Evidence Details for XIRP2
Basic Information Top
| Gene Symbol: | XIRP2 ( CMYA3,DKFZp451G055,DKFZp779G1747,FLJ39111,FLJ40200,MYOMAXIN ) |
|---|---|
| Gene Full Name: | xin actin-binding repeat containing 2 |
| Band: | 2q24.3 |
| Quick Links | Entrez ID:129446; OMIM: 609778; Uniprot ID:XIRP2_HUMAN; ENSEMBL ID: ENSG00000163092; HGNC ID: 14303 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>XIRP2|129446|nucleotide
ATGTTCCCAATGCAGAAGGGCTCCCTCAACCTCCTGAGGCAGAAATGGGAATCTTGTGATTATCAGAGAAGTGAGTGTCATCCCAGGGACAGCCATTGTACAATT
TTCCAGCCTCAGGAAAGCAAATTGCTTGCGCCTGAAGGAGAGGTAGTATCAGCACCTCAATCTTTGGATCCCACAAGTCTGCCCTACAGTACAGGGGAAGAGATG
TGGAGTTCGAAGCCGGAAGAGAAGGATTCTGTGGACAAGAGTAACAACACCAGGGAATATGGTCGGCCAGAAGTGCTGAAGGAGGATTCCCTGAGCAGTCGGCGC
AGGATTGAACGCTTTTCCATTGCCCTTGATGAGCTGAGGAGTGTGTTTGAGGCTCCTAAGAGTGGAAACAAACCAGCTGAGTACGGTGGAAAGGAAGTGGAAATT
GAGCGAAGTTTGTGCTCGCCAGCTTTTAAGAGTCACCCTGGGAGCCAGCTGGAGGATTCTGTGAAAGATTCAGACAAGAAAGGCAAGGAAACATCTTTTGACAAG
ATGTCACCTGAAAGTGGTCACAGCCGCATCTTTGAAGCGACTGCTGGCCCTAATAAGCCTGAGAGTGGATTTGCAGAAGACAGTGCTGCTCGGGGCGAGGGTGTG
TCAGACCTCCACGAAGTGGTCTCCCTGAAGGAGCGGATGGCGAGGTACCAGGCAGCTGTTTCCAGGGGTGACTGCCGCAGCTTCTCTGCTAATATGATGGAAGAA
TCAGAAATGTGCGCAGTGCCTGGTGGTTTGGCCAAGGTGAAGAAACAATTTGAGGACGAAATTACTTCTTCCCGTAATACCTTTGCTCAATACCAATATCAACAT
CAGAACAGATCTGAGCAGGAGGCAATTCATAGCAGCCAGGTTGGCACTTCAAGAAGCAGCCAGGAAATGGCAAGAAATGAACAAGAAGGGTCCAAAGTACAGAAA
ATTGATGTTCATGGAACAGAAATGGTCTCTCATCTTGAAAAGCACACCGAGGAAGTAAACCAAGCATCTCAGTTTCATCAATATGTTCAAGAAACTGTCATTGAT
ACACCTGAGGATGAAGAGATTCCAAAGGTTTCGACTAAGTTGTTAAAAGAGCAGTTTGAAAAGTCTGCCCAGGAAAAGATCCTTTATTCTGACAAAGAGATGACA
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ATGTTCCCAATGCAGAAGGGCTCCCTCAACCTCCTGAGGCAGAAATGGGAATCTTGTGATTATCAGAGAAGTGAGTGTCATCCCAGGGACAGCCATTGTACAATT
TTCCAGCCTCAGGAAAGCAAATTGCTTGCGCCTGAAGGAGAGGTAGTATCAGCACCTCAATCTTTGGATCCCACAAGTCTGCCCTACAGTACAGGGGAAGAGATG
TGGAGTTCGAAGCCGGAAGAGAAGGATTCTGTGGACAAGAGTAACAACACCAGGGAATATGGTCGGCCAGAAGTGCTGAAGGAGGATTCCCTGAGCAGTCGGCGC
AGGATTGAACGCTTTTCCATTGCCCTTGATGAGCTGAGGAGTGTGTTTGAGGCTCCTAAGAGTGGAAACAAACCAGCTGAGTACGGTGGAAAGGAAGTGGAAATT
GAGCGAAGTTTGTGCTCGCCAGCTTTTAAGAGTCACCCTGGGAGCCAGCTGGAGGATTCTGTGAAAGATTCAGACAAGAAAGGCAAGGAAACATCTTTTGACAAG
ATGTCACCTGAAAGTGGTCACAGCCGCATCTTTGAAGCGACTGCTGGCCCTAATAAGCCTGAGAGTGGATTTGCAGAAGACAGTGCTGCTCGGGGCGAGGGTGTG
TCAGACCTCCACGAAGTGGTCTCCCTGAAGGAGCGGATGGCGAGGTACCAGGCAGCTGTTTCCAGGGGTGACTGCCGCAGCTTCTCTGCTAATATGATGGAAGAA
TCAGAAATGTGCGCAGTGCCTGGTGGTTTGGCCAAGGTGAAGAAACAATTTGAGGACGAAATTACTTCTTCCCGTAATACCTTTGCTCAATACCAATATCAACAT
CAGAACAGATCTGAGCAGGAGGCAATTCATAGCAGCCAGGTTGGCACTTCAAGAAGCAGCCAGGAAATGGCAAGAAATGAACAAGAAGGGTCCAAAGTACAGAAA
ATTGATGTTCATGGAACAGAAATGGTCTCTCATCTTGAAAAGCACACCGAGGAAGTAAACCAAGCATCTCAGTTTCATCAATATGTTCAAGAAACTGTCATTGAT
ACACCTGAGGATGAAGAGATTCCAAAGGTTTCGACTAAGTTGTTAAAAGAGCAGTTTGAAAAGTCTGCCCAGGAAAAGATCCTTTATTCTGACAAAGAGATGACA
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>XIRP2|129446|protein
MFPMQKGSLNLLRQKWESCDYQRSECHPRDSHCTIFQPQESKLLAPEGEVVSAPQSLDPTSLPYSTGEEMWSSKPEEKDSVDKSNNTREYGRPEVLKEDSLSSRR
RIERFSIALDELRSVFEAPKSGNKPAEYGGKEVEIERSLCSPAFKSHPGSQLEDSVKDSDKKGKETSFDKMSPESGHSRIFEATAGPNKPESGFAEDSAARGEGV
SDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQK
IDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKKLLLQDKEICILCQKTVYPMECLVADKQ
NFHKSCFRCHHCNSKLSLGNYASLHGQIYCKPHFKQLFKSKGNYDEGFGHKQHKDRWNCKNQSRSVDFIPNEEPNMCKNIAENTLVPGDRNEHLDAGNSEGQRND
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MFPMQKGSLNLLRQKWESCDYQRSECHPRDSHCTIFQPQESKLLAPEGEVVSAPQSLDPTSLPYSTGEEMWSSKPEEKDSVDKSNNTREYGRPEVLKEDSLSSRR
RIERFSIALDELRSVFEAPKSGNKPAEYGGKEVEIERSLCSPAFKSHPGSQLEDSVKDSDKKGKETSFDKMSPESGHSRIFEATAGPNKPESGFAEDSAARGEGV
SDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQK
IDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKKLLLQDKEICILCQKTVYPMECLVADKQ
NFHKSCFRCHHCNSKLSLGNYASLHGQIYCKPHFKQLFKSKGNYDEGFGHKQHKDRWNCKNQSRSVDFIPNEEPNMCKNIAENTLVPGDRNEHLDAGNSEGQRND
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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 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (4) |
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 | |||||||||||
| 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 TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Blasi, 2006_1 | IMGSAC | multiplexed ligation detection reaction technique (LDR), GENEMAPPER software | 261 | - (-) | | | ASD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large 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 Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS 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.