Evidence Details for MYT1L
Basic Information Top
Gene Symbol: | MYT1L ( NZF1 ) |
---|---|
Gene Full Name: | myelin transcription factor 1-like |
Band: | 2p25.3 |
Quick Links | Entrez ID:23040; OMIM: 613084; Uniprot ID:MYT1L_HUMAN; ENSEMBL ID: ENSG00000186487; HGNC ID: 7623 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MYT1L|23040|nucleotide
ATGGAGGTGGACACCGAGGAGAAGCGGCATCGCACGCGGTCCAAAGGGGTTCGAGTTCCCGTGGAACCAGCCATACAAGAGCTGTTCAGCTGTCCCACCCCTGGC
TGTGACGGCAGTGGTCATGTCAGTGGCAAATATGCAAGACACAGAAGTGTATATGGTTGTCCCTTGGCGAAAAAAAGAAAAACACAAGATAAACAGCCCCAGGAA
CCTGCTCCTAAACGAAAGCCATTTGCCGTGAAAGCAGACAGCTCCTCAGTGGATGAGTGTGACGACAGTGATGGGACTGAGGACATGGATGAGAAGGAGGAGGAT
GAGGGGGAGGAGTACTCCGAGGACAATGACGAGCCAGGGGATGAGGACGAGGAGGACGAGGAGGGGGACCGGGAGGAGGAGGAGGAGATCGAGGAGGAGGATGAG
GACGATGACGAGGATGGAGAAGATGTGGAGGATGAAGAAGAGGAAGAGGAGGAGGAGGAGGAGGAGGAAGAGGAAGAAGAAAACGAAGACCATCAAATGAATTGT
CACAATACTCGAATAATGCAAGACACAGAAAAGGATGATAACAATAATGACGAATATGACAATTACGATGAACTGGTGGCCAAGTCATTGTTAAACCTCGGCAAA
ATCGCTGAGGATGCAGCCTACCGGGCCAGGACTGAGTCAGAAATGAACAGCAATACCTCCAATAGTCTGGAAGACGATAGTGACAAAAACGAAAACCTGGGTCGG
AAAAGTGAGTTGAGTTTAGACTTAGACAGTGATGTTGTTAGAGAAACAGTGGACTCCCTTAAACTATTAGCCCAAGGACACGGTGTTGTGCTCTCAGAAAACATG
AATGACAGAAATTATGCAGACAGCATGTCGCAGCAAGACAGTAGAAATATGAATTACGTCATGTTGGGGAAGCCCATGAACAACGGACTCATGGAAAAGATGGTG
GAGGAGAGCGATGAGGAGGTGTGTCTGAGCAGTCTGGAGTGTTTGAGGAATCAGTGCTTCGACCTGGCCAGGAAGCTCAGTGAGACCAACCCGCAGGAGAGGAAT
CCGCAGCAGAACATGAACATCCGTCAGCATGTCCGGCCAGAAGAGGACTTCCCCGGAAGGACGCCGGACAGAAACTACTCGGACATGCTGAACCTCATGCGGCTG
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ATGGAGGTGGACACCGAGGAGAAGCGGCATCGCACGCGGTCCAAAGGGGTTCGAGTTCCCGTGGAACCAGCCATACAAGAGCTGTTCAGCTGTCCCACCCCTGGC
TGTGACGGCAGTGGTCATGTCAGTGGCAAATATGCAAGACACAGAAGTGTATATGGTTGTCCCTTGGCGAAAAAAAGAAAAACACAAGATAAACAGCCCCAGGAA
CCTGCTCCTAAACGAAAGCCATTTGCCGTGAAAGCAGACAGCTCCTCAGTGGATGAGTGTGACGACAGTGATGGGACTGAGGACATGGATGAGAAGGAGGAGGAT
GAGGGGGAGGAGTACTCCGAGGACAATGACGAGCCAGGGGATGAGGACGAGGAGGACGAGGAGGGGGACCGGGAGGAGGAGGAGGAGATCGAGGAGGAGGATGAG
GACGATGACGAGGATGGAGAAGATGTGGAGGATGAAGAAGAGGAAGAGGAGGAGGAGGAGGAGGAGGAAGAGGAAGAAGAAAACGAAGACCATCAAATGAATTGT
CACAATACTCGAATAATGCAAGACACAGAAAAGGATGATAACAATAATGACGAATATGACAATTACGATGAACTGGTGGCCAAGTCATTGTTAAACCTCGGCAAA
ATCGCTGAGGATGCAGCCTACCGGGCCAGGACTGAGTCAGAAATGAACAGCAATACCTCCAATAGTCTGGAAGACGATAGTGACAAAAACGAAAACCTGGGTCGG
AAAAGTGAGTTGAGTTTAGACTTAGACAGTGATGTTGTTAGAGAAACAGTGGACTCCCTTAAACTATTAGCCCAAGGACACGGTGTTGTGCTCTCAGAAAACATG
AATGACAGAAATTATGCAGACAGCATGTCGCAGCAAGACAGTAGAAATATGAATTACGTCATGTTGGGGAAGCCCATGAACAACGGACTCATGGAAAAGATGGTG
GAGGAGAGCGATGAGGAGGTGTGTCTGAGCAGTCTGGAGTGTTTGAGGAATCAGTGCTTCGACCTGGCCAGGAAGCTCAGTGAGACCAACCCGCAGGAGAGGAAT
CCGCAGCAGAACATGAACATCCGTCAGCATGTCCGGCCAGAAGAGGACTTCCCCGGAAGGACGCCGGACAGAAACTACTCGGACATGCTGAACCTCATGCGGCTG
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>MYT1L|23040|protein
MEVDTEEKRHRTRSKGVRVPVEPAIQELFSCPTPGCDGSGHVSGKYARHRSVYGCPLAKKRKTQDKQPQEPAPKRKPFAVKADSSSVDECDDSDGTEDMDEKEED
EGEEYSEDNDEPGDEDEEDEEGDREEEEEIEEEDEDDDEDGEDVEDEEEEEEEEEEEEEEEENEDHQMNCHNTRIMQDTEKDDNNNDEYDNYDELVAKSLLNLGK
IAEDAAYRARTESEMNSNTSNSLEDDSDKNENLGRKSELSLDLDSDVVRETVDSLKLLAQGHGVVLSENMNDRNYADSMSQQDSRNMNYVMLGKPMNNGLMEKMV
EESDEEVCLSSLECLRNQCFDLARKLSETNPQERNPQQNMNIRQHVRPEEDFPGRTPDRNYSDMLNLMRLEEQLSPRSRVFASCAKEDGCHERDDDTTSVNSDRS
EEVFDMTKGNLTLLEKAIALETERAKAMREKMAMEAGRRDNMRSYEDQSPRQLPGEDRKPKSSDSHVKKPYYDPSRTEKKESKCPTPGCDGTGHVTGLYPHHRSL
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MEVDTEEKRHRTRSKGVRVPVEPAIQELFSCPTPGCDGSGHVSGKYARHRSVYGCPLAKKRKTQDKQPQEPAPKRKPFAVKADSSSVDECDDSDGTEDMDEKEED
EGEEYSEDNDEPGDEDEEDEEGDREEEEEIEEEDEDDDEDGEDVEDEEEEEEEEEEEEEEEENEDHQMNCHNTRIMQDTEKDDNNNDEYDNYDELVAKSLLNLGK
IAEDAAYRARTESEMNSNTSNSLEDDSDKNENLGRKSELSLDLDSDVVRETVDSLKLLAQGHGVVLSENMNDRNYADSMSQQDSRNMNYVMLGKPMNNGLMEKMV
EESDEEVCLSSLECLRNQCFDLARKLSETNPQERNPQQNMNIRQHVRPEEDFPGRTPDRNYSDMLNLMRLEEQLSPRSRVFASCAKEDGCHERDDDTTSVNSDRS
EEVFDMTKGNLTLLEKAIALETERAKAMREKMAMEAGRRDNMRSYEDQSPRQLPGEDRKPKSSDSHVKKPYYDPSRTEKKESKCPTPGCDGTGHVTGLYPHHRSL
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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) | 1 (1) | 1 (2) | 0 (0) | 1 (1) | 2 (5) | 0 (0) | 1 (1) | 0 (0) | 33 (10) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
C Yuen RK, 2017 | - | WGS | ASD | - | - | - | - | 1745 | - | - |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Buxbaum, 2001 | USA | microsatellite-based genomic screen | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - | ||
Allen-Brady, 2010 | USA | SNP-based genomic screen | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
-1.28321 | Down | 0.00220263 | |
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
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 |
O'Roak BJ, 2014 | 3486 | - | 59 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk. |
Wang T, 2016 | 1543 | 1045 | 54 | De novo genic mutations among a Chinese autism spectrum disorder cohort |
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Wang T, 2016 | China | Illumina HiSeq 2000 | ASD | 1045 | - | - | 1543 | PCR and Sanger sequencing |
Low Scale Gene Studies Top
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