Evidence Details for CNTNAP2
Basic Information Top
| Gene Symbol: | CNTNAP2 ( AUTS15,CASPR2,CDFE,DKFZp781D1846,NRXN4,PTHSL1 ) |
|---|---|
| Gene Full Name: | contactin associated protein-like 2 |
| Band: | 7q35-q36.1 |
| Quick Links | Entrez ID:26047; OMIM: 604569; Uniprot ID:CNTP2_HUMAN; ENSEMBL ID: ENSG00000174469; HGNC ID: 13830 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CNTNAP2|26047|nucleotide
ATGCAGGCGGCTCCGCGCGCCGGCTGCGGGGCAGCGCTCCTGCTGTGGATTGTCAGCAGCTGCCTCTGCAGAGCCTGGACGGCTCCCTCCACGTCCCAAAAATGT
GATGAGCCACTTGTCTCTGGACTCCCCCATGTGGCTTTCAGCAGCTCCTCCTCCATCTCTGGTAGCTATTCTCCCGGCTATGCCAAGATAAACAAGAGAGGAGGT
GCTGGGGGATGGTCTCCATCAGACAGCGACCATTATCAATGGCTTCAGGTTGACTTTGGCAATCGGAAGCAGATCAGTGCCATTGCAACCCAAGGAAGGTATAGC
AGCTCAGATTGGGTGACCCAATACCGGATGCTCTACAGCGACACAGGGAGAAACTGGAAACCCTATCATCAAGATGGGAATATCTGGGCATTTCCCGGAAACATT
AACTCTGACGGTGTGGTCCGGCACGAATTACAGCATCCGATTATTGCCCGCTATGTGCGCATAGTGCCTCTGGATTGGAATGGAGAAGGTCGCATTGGACTCAGA
ATTGAAGTTTATGGCTGTTCTTACTGGGCTGATGTTATCAACTTTGATGGCCATGTTGTATTACCATATAGATTCAGAAACAAGAAGATGAAAACACTGAAAGAT
GTCATTGCCTTGAACTTTAAGACGTCTGAAAGTGAAGGAGTAATCCTGCACGGAGAAGGACAGCAAGGAGATTACATTACCTTGGAACTGAAAAAAGCCAAGCTG
GTCCTCAGTTTAAACTTAGGAAGCAACCAGCTTGGCCCCATATATGGCCACACATCAGTGATGACAGGAAGTTTGCTGGATGACCACCACTGGCACTCTGTGGTC
ATTGAGCGCCAGGGGCGGAGCATTAACCTCACTCTGGACAGGAGCATGCAGCACTTCCGTACCAATGGAGAGTTTGACTACCTGGACTTGGACTATGAGATAACC
TTTGGAGGCATCCCTTTCTCTGGCAAGCCCAGCTCCAGCAGTAGAAAGAATTTCAAAGGCTGCATGGAAAGCATCAACTACAATGGCGTCAACATTACTGATCTT
GCCAGAAGGAAGAAATTAGAGCCCTCAAATGTGGGAAATTTGAGCTTTTCTTGTGTGGAACCCTATACGGTGCCTGTCTTTTTCAACGCTACAAGTTACCTGGAG
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ATGCAGGCGGCTCCGCGCGCCGGCTGCGGGGCAGCGCTCCTGCTGTGGATTGTCAGCAGCTGCCTCTGCAGAGCCTGGACGGCTCCCTCCACGTCCCAAAAATGT
GATGAGCCACTTGTCTCTGGACTCCCCCATGTGGCTTTCAGCAGCTCCTCCTCCATCTCTGGTAGCTATTCTCCCGGCTATGCCAAGATAAACAAGAGAGGAGGT
GCTGGGGGATGGTCTCCATCAGACAGCGACCATTATCAATGGCTTCAGGTTGACTTTGGCAATCGGAAGCAGATCAGTGCCATTGCAACCCAAGGAAGGTATAGC
AGCTCAGATTGGGTGACCCAATACCGGATGCTCTACAGCGACACAGGGAGAAACTGGAAACCCTATCATCAAGATGGGAATATCTGGGCATTTCCCGGAAACATT
AACTCTGACGGTGTGGTCCGGCACGAATTACAGCATCCGATTATTGCCCGCTATGTGCGCATAGTGCCTCTGGATTGGAATGGAGAAGGTCGCATTGGACTCAGA
ATTGAAGTTTATGGCTGTTCTTACTGGGCTGATGTTATCAACTTTGATGGCCATGTTGTATTACCATATAGATTCAGAAACAAGAAGATGAAAACACTGAAAGAT
GTCATTGCCTTGAACTTTAAGACGTCTGAAAGTGAAGGAGTAATCCTGCACGGAGAAGGACAGCAAGGAGATTACATTACCTTGGAACTGAAAAAAGCCAAGCTG
GTCCTCAGTTTAAACTTAGGAAGCAACCAGCTTGGCCCCATATATGGCCACACATCAGTGATGACAGGAAGTTTGCTGGATGACCACCACTGGCACTCTGTGGTC
ATTGAGCGCCAGGGGCGGAGCATTAACCTCACTCTGGACAGGAGCATGCAGCACTTCCGTACCAATGGAGAGTTTGACTACCTGGACTTGGACTATGAGATAACC
TTTGGAGGCATCCCTTTCTCTGGCAAGCCCAGCTCCAGCAGTAGAAAGAATTTCAAAGGCTGCATGGAAAGCATCAACTACAATGGCGTCAACATTACTGATCTT
GCCAGAAGGAAGAAATTAGAGCCCTCAAATGTGGGAAATTTGAGCTTTTCTTGTGTGGAACCCTATACGGTGCCTGTCTTTTTCAACGCTACAAGTTACCTGGAG
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>CNTNAP2|26047|protein
MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSPGYAKINKRGGAGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYS
SSDWVTQYRMLYSDTGRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPIIARYVRIVPLDWNGEGRIGLRIEVYGCSYWADVINFDGHVVLPYRFRNKKMKTLKD
VIALNFKTSESEGVILHGEGQQGDYITLELKKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFRTNGEFDYLDLDYEIT
FGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSNVGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLG
NVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEASAVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQ
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MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSPGYAKINKRGGAGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYS
SSDWVTQYRMLYSDTGRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPIIARYVRIVPLDWNGEGRIGLRIEVYGCSYWADVINFDGHVVLPYRFRNKKMKTLKD
VIALNFKTSESEGVILHGEGQQGDYITLELKKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFRTNGEFDYLDLDYEIT
FGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSNVGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLG
NVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEASAVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQ
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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) | Yes | 1 (4) | 1 (6) | 1 (3) | 3 (9) | 0 (0) | 0 (0) | 0 (0) | 0 (4) | 3 (5) | 44 (31) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR (AD too?) |
|---|---|
| OMIM | Cortical dysplasia-focal epilepsy syndrome (610042) |
| Description | Cortical dysplasia-focal epilepsy syndrome and Pitt-Hopkins-like syndrome-1 are autosomal recessive disorders. Deletions or chromosomal rearrangements disrupting a single copy of CNTNAP2 have been reported in patients with ASD, ID, epilepsy, schizophrenia and bipolar disorder as well as in healthy subjects; however, the clinical significance of the disruption of only one allele is unknown |
| Reference(s) | 16571880; 20513142; |
| Level | Level 4: The disorder is a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 4
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Arking, 2008_2 | Replication | Taqman Assay | 1295 | 1295 (-) |  | | ASD | - - |
- - | ||
| Arking, 2008_1 | Discovery | Affymetrix 500K arrays | 72 | 148 (-) | | | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | |  | ASD | - - |
- - | ||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_2 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 2705 | - (-) | | | 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 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
| Al-Murrani A, 2012 | New Zealand | Chromosome Microarray? | - | - | ASD | 1 | 1 | - | - | - | - | - |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
| Eriksson MA, 2015 | Sweden | FISH? | - | - | autism | - | - | - | - | 162 | - | 162 |
Linkage Studies Top