Evidence Details for GCNT1
Basic Information Top
| Gene Symbol: | GCNT1 ( C2GNT,C2GNT-L,C2GNT1,G6NT,MGC126335,MGC126336,NACGT2,NAGCT2 ) |
|---|---|
| Gene Full Name: | glucosaminyl (N-acetyl) transferase 1, core 2 |
| Band: | 9q21.13 |
| Quick Links | Entrez ID:2650; OMIM: 600391; Uniprot ID:GCNT1_HUMAN; ENSEMBL ID: ENSG00000187210; HGNC ID: 4203 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GCNT1|2650|nucleotide
ATGCTGAGGACGTTGCTGCGAAGGAGACTTTTTTCTTATCCCACCAAATACTACTTTATGGTTCTTGTTTTATCCCTAATCACCTTCTCCGTTTTAAGGATTCAT
CAAAAGCCTGAATTTGTAAGTGTCAGACACTTGGAGCTTGCTGGGGAGAATCCTAGTAGTGATATTAATTGCACCAAAGTTTTACAGGGTGATGTAAATGAAATC
CAAAAGGTAAAGCTTGAGATCCTAACAGTGAAATTTAAAAAGCGCCCTCGGTGGACACCTGACGACTATATAAACATGACCAGTGACTGTTCTTCTTTCATCAAG
AGACGCAAATATATTGTAGAACCCCTTAGTAAAGAAGAGGCGGAGTTTCCAATAGCATATTCTATAGTGGTTCATCACAAGATTGAAATGCTTGACAGGCTGCTG
AGGGCCATCTATATGCCTCAGAATTTCTATTGCATTCATGTGGACACAAAATCCGAGGATTCCTATTTAGCTGCAGTGATGGGCATCGCTTCCTGTTTTAGTAAT
GTCTTTGTGGCCAGCCGATTGGAGAGTGTGGTTTATGCATCGTGGAGCCGGGTTCAGGCTGACCTCAACTGCATGAAGGATCTCTATGCAATGAGTGCAAACTGG
AAGTACTTGATAAATCTTTGTGGTATGGATTTTCCCATTAAAACCAACCTAGAAATTGTCAGGAAGCTCAAGTTGTTAATGGGAGAAAACAACCTGGAAACGGAG
AGGATGCCATCCCATAAAGAAGAAAGGTGGAAGAAGCGGTATGAGGTCGTTAATGGAAAGCTGACAAACACAGGGACTGTCAAAATGCTTCCTCCACTCGAAACA
CCTCTCTTTTCTGGCAGTGCCTACTTCGTGGTCAGTAGGGAGTATGTGGGGTATGTACTACAGAATGAAAAAATCCAAAAGTTGATGGAGTGGGCACAAGACACA
TACAGCCCTGATGAGTATCTCTGGGCCACCATCCAAAGGATTCCTGAAGTCCCGGGCTCACTCCCTGCCAGCCATAAGTATGATCTGTCTGACATGCAAGCAGTT
GCCAGGTTTGTCAAGTGGCAGTACTTTGAGGGTGATGTTTCCAAGGGTGCTCCCTACCCGCCCTGCGATGGAGTCCATGTGCGCTCAGTGTGCATTTTCGGAGCT
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ATGCTGAGGACGTTGCTGCGAAGGAGACTTTTTTCTTATCCCACCAAATACTACTTTATGGTTCTTGTTTTATCCCTAATCACCTTCTCCGTTTTAAGGATTCAT
CAAAAGCCTGAATTTGTAAGTGTCAGACACTTGGAGCTTGCTGGGGAGAATCCTAGTAGTGATATTAATTGCACCAAAGTTTTACAGGGTGATGTAAATGAAATC
CAAAAGGTAAAGCTTGAGATCCTAACAGTGAAATTTAAAAAGCGCCCTCGGTGGACACCTGACGACTATATAAACATGACCAGTGACTGTTCTTCTTTCATCAAG
AGACGCAAATATATTGTAGAACCCCTTAGTAAAGAAGAGGCGGAGTTTCCAATAGCATATTCTATAGTGGTTCATCACAAGATTGAAATGCTTGACAGGCTGCTG
AGGGCCATCTATATGCCTCAGAATTTCTATTGCATTCATGTGGACACAAAATCCGAGGATTCCTATTTAGCTGCAGTGATGGGCATCGCTTCCTGTTTTAGTAAT
GTCTTTGTGGCCAGCCGATTGGAGAGTGTGGTTTATGCATCGTGGAGCCGGGTTCAGGCTGACCTCAACTGCATGAAGGATCTCTATGCAATGAGTGCAAACTGG
AAGTACTTGATAAATCTTTGTGGTATGGATTTTCCCATTAAAACCAACCTAGAAATTGTCAGGAAGCTCAAGTTGTTAATGGGAGAAAACAACCTGGAAACGGAG
AGGATGCCATCCCATAAAGAAGAAAGGTGGAAGAAGCGGTATGAGGTCGTTAATGGAAAGCTGACAAACACAGGGACTGTCAAAATGCTTCCTCCACTCGAAACA
CCTCTCTTTTCTGGCAGTGCCTACTTCGTGGTCAGTAGGGAGTATGTGGGGTATGTACTACAGAATGAAAAAATCCAAAAGTTGATGGAGTGGGCACAAGACACA
TACAGCCCTGATGAGTATCTCTGGGCCACCATCCAAAGGATTCCTGAAGTCCCGGGCTCACTCCCTGCCAGCCATAAGTATGATCTGTCTGACATGCAAGCAGTT
GCCAGGTTTGTCAAGTGGCAGTACTTTGAGGGTGATGTTTCCAAGGGTGCTCCCTACCCGCCCTGCGATGGAGTCCATGTGCGCTCAGTGTGCATTTTCGGAGCT
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>GCNT1|2650|protein
MLRTLLRRRLFSYPTKYYFMVLVLSLITFSVLRIHQKPEFVSVRHLELAGENPSSDINCTKVLQGDVNEIQKVKLEILTVKFKKRPRWTPDDYINMTSDCSSFIK
RRKYIVEPLSKEEAEFPIAYSIVVHHKIEMLDRLLRAIYMPQNFYCIHVDTKSEDSYLAAVMGIASCFSNVFVASRLESVVYASWSRVQADLNCMKDLYAMSANW
KYLINLCGMDFPIKTNLEIVRKLKLLMGENNLETERMPSHKEERWKKRYEVVNGKLTNTGTVKMLPPLETPLFSGSAYFVVSREYVGYVLQNEKIQKLMEWAQDT
YSPDEYLWATIQRIPEVPGSLPASHKYDLSDMQAVARFVKWQYFEGDVSKGAPYPPCDGVHVRSVCIFGAGDLNWMLRKHHLFANKFDVDVDLFAIQCLDEHLRH
KALETLKH
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MLRTLLRRRLFSYPTKYYFMVLVLSLITFSVLRIHQKPEFVSVRHLELAGENPSSDINCTKVLQGDVNEIQKVKLEILTVKFKKRPRWTPDDYINMTSDCSSFIK
RRKYIVEPLSKEEAEFPIAYSIVVHHKIEMLDRLLRAIYMPQNFYCIHVDTKSEDSYLAAVMGIASCFSNVFVASRLESVVYASWSRVQADLNCMKDLYAMSANW
KYLINLCGMDFPIKTNLEIVRKLKLLMGENNLETERMPSHKEERWKKRYEVVNGKLTNTGTVKMLPPLETPLFSGSAYFVVSREYVGYVLQNEKIQKLMEWAQDT
YSPDEYLWATIQRIPEVPGSLPASHKYDLSDMQAVARFVKWQYFEGDVSKGAPYPPCDGVHVRSVCIFGAGDLNWMLRKHHLFANKFDVDVDLFAIQCLDEHLRH
KALETLKH
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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 | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) | | | autism with nonaffected sib pairs | autism | 17 (-) |
1.14 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.