Evidence Details for IL1RAPL1
Basic Information Top
| Gene Symbol: | IL1RAPL1 ( IL1R8,IL1RAPL,MRX10,MRX21,MRX34,OPHN4,TIGIRR-2 ) |
|---|---|
| Gene Full Name: | interleukin 1 receptor accessory protein-like 1 |
| Band: | Xp21.3-p21.2 |
| Quick Links | Entrez ID:11141; OMIM: 300206; Uniprot ID:IRPL1_HUMAN; ENSEMBL ID: ENSG00000169306; HGNC ID: 5996 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>IL1RAPL1|11141|nucleotide
ATGAAAGCTCCGATTCCACACTTGATTCTCTTATACGCTACTTTTACTCAGAGTTTGAAGGTTGTGACCAAAAGAGGCTCCGCCGATGGATGCACTGACTGGTCT
ATCGATATCAAGAAATATCAAGTTTTGGTGGGAGAGCCTGTTCGAATCAAATGTGCACTCTTTTATGGTTATATCAGAACAAATTACTCCCTTGCCCAAAGTGCT
GGACTCAGTTTGATGTGGTACAAAAGTTCTGGTCCTGGAGACTTTGAAGAGCCAATAGCCTTTGACGGAAGTAGAATGAGCAAAGAAGAAGACTCCATTTGGTTC
CGGCCAACATTGCTACAGGACAGTGGTCTCTACGCCTGTGTCATCAGAAACTCCACTTACTGTATGAAAGTATCCATCTCACTGACAGTGGGTGAAAATGACACT
GGACTCTGCTATAATTCCAAGATGAAGTATTTTGAAAAAGCTGAACTTAGCAAAAGCAAGGAAATTTCATGCCGTGACATAGAGGATTTTCTACTGCCAACCAGA
GAACCTGAAATCCTTTGGTACAAGGAATGCAGGACAAAAACATGGAGGCCAAGTATTGTATTCAAAAGAGATACTCTGCTTATAAGAGAAGTCAGAGAAGATGAC
ATTGGAAATTATACCTGTGAATTAAAATATGGAGGCTTTGTTGTGAGAAGAACTACTGAATTAACTGTTACAGCCCCTCTGACTGATAAGCCACCCAAGCTTTTG
TATCCTATGGAAAGTAAACTGACAATTCAGGAGACCCAGCTGGGTGACTCTGCTAATCTAACCTGCAGAGCTTTCTTTGGGTACAGCGGAGATGTCAGTCCTTTA
ATTTACTGGATGAAAGGAGAAAAATTTATTGAAGATCTGGATGAAAATCGAGTTTGGGAAAGTGACATTAGAATTCTTAAGGAGCATCTTGGGGAACAGGAAGTT
TCCATCTCATTAATTGTGGACTCTGTGGAAGAAGGTGACTTGGGAAATTACTCCTGTTATGTTGAAAATGGAAATGGACGTCGACACGCCAGCGTTCTCCTTCAT
AAACGAGAGCTAATGTACACAGTGGAACTTGCTGGAGGCCTTGGTGCTATACTCTTGCTGCTTGTATGTTTGGTGACCATCTACAAGTGTTACAAGATAGAAATC
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ATGAAAGCTCCGATTCCACACTTGATTCTCTTATACGCTACTTTTACTCAGAGTTTGAAGGTTGTGACCAAAAGAGGCTCCGCCGATGGATGCACTGACTGGTCT
ATCGATATCAAGAAATATCAAGTTTTGGTGGGAGAGCCTGTTCGAATCAAATGTGCACTCTTTTATGGTTATATCAGAACAAATTACTCCCTTGCCCAAAGTGCT
GGACTCAGTTTGATGTGGTACAAAAGTTCTGGTCCTGGAGACTTTGAAGAGCCAATAGCCTTTGACGGAAGTAGAATGAGCAAAGAAGAAGACTCCATTTGGTTC
CGGCCAACATTGCTACAGGACAGTGGTCTCTACGCCTGTGTCATCAGAAACTCCACTTACTGTATGAAAGTATCCATCTCACTGACAGTGGGTGAAAATGACACT
GGACTCTGCTATAATTCCAAGATGAAGTATTTTGAAAAAGCTGAACTTAGCAAAAGCAAGGAAATTTCATGCCGTGACATAGAGGATTTTCTACTGCCAACCAGA
GAACCTGAAATCCTTTGGTACAAGGAATGCAGGACAAAAACATGGAGGCCAAGTATTGTATTCAAAAGAGATACTCTGCTTATAAGAGAAGTCAGAGAAGATGAC
ATTGGAAATTATACCTGTGAATTAAAATATGGAGGCTTTGTTGTGAGAAGAACTACTGAATTAACTGTTACAGCCCCTCTGACTGATAAGCCACCCAAGCTTTTG
TATCCTATGGAAAGTAAACTGACAATTCAGGAGACCCAGCTGGGTGACTCTGCTAATCTAACCTGCAGAGCTTTCTTTGGGTACAGCGGAGATGTCAGTCCTTTA
ATTTACTGGATGAAAGGAGAAAAATTTATTGAAGATCTGGATGAAAATCGAGTTTGGGAAAGTGACATTAGAATTCTTAAGGAGCATCTTGGGGAACAGGAAGTT
TCCATCTCATTAATTGTGGACTCTGTGGAAGAAGGTGACTTGGGAAATTACTCCTGTTATGTTGAAAATGGAAATGGACGTCGACACGCCAGCGTTCTCCTTCAT
AAACGAGAGCTAATGTACACAGTGGAACTTGCTGGAGGCCTTGGTGCTATACTCTTGCTGCTTGTATGTTTGGTGACCATCTACAAGTGTTACAAGATAGAAATC
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>IL1RAPL1|11141|protein
MKAPIPHLILLYATFTQSLKVVTKRGSADGCTDWSIDIKKYQVLVGEPVRIKCALFYGYIRTNYSLAQSAGLSLMWYKSSGPGDFEEPIAFDGSRMSKEEDSIWF
RPTLLQDSGLYACVIRNSTYCMKVSISLTVGENDTGLCYNSKMKYFEKAELSKSKEISCRDIEDFLLPTREPEILWYKECRTKTWRPSIVFKRDTLLIREVREDD
IGNYTCELKYGGFVVRRTTELTVTAPLTDKPPKLLYPMESKLTIQETQLGDSANLTCRAFFGYSGDVSPLIYWMKGEKFIEDLDENRVWESDIRILKEHLGEQEV
SISLIVDSVEEGDLGNYSCYVENGNGRRHASVLLHKRELMYTVELAGGLGAILLLLVCLVTIYKCYKIEIMLFYRNHFGAEELDGDNKDYDAYLSYTKVDPDQWN
QETGEEERFALEILPDMLEKHYGYKLFIPDRDLIPTGTYIEDVARCVDQSKRLIIVMTPNYVVRRGWSIFELETRLRNMLVTGEIKVILIECSELRGIMNYQEVE
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MKAPIPHLILLYATFTQSLKVVTKRGSADGCTDWSIDIKKYQVLVGEPVRIKCALFYGYIRTNYSLAQSAGLSLMWYKSSGPGDFEEPIAFDGSRMSKEEDSIWF
RPTLLQDSGLYACVIRNSTYCMKVSISLTVGENDTGLCYNSKMKYFEKAELSKSKEISCRDIEDFLLPTREPEILWYKECRTKTWRPSIVFKRDTLLIREVREDD
IGNYTCELKYGGFVVRRTTELTVTAPLTDKPPKLLYPMESKLTIQETQLGDSANLTCRAFFGYSGDVSPLIYWMKGEKFIEDLDENRVWESDIRILKEHLGEQEV
SISLIVDSVEEGDLGNYSCYVENGNGRRHASVLLHKRELMYTVELAGGLGAILLLLVCLVTIYKCYKIEIMLFYRNHFGAEELDGDNKDYDAYLSYTKVDPDQWN
QETGEEERFALEILPDMLEKHYGYKLFIPDRDLIPTGTYIEDVARCVDQSKRLIIVMTPNYVVRRGWSIFELETRLRNMLVTGEIKVILIECSELRGIMNYQEVE
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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 | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 1 (2) | 20 (6) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Mental retardation, X-linked, 21/34 (300143) |
| Description | Non-syndromic X-linked ID and/or ASD |
| Reference(s) | 18005360; 20531469; 18801879; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Edens, 2011 | Honduras | aCGH | |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| C Yuen RK, 2017 | - | WGS | | | ASD | - | - | - | - | 1745 | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Butler MG, 2015 | - | Illumina HiSeq2000 | | | ASD | - | - | - | 30 | Sanger sequencing |
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.