Evidence Details for IMMP2L
Basic Information Top
| Gene Symbol: | IMMP2L ( IMP2,IMP2-LIKE ) |
|---|---|
| Gene Full Name: | IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) |
| Band: | 7q31.1 |
| Quick Links | Entrez ID:83943; OMIM: 605977; Uniprot ID:IMP2L_HUMAN; ENSEMBL ID: ENSG00000184903; HGNC ID: 14598 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>IMMP2L|83943|nucleotide
ATGGCACAGTCACAAGGGTGGGTGAAAAGATACATCAAGGCCTTTTGTAAAGGCTTCTTTGTGGCGGTGCCTGTGGCAGTGACTTTCTTGGATCGGGTCGCCTGT
GTGGCAAGAGTAGAAGGAGCATCGATGCAGCCTTCTTTGAATCCTGGGGGGAGCCAGTCATCTGATGTGGTGCTTTTGAACCACTGGAAAGTGAGGAATTTTGAA
GTACACCGTGGTGACATTGTATCATTGGTGTCTCCTAAAAACCCAGAACAGAAGATCATTAAGAGAGTGATTGCTCTTGAAGGAGATATTGTCAGAACCATAGGA
CACAAAAACCGGTATGTCAAAGTCCCCCGTGGTCACATCTGGGTTGAAGGTGATCATCATGGACACAGTTTTGACAGTAATTCTTTTGGGCCGGTTTCCCTAGGA
CTTCTGCATGCCCATGCCACACATATCCTGTGGCCCCCAGAGCGCTGGCAGAAATTGGAATCTGTTCTTCCTCCAGAGCGCTTACCAGTACAGAGAGAAGAGGAA
TGA
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ATGGCACAGTCACAAGGGTGGGTGAAAAGATACATCAAGGCCTTTTGTAAAGGCTTCTTTGTGGCGGTGCCTGTGGCAGTGACTTTCTTGGATCGGGTCGCCTGT
GTGGCAAGAGTAGAAGGAGCATCGATGCAGCCTTCTTTGAATCCTGGGGGGAGCCAGTCATCTGATGTGGTGCTTTTGAACCACTGGAAAGTGAGGAATTTTGAA
GTACACCGTGGTGACATTGTATCATTGGTGTCTCCTAAAAACCCAGAACAGAAGATCATTAAGAGAGTGATTGCTCTTGAAGGAGATATTGTCAGAACCATAGGA
CACAAAAACCGGTATGTCAAAGTCCCCCGTGGTCACATCTGGGTTGAAGGTGATCATCATGGACACAGTTTTGACAGTAATTCTTTTGGGCCGGTTTCCCTAGGA
CTTCTGCATGCCCATGCCACACATATCCTGTGGCCCCCAGAGCGCTGGCAGAAATTGGAATCTGTTCTTCCTCCAGAGCGCTTACCAGTACAGAGAGAAGAGGAA
TGA
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>IMMP2L|83943|protein
MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASMQPSLNPGGSQSSDVVLLNHWKVRNFEVHRGDIVSLVSPKNPEQKIIKRVIALEGDIVRTIG
HKNRYVKVPRGHIWVEGDHHGHSFDSNSFGPVSLGLLHAHATHILWPPERWQKLESVLPPERLPVQREEE
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MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASMQPSLNPGGSQSSDVVLLNHWKVRNFEVHRGDIVSLVSPKNPEQKIIKRVIALEGDIVRTIG
HKNRYVKVPRGHIWVEGDHHGHSFDSNSFGPVSLGLLHAHATHILWPPERWQKLESVLPPERLPVQREEE
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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 (6) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 10 (13) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_3 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 390 | 390 (-) |  | | ASD | - - |
- - | ||
| Maestrini, 2009_2 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 | 127 (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 2
| 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%) |
- - | ||
| Maestrini, 2009_6 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 294 (19.73%) | | | ASD | - - |
- | 180 (20.00%) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Maestrini, 2009 | IMGSAC | SNP microarray | | | ASD | 127 | 127 | - | - | - | 188 | 188 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Pagnamenta, 2010 | IMGSAC | SNP microarray | - | - | ASD | 1 | - | 1 | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Liu, 2001 | USA | microsatellite-based genomic screen | | | autism, ASD | 110 | - | 110 | - | - | - | - |
Low 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) |
|||||
| MIXED/OTHERS | ||||||||||
| Liang S, 2014_1 | China | ABI 3730 | 370 | 370 (-) |  | | autistic | - 3 to 19 years |
- - | |
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 TopNGS Mosaic SNV Studies TopNGS 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.