Evidence Details for KRR1
Basic Information Top
| Gene Symbol: | KRR1 ( HRB2,RIP-1 ) |
|---|---|
| Gene Full Name: | KRR1, small subunit (SSU) processome component, homolog (yeast) |
| Band: | 12q21.2 |
| Quick Links | Entrez ID:11103; OMIM: 612817; Uniprot ID:KRR1_HUMAN; ENSEMBL ID: ENSG00000111615; HGNC ID: 5176 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KRR1|11103|nucleotide
ATGGCGTCTCCCTCGCTGGAGCGGCCAGAAAAAGGCGCTGGAAAAAGTGAATTTCGTAACCAGAAGCCGAAGCCGGAGAACCAAGATGAATCAGAACTCCTTACG
GTTCCTGATGGTTGGAAGGAACCAGCTTTTTCCAAAGAGGACAATCCCAGAGGACTTTTGGAGGAGAGCAGTTTCGCAACTTTGTTCCCAAAATACAGGGAAGCT
TACTTGAAAGAGTGTTGGCCATTGGTGCAGAAAGCCTTAAATGAACATCATGTTAATGCAACCCTGGACCTGATCGAAGGCAGCATGACTGTTTGTACTACAAAG
AAGACTTTTGATCCATATATCATCATTAGGGCCAGAGATCTGATAAAACTGTTAGCAAGGAGTGTTTCATTTGAACAGGCAGTACGAATTCTTCAGGATGATGTT
GCATGTGACATCATTAAAATAGGTTCTTTAGTAAGGAATAAAGAGAGATTTGTAAAACGAAGACAACGGCTTATTGGTCCCAAAGGATCTACATTGAAGGCATTG
GAACTCTTAACTAATTGTTACATTATGGTTCAGGGAAACACAGTTTCAGCCATTGGACCTTTTAGTGGCTTAAAAGAGGTTAGAAAAGTAGTCCTTGATACTATG
AAGAATATTCATCCAATTTATAACATTAAAAGCTTAATGATTAAGAGAGAGTTGGCAAAAGATTCTGAATTACGATCACAAAGTTGGGAGAGATTTTTGCCACAG
TTCAAACACAAAAATGTGAATAAACGCAAGGAACCAAAGAAAAAAACTGTTAAGAAAGAATATACGCCATTCCCACCACCACAACCAGAAAGTCAGATCGATAAA
GAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGCTAAACAAGCAGAAGCCATCAGTAAGAGACAAGAG
GAAAGAAACAAAGCATTTATTCCACCTAAGGAAAAACCAATTGTGAAACCTAAGGAAGCTTCTACTGAAACTAAAATTGATGTGGCCAGCATCAAGGAAAAGGTT
AAGAAAGCAAAGAATAAGAAACTGGGAGCTCTTACAGCTGAAGAAATTGCACTTAAGATGGAGGCAGATGAAAAGAAAAAGAAGAAAAAAAAGTAA
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ATGGCGTCTCCCTCGCTGGAGCGGCCAGAAAAAGGCGCTGGAAAAAGTGAATTTCGTAACCAGAAGCCGAAGCCGGAGAACCAAGATGAATCAGAACTCCTTACG
GTTCCTGATGGTTGGAAGGAACCAGCTTTTTCCAAAGAGGACAATCCCAGAGGACTTTTGGAGGAGAGCAGTTTCGCAACTTTGTTCCCAAAATACAGGGAAGCT
TACTTGAAAGAGTGTTGGCCATTGGTGCAGAAAGCCTTAAATGAACATCATGTTAATGCAACCCTGGACCTGATCGAAGGCAGCATGACTGTTTGTACTACAAAG
AAGACTTTTGATCCATATATCATCATTAGGGCCAGAGATCTGATAAAACTGTTAGCAAGGAGTGTTTCATTTGAACAGGCAGTACGAATTCTTCAGGATGATGTT
GCATGTGACATCATTAAAATAGGTTCTTTAGTAAGGAATAAAGAGAGATTTGTAAAACGAAGACAACGGCTTATTGGTCCCAAAGGATCTACATTGAAGGCATTG
GAACTCTTAACTAATTGTTACATTATGGTTCAGGGAAACACAGTTTCAGCCATTGGACCTTTTAGTGGCTTAAAAGAGGTTAGAAAAGTAGTCCTTGATACTATG
AAGAATATTCATCCAATTTATAACATTAAAAGCTTAATGATTAAGAGAGAGTTGGCAAAAGATTCTGAATTACGATCACAAAGTTGGGAGAGATTTTTGCCACAG
TTCAAACACAAAAATGTGAATAAACGCAAGGAACCAAAGAAAAAAACTGTTAAGAAAGAATATACGCCATTCCCACCACCACAACCAGAAAGTCAGATCGATAAA
GAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGCTAAACAAGCAGAAGCCATCAGTAAGAGACAAGAG
GAAAGAAACAAAGCATTTATTCCACCTAAGGAAAAACCAATTGTGAAACCTAAGGAAGCTTCTACTGAAACTAAAATTGATGTGGCCAGCATCAAGGAAAAGGTT
AAGAAAGCAAAGAATAAGAAACTGGGAGCTCTTACAGCTGAAGAAATTGCACTTAAGATGGAGGCAGATGAAAAGAAAAAGAAGAAAAAAAAGTAA
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>KRR1|11103|protein
MASPSLERPEKGAGKSEFRNQKPKPENQDESELLTVPDGWKEPAFSKEDNPRGLLEESSFATLFPKYREAYLKECWPLVQKALNEHHVNATLDLIEGSMTVCTTK
KTFDPYIIIRARDLIKLLARSVSFEQAVRILQDDVACDIIKIGSLVRNKERFVKRRQRLIGPKGSTLKALELLTNCYIMVQGNTVSAIGPFSGLKEVRKVVLDTM
KNIHPIYNIKSLMIKRELAKDSELRSQSWERFLPQFKHKNVNKRKEPKKKTVKKEYTPFPPPQPESQIDKELASGEYFLKANQKKRQKMEAIKAKQAEAISKRQE
ERNKAFIPPKEKPIVKPKEASTETKIDVASIKEKVKKAKNKKLGALTAEEIALKMEADEKKKKKKK
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MASPSLERPEKGAGKSEFRNQKPKPENQDESELLTVPDGWKEPAFSKEDNPRGLLEESSFATLFPKYREAYLKECWPLVQKALNEHHVNATLDLIEGSMTVCTTK
KTFDPYIIIRARDLIKLLARSVSFEQAVRILQDDVACDIIKIGSLVRNKERFVKRRQRLIGPKGSTLKALELLTNCYIMVQGNTVSAIGPFSGLKEVRKVVLDTM
KNIHPIYNIKSLMIKRELAKDSELRSQSWERFLPQFKHKNVNKRKEPKKKTVKKEYTPFPPPQPESQIDKELASGEYFLKANQKKRQKMEAIKAKQAEAISKRQE
ERNKAFIPPKEKPIVKPKEASTETKIDVASIKEKVKKAKNKKLGALTAEEIALKMEADEKKKKKKK
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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 | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
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) |
|||||
| MIXED/OTHERS | ||||||||||||
| Kuo PH, 2015_1 | Discovery | Affymetrix SNP array 6.0 | 597 (-) |  | | ASD | - - |
- | 1595 (-) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
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 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.