Evidence Details for CRYZL1
Basic Information Top
Gene Symbol: | CRYZL1 ( 4P11,QOH-1 ) |
---|---|
Gene Full Name: | crystallin, zeta (quinone reductase)-like 1 |
Band: | 21q22.11 |
Quick Links | Entrez ID:9946; OMIM: 603920; Uniprot ID:QORL1_HUMAN; ENSEMBL ID: ENSG00000205758; HGNC ID: 2420 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CRYZL1|9946|nucleotide
ATGAAAGGCTTATATTTCCAACAGAGTTCCACAGATGAAGAAATAACATTTGTATTTCAAGAAAAGGAAGATCTTCCTGTTACAGAGGATAACTTTGTGAAACTT
CAAGTTAAAGCTTGTGCTCTGAGCCAGATAAATACAAAGCTTCTGGCAGAAATGAAGATGAAAAAGGATTTATTTCCTGTTGGGAGAGAAATTGCTGGAATTGTA
TTAGATGTTGGAAGCAAGGTATCATTCTTTCAACCAGATGATGAAGTAGTTGGAATTTTGCCCCTGGACTCTGAAGACCCTGGACTTTGTGAAGTTGTTAGAGTA
CATGAGCATTACTTGGTTCATAAACCAGAAAAGGTCACATGGACGGAAGCAGCAGGAAGCATTCGGGATGGAGTGCGTGCCTATACAGCTCTGCATTATCTTTCT
CATCTCTCTCCTGGAAAATCAGTGCTGATAATGGATGGAGCAAGTGCATTTGGTACAATAGCTATTCAGTTAGCACATCATAGAGGAGCCAAAGTGATTTCAACA
GCATGCAGCCTTGAAGATAAGCAGTGCCTTGAAAGATTCAGACCTCCCATAGCCCGAGTGATTGATGTATCTAATGGGAAAGTTCATGTTGCTGAAAGCTGTTTG
GAAGAAACAGGTGGCCTGGGAGTAGATATTGTCCTAGATGCTGGAGTGAGATTATATAGTAAAGATGATGAACCAGCTGTAAAACTACAACTACTACCACATAAA
CATGATATCATCACACTTCTTGGTGTTGGAGGCCACTGGGTAACAACAGAAGAAAACCTTCAGTTGGATCCTCCAGATAGCCACTGCCTTTTCCTCAAGGGAGCA
ACGTTAGCTTTCCTGAATGATGAAGTTTGGAATTTGTCAAATGTACAACAGGGAAAATATCTTTGTATCTTAAAGGATGTGATGGAGAAGTTATCAACTGGTGTT
TTCAGACCTCAGTTGGATGAACCCATTCCACTGTATGAGGCAAAAGTTTCCATGGAAGCTGTTCAGAAAAATCAAGGAAGAAAAAAGCAAGTTGTTCAATTTTAA
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ATGAAAGGCTTATATTTCCAACAGAGTTCCACAGATGAAGAAATAACATTTGTATTTCAAGAAAAGGAAGATCTTCCTGTTACAGAGGATAACTTTGTGAAACTT
CAAGTTAAAGCTTGTGCTCTGAGCCAGATAAATACAAAGCTTCTGGCAGAAATGAAGATGAAAAAGGATTTATTTCCTGTTGGGAGAGAAATTGCTGGAATTGTA
TTAGATGTTGGAAGCAAGGTATCATTCTTTCAACCAGATGATGAAGTAGTTGGAATTTTGCCCCTGGACTCTGAAGACCCTGGACTTTGTGAAGTTGTTAGAGTA
CATGAGCATTACTTGGTTCATAAACCAGAAAAGGTCACATGGACGGAAGCAGCAGGAAGCATTCGGGATGGAGTGCGTGCCTATACAGCTCTGCATTATCTTTCT
CATCTCTCTCCTGGAAAATCAGTGCTGATAATGGATGGAGCAAGTGCATTTGGTACAATAGCTATTCAGTTAGCACATCATAGAGGAGCCAAAGTGATTTCAACA
GCATGCAGCCTTGAAGATAAGCAGTGCCTTGAAAGATTCAGACCTCCCATAGCCCGAGTGATTGATGTATCTAATGGGAAAGTTCATGTTGCTGAAAGCTGTTTG
GAAGAAACAGGTGGCCTGGGAGTAGATATTGTCCTAGATGCTGGAGTGAGATTATATAGTAAAGATGATGAACCAGCTGTAAAACTACAACTACTACCACATAAA
CATGATATCATCACACTTCTTGGTGTTGGAGGCCACTGGGTAACAACAGAAGAAAACCTTCAGTTGGATCCTCCAGATAGCCACTGCCTTTTCCTCAAGGGAGCA
ACGTTAGCTTTCCTGAATGATGAAGTTTGGAATTTGTCAAATGTACAACAGGGAAAATATCTTTGTATCTTAAAGGATGTGATGGAGAAGTTATCAACTGGTGTT
TTCAGACCTCAGTTGGATGAACCCATTCCACTGTATGAGGCAAAAGTTTCCATGGAAGCTGTTCAGAAAAATCAAGGAAGAAAAAAGCAAGTTGTTCAATTTTAA
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>CRYZL1|9946|protein
MKGLYFQQSSTDEEITFVFQEKEDLPVTEDNFVKLQVKACALSQINTKLLAEMKMKKDLFPVGREIAGIVLDVGSKVSFFQPDDEVVGILPLDSEDPGLCEVVRV
HEHYLVHKPEKVTWTEAAGSIRDGVRAYTALHYLSHLSPGKSVLIMDGASAFGTIAIQLAHHRGAKVISTACSLEDKQCLERFRPPIARVIDVSNGKVHVAESCL
EETGGLGVDIVLDAGVRLYSKDDEPAVKLQLLPHKHDIITLLGVGGHWVTTEENLQLDPPDSHCLFLKGATLAFLNDEVWNLSNVQQGKYLCILKDVMEKLSTGV
FRPQLDEPIPLYEAKVSMEAVQKNQGRKKQVVQF
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MKGLYFQQSSTDEEITFVFQEKEDLPVTEDNFVKLQVKACALSQINTKLLAEMKMKKDLFPVGREIAGIVLDVGSKVSFFQPDDEVVGILPLDSEDPGLCEVVRV
HEHYLVHKPEKVTWTEAAGSIRDGVRAYTALHYLSHLSPGKSVLIMDGASAFGTIAIQLAHHRGAKVISTACSLEDKQCLERFRPPIARVIDVSNGKVHVAESCL
EETGGLGVDIVLDAGVRLYSKDDEPAVKLQLLPHKHDIITLLGVGGHWVTTEENLQLDPPDSHCLFLKGATLAFLNDEVWNLSNVQQGKYLCILKDVMEKLSTGV
FRPQLDEPIPLYEAKVSMEAVQKNQGRKKQVVQF
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Evidence summary Top
Click 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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS 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
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Bi C, 2012 | China | GAII | - | - | - | - | 67 | - |
Low Scale Gene Studies Top
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