPT3 ( MGC133218,SEP3,bK250D10.3 ) |
|---|---|
| Gene Full Name: | septin 3 |
| Band: | 22q13.2 |
| Quick Links | Entrez ID:55964; OMIM: 608314; Uniprot ID:SEPT3_HUMAN; ENSEMBL ID: ENSG00000100167; HGNC ID: 10750 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SEPT3|55964|nucleotide
ATGTCCAAAGGGCTCCCAGAGACCAGGACGGACGCAGCCATGTCAGAGCTGGTGCCTGAGCCCAGGCCTAAGCCAGCGGTGCCCATGAAGCCCATGAGCATCAAC
TCCAACCTGCTGGGCTACATCGGCATCGACACCATCATCGAGCAGATGCGCAAGAAGACCATGAAGACCGGTTTCGACTTCAACATCATGGTCGTTGGCCAGAGT
GGACTGGGCAAATCAACGCTGGTCAACACGCTCTTCAAATCCCAAGTGAGCCGCAAGGCCTCCAGCTGGAACCGGGAGGAGAAGATCCCCAAGACAGTGGAGATC
AAAGCTATCGGGCATGTGATAGAGGAAGGCGGTGTCAAAATGAAGCTGACCGTCATCGACACCCCAGGCTTTGGAGACCAAATCAACAATGAAAACTGCTGGGAG
CCCATTGAGAAGTACATCAATGAGCAGTACGAGAAGTTCCTGAAGGAGGAGGTCAACATCGCCAGGAAGAAACGCATCCCTGACACTCGTGTCCACTGCTGCCTT
TACTTCATCTCTCCCACAGGACACTCCTTGCGACCTCTGGATCTTGAGTTCATGAAACACCTCAGCAAGGTTGTGAACATCATCCCTGTCATTGCTAAGGCTGAC
ACCATGACCCTGGAGGAGAAGTCTGAATTCAAGCAAAGGGTTCGCAAGGAGCTTGAAGTAAATGGCATTGAATTCTACCCCCAGAAGGAATTTGATGAGGATTTG
GAGGATAAGACGGAGAATGACAAAATCAGGCAGGAGAGCATGCCTTTTGCTGTGGTGGGAAGTGACAAGGAGTACCAAGTGAATGGCAAGAGGGTCCTCGGCCGA
AAAACTCCATGGGGGATCATCGAAGTGGAAAACCTCAACCACTGTGAGTTTGCCCTGCTTCGAGACTTTGTCATCAGGACCCACCTCCAGGACCTCAAGGAAGTG
ACACACAACATCCACTATGAGACTTACAGGGCCAAGCGGCTCAATGACAATGGAGGCCTCCCTCCGGTGAGCGTGGACACAGAGGAAAGCCACGACAGTAACCCA
TGA
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ATGTCCAAAGGGCTCCCAGAGACCAGGACGGACGCAGCCATGTCAGAGCTGGTGCCTGAGCCCAGGCCTAAGCCAGCGGTGCCCATGAAGCCCATGAGCATCAAC
TCCAACCTGCTGGGCTACATCGGCATCGACACCATCATCGAGCAGATGCGCAAGAAGACCATGAAGACCGGTTTCGACTTCAACATCATGGTCGTTGGCCAGAGT
GGACTGGGCAAATCAACGCTGGTCAACACGCTCTTCAAATCCCAAGTGAGCCGCAAGGCCTCCAGCTGGAACCGGGAGGAGAAGATCCCCAAGACAGTGGAGATC
AAAGCTATCGGGCATGTGATAGAGGAAGGCGGTGTCAAAATGAAGCTGACCGTCATCGACACCCCAGGCTTTGGAGACCAAATCAACAATGAAAACTGCTGGGAG
CCCATTGAGAAGTACATCAATGAGCAGTACGAGAAGTTCCTGAAGGAGGAGGTCAACATCGCCAGGAAGAAACGCATCCCTGACACTCGTGTCCACTGCTGCCTT
TACTTCATCTCTCCCACAGGACACTCCTTGCGACCTCTGGATCTTGAGTTCATGAAACACCTCAGCAAGGTTGTGAACATCATCCCTGTCATTGCTAAGGCTGAC
ACCATGACCCTGGAGGAGAAGTCTGAATTCAAGCAAAGGGTTCGCAAGGAGCTTGAAGTAAATGGCATTGAATTCTACCCCCAGAAGGAATTTGATGAGGATTTG
GAGGATAAGACGGAGAATGACAAAATCAGGCAGGAGAGCATGCCTTTTGCTGTGGTGGGAAGTGACAAGGAGTACCAAGTGAATGGCAAGAGGGTCCTCGGCCGA
AAAACTCCATGGGGGATCATCGAAGTGGAAAACCTCAACCACTGTGAGTTTGCCCTGCTTCGAGACTTTGTCATCAGGACCCACCTCCAGGACCTCAAGGAAGTG
ACACACAACATCCACTATGAGACTTACAGGGCCAAGCGGCTCAATGACAATGGAGGCCTCCCTCCGGTGAGCGTGGACACAGAGGAAAGCCACGACAGTAACCCA
TGA
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>SEPT3|55964|protein
MSKGLPETRTDAAMSELVPEPRPKPAVPMKPMSINSNLLGYIGIDTIIEQMRKKTMKTGFDFNIMVVGQSGLGKSTLVNTLFKSQVSRKASSWNREEKIPKTVEI
KAIGHVIEEGGVKMKLTVIDTPGFGDQINNENCWEPIEKYINEQYEKFLKEEVNIARKKRIPDTRVHCCLYFISPTGHSLRPLDLEFMKHLSKVVNIIPVIAKAD
TMTLEEKSEFKQRVRKELEVNGIEFYPQKEFDEDLEDKTENDKIRQESMPFAVVGSDKEYQVNGKRVLGRKTPWGIIEVENLNHCEFALLRDFVIRTHLQDLKEV
THNIHYETYRAKRLNDNGGLPPVSVDTEESHDSNP
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MSKGLPETRTDAAMSELVPEPRPKPAVPMKPMSINSNLLGYIGIDTIIEQMRKKTMKTGFDFNIMVVGQSGLGKSTLVNTLFKSQVSRKASSWNREEKIPKTVEI
KAIGHVIEEGGVKMKLTVIDTPGFGDQINNENCWEPIEKYINEQYEKFLKEEVNIARKKRIPDTRVHCCLYFISPTGHSLRPLDLEFMKHLSKVVNIIPVIAKAD
TMTLEEKSEFKQRVRKELEVNGIEFYPQKEFDEDLEDKTENDKIRQESMPFAVVGSDKEYQVNGKRVLGRKTPWGIIEVENLNHCEFALLRDFVIRTHLQDLKEV
THNIHYETYRAKRLNDNGGLPPVSVDTEESHDSNP
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top