Evidence Details for PLXNA4
Basic Information Top
| Gene Symbol: | PLXNA4 ( DKFZp434G0625,DKFZp566O0546,FAYV2820,FLJ35026,FLJ38287,KIAA1550,PLEXA4,PLXNA4A,PLXNA4B,PRO34003 ) |
|---|---|
| Gene Full Name: | plexin A4 |
| Band: | 7q32.3 |
| Quick Links | Entrez ID:91584; OMIM: 604280; Uniprot ID:PLXA4_HUMAN; ENSEMBL ID: ENSG00000221866; HGNC ID: 9102 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PLXNA4|91584|nucleotide
ATGAAAGCCATGCCCTGGAACTGGACCTGCCTTCTCTCCCACCTCCTCATGGTGGGCATGGGCTCCTCCACTTTGCTCACCCGGCAGCCAGCCCCGCTGTCCCAG
AAGCAGCGGTCATTTGTCACATTCCGAGGAGAGCCCGCCGAGGGTTTCAATCACCTGGTGGTGGATGAGAGGACAGGACACATTTACTTGGGGGCCGTCAATCGG
ATTTACAAGCTCTCCAGCGACCTGAAGGTCTTGGTGACGCATGAGACAGGGCCGGACGAGGACAACCCCAAGTGTTACCCACCCCGCATCGTCCAGACCTGCAAT
GAGCCCCTGACCACCACCAACAATGTCAACAAGATGCTCCTCATAGACTACAAGGAGAACAGGCTGATTGCCTGTGGGAGCCTGTACCAAGGCATCTGCAAGCTG
CTGAGGCTGGAGGACCTCTTCAAGCTGGGGGAGCCTTATCATAAGAAGGAGCACTATCTGTCAGGTGTCAACGAGAGCGGCTCAGTCTTTGGAGTGATCGTCTCC
TACAGCAACCTGGATGACAAGCTGTTCATTGCCACGGCAGTGGATGGGAAGCCCGAGTATTTTCCCACCATCTCCAGCCGGAAACTGACCAAGAACTCTGAGGCG
GATGGCATGTTCGCGTACGTCTTCCATGATGAGTTCGTGGCCTCGATGATTAAGATCCCTTCGGACACCTTCACCATCATCCCTGACTTTGATATCTACTATGTC
TATGGTTTTAGCAGTGGCAACTTTGTCTACTTTTTGACCCTCCAACCTGAGATGGTGTCTCCACCAGGCTCCACCACCAAGGAGCAGGTGTATACATCCAAGCTC
GTGAGGCTTTGCAAGGAGGACACAGCCTTCAACTCCTATGTAGAGGTGCCCATTGGCTGTGAGCGCAGTGGGGTGGAGTACCGCCTGCTGCAGGCTGCCTACCTG
TCCAAAGCGGGGGCCGTGCTTGGCAGGACCCTTGGAGTCCATCCAGATGATGACCTGCTCTTCACCGTCTTCTCCAAGGGCCAGAAGCGGAAAATGAAATCCCTG
GATGAGTCGGCCCTGTGCATCTTCATCTTGAAGCAGATAAATGACCGCATTAAGGAGCGGCTGCAGTCTTGTTACCGGGGCGAGGGCACGCTGGACCTGGCCTGG
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ATGAAAGCCATGCCCTGGAACTGGACCTGCCTTCTCTCCCACCTCCTCATGGTGGGCATGGGCTCCTCCACTTTGCTCACCCGGCAGCCAGCCCCGCTGTCCCAG
AAGCAGCGGTCATTTGTCACATTCCGAGGAGAGCCCGCCGAGGGTTTCAATCACCTGGTGGTGGATGAGAGGACAGGACACATTTACTTGGGGGCCGTCAATCGG
ATTTACAAGCTCTCCAGCGACCTGAAGGTCTTGGTGACGCATGAGACAGGGCCGGACGAGGACAACCCCAAGTGTTACCCACCCCGCATCGTCCAGACCTGCAAT
GAGCCCCTGACCACCACCAACAATGTCAACAAGATGCTCCTCATAGACTACAAGGAGAACAGGCTGATTGCCTGTGGGAGCCTGTACCAAGGCATCTGCAAGCTG
CTGAGGCTGGAGGACCTCTTCAAGCTGGGGGAGCCTTATCATAAGAAGGAGCACTATCTGTCAGGTGTCAACGAGAGCGGCTCAGTCTTTGGAGTGATCGTCTCC
TACAGCAACCTGGATGACAAGCTGTTCATTGCCACGGCAGTGGATGGGAAGCCCGAGTATTTTCCCACCATCTCCAGCCGGAAACTGACCAAGAACTCTGAGGCG
GATGGCATGTTCGCGTACGTCTTCCATGATGAGTTCGTGGCCTCGATGATTAAGATCCCTTCGGACACCTTCACCATCATCCCTGACTTTGATATCTACTATGTC
TATGGTTTTAGCAGTGGCAACTTTGTCTACTTTTTGACCCTCCAACCTGAGATGGTGTCTCCACCAGGCTCCACCACCAAGGAGCAGGTGTATACATCCAAGCTC
GTGAGGCTTTGCAAGGAGGACACAGCCTTCAACTCCTATGTAGAGGTGCCCATTGGCTGTGAGCGCAGTGGGGTGGAGTACCGCCTGCTGCAGGCTGCCTACCTG
TCCAAAGCGGGGGCCGTGCTTGGCAGGACCCTTGGAGTCCATCCAGATGATGACCTGCTCTTCACCGTCTTCTCCAAGGGCCAGAAGCGGAAAATGAAATCCCTG
GATGAGTCGGCCCTGTGCATCTTCATCTTGAAGCAGATAAATGACCGCATTAAGGAGCGGCTGCAGTCTTGTTACCGGGGCGAGGGCACGCTGGACCTGGCCTGG
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>PLXNA4|91584|protein
MKAMPWNWTCLLSHLLMVGMGSSTLLTRQPAPLSQKQRSFVTFRGEPAEGFNHLVVDERTGHIYLGAVNRIYKLSSDLKVLVTHETGPDEDNPKCYPPRIVQTCN
EPLTTTNNVNKMLLIDYKENRLIACGSLYQGICKLLRLEDLFKLGEPYHKKEHYLSGVNESGSVFGVIVSYSNLDDKLFIATAVDGKPEYFPTISSRKLTKNSEA
DGMFAYVFHDEFVASMIKIPSDTFTIIPDFDIYYVYGFSSGNFVYFLTLQPEMVSPPGSTTKEQVYTSKLVRLCKEDTAFNSYVEVPIGCERSGVEYRLLQAAYL
SKAGAVLGRTLGVHPDDDLLFTVFSKGQKRKMKSLDESALCIFILKQINDRIKERLQSCYRGEGTLDLAWLKVKDIPCSSALLTIDDNFCGLDMNAPLGVSDMVR
GIPVFTEDRDRMTSVIAYVYKNHSLAFVGTKSGKLKKMPGTSLCPTLELQTGPRSHRATVTLELLFSSCSSN
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MKAMPWNWTCLLSHLLMVGMGSSTLLTRQPAPLSQKQRSFVTFRGEPAEGFNHLVVDERTGHIYLGAVNRIYKLSSDLKVLVTHETGPDEDNPKCYPPRIVQTCN
EPLTTTNNVNKMLLIDYKENRLIACGSLYQGICKLLRLEDLFKLGEPYHKKEHYLSGVNESGSVFGVIVSYSNLDDKLFIATAVDGKPEYFPTISSRKLTKNSEA
DGMFAYVFHDEFVASMIKIPSDTFTIIPDFDIYYVYGFSSGNFVYFLTLQPEMVSPPGSTTKEQVYTSKLVRLCKEDTAFNSYVEVPIGCERSGVEYRLLQAAYL
SKAGAVLGRTLGVHPDDDLLFTVFSKGQKRKMKSLDESALCIFILKQINDRIKERLQSCYRGEGTLDLAWLKVKDIPCSSALLTIDDNFCGLDMNAPLGVSDMVR
GIPVFTEDRDRMTSVIAYVYKNHSLAFVGTKSGKLKKMPGTSLCPTLELQTGPRSHRATVTLELLFSSCSSN
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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 | 2 (4) | 0 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 11 (10) |
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 | |||||||||||
| Maestrini, 2009_2 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 | 127 (-) |  | | ASD | - - |
- - | ||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) | |  | ASD | - - |
- - | ||
| Maestrini, 2009_3 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 390 | 390 (-) | | | ASD | - - |
- - | ||
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) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_5 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 (20.47%) | | | ASD | - - |
- | 188 (21.28%) |
- - | ||
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 |
Linkage Studies Top