Evidence Details for GCNT2
Basic Information Top
| Gene Symbol: | GCNT2 ( CCAT,GCNT2C,GCNT5,IGNT,II,MGC163396,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1 ) |
|---|---|
| Gene Full Name: | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
| Band: | 6p24.3-p24.2 |
| Quick Links | Entrez ID:2651; OMIM: 600429; Uniprot ID:GNT2A_HUMAN; ENSEMBL ID: ENSG00000111846; HGNC ID: 4204 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GCNT2|2651|nucleotide
ATGCCTTTATCAATGCGTTACCTCTTCATAATTTCTGTCTCTAGTGTAATTATTTTTATCGTCTTCTCTGTGTTCAATTTTGGGGGAGATCCAAGCTTCCAAAGG
CTAAATATCTCAGACCCTTTGAGGCTGACTCAAGTTTGCACATCTTTTATCAATGGAAAAACACGTTTCCTGTGGAAAAACAAACTAATGATCCATGAGAAGTCT
TCTTGCAAGGAATACTTGACCCAGAGCCACTACATCACAGCCCCTTTATCTAAGGAAGAAGCTGACTTTCCCTTGGCATATATAATGGTCATCCATCATCACTTT
GACACCTTTGCAAGGCTCTTCAGGGCTATTTACATGCCCCAAAATATCTACTGTGTTCATGTGGATGAAAAAGCAACAACTGAATTTAAAGATGCGGTAGAGCAA
CTATTAAGCTGCTTCCCAAACGCTTTTCTGGCTTCCAAGATGGAACCCGTTGTCTATGGAGGGATCTCCAGGCTCCAGGCTGACCTGAACTGCATCAGAGATCTT
TCTGCCTTCGAGGTCTCATGGAAGTACGTTATCAACACCTGTGGGCAAGACTTCCCCCTGAAAACCAACAAGGAAATAGTTCAGTATCTGAAAGGATTTAAAGGT
AAAAATATCACCCCAGGGGTGCTGCCCCCAGCTCATGCAATTGGACGGACTAAATATGTCCACCAAGAGCACCTGGGCAAAGAGCTTTCCTATGTGATAAGAACA
ACAGCGTTGAAACCGCCTCCCCCCCATAATCTCACAATTTACTTTGGCTCTGCCTATGTGGCTCTATCAAGAGAGTTTGCCAACTTTGTTCTGCATGACCCACGG
GCTGTTGATTTGCTCCAGTGGTCCAAGGACACTTTCAGTCCTGATGAGCATTTCTGGGTGACACTCAATAGGATTCCAGGTGTTCCTGGCTCTATGCCAAATGCA
TCCTGGACTGGAAACCTCAGAGCTATAAAGTGGAGTGACATGGAAGACAGACACGGAGGCTGCCACGGCCACTATGTACATGGTATTTGTATCTATGGAAACGGA
GACTTAAAGTGGCTGGTTAATTCACCAAGCCTGTTTGCTAACAAGTTTGAGCTTAATACCTACCCCCTTACTGTGGAATGCCTAGAACTGAGGCATCGCGAAAGA
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ATGCCTTTATCAATGCGTTACCTCTTCATAATTTCTGTCTCTAGTGTAATTATTTTTATCGTCTTCTCTGTGTTCAATTTTGGGGGAGATCCAAGCTTCCAAAGG
CTAAATATCTCAGACCCTTTGAGGCTGACTCAAGTTTGCACATCTTTTATCAATGGAAAAACACGTTTCCTGTGGAAAAACAAACTAATGATCCATGAGAAGTCT
TCTTGCAAGGAATACTTGACCCAGAGCCACTACATCACAGCCCCTTTATCTAAGGAAGAAGCTGACTTTCCCTTGGCATATATAATGGTCATCCATCATCACTTT
GACACCTTTGCAAGGCTCTTCAGGGCTATTTACATGCCCCAAAATATCTACTGTGTTCATGTGGATGAAAAAGCAACAACTGAATTTAAAGATGCGGTAGAGCAA
CTATTAAGCTGCTTCCCAAACGCTTTTCTGGCTTCCAAGATGGAACCCGTTGTCTATGGAGGGATCTCCAGGCTCCAGGCTGACCTGAACTGCATCAGAGATCTT
TCTGCCTTCGAGGTCTCATGGAAGTACGTTATCAACACCTGTGGGCAAGACTTCCCCCTGAAAACCAACAAGGAAATAGTTCAGTATCTGAAAGGATTTAAAGGT
AAAAATATCACCCCAGGGGTGCTGCCCCCAGCTCATGCAATTGGACGGACTAAATATGTCCACCAAGAGCACCTGGGCAAAGAGCTTTCCTATGTGATAAGAACA
ACAGCGTTGAAACCGCCTCCCCCCCATAATCTCACAATTTACTTTGGCTCTGCCTATGTGGCTCTATCAAGAGAGTTTGCCAACTTTGTTCTGCATGACCCACGG
GCTGTTGATTTGCTCCAGTGGTCCAAGGACACTTTCAGTCCTGATGAGCATTTCTGGGTGACACTCAATAGGATTCCAGGTGTTCCTGGCTCTATGCCAAATGCA
TCCTGGACTGGAAACCTCAGAGCTATAAAGTGGAGTGACATGGAAGACAGACACGGAGGCTGCCACGGCCACTATGTACATGGTATTTGTATCTATGGAAACGGA
GACTTAAAGTGGCTGGTTAATTCACCAAGCCTGTTTGCTAACAAGTTTGAGCTTAATACCTACCCCCTTACTGTGGAATGCCTAGAACTGAGGCATCGCGAAAGA
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>GCNT2|2651|protein
MPLSMRYLFIISVSSVIIFIVFSVFNFGGDPSFQRLNISDPLRLTQVCTSFINGKTRFLWKNKLMIHEKSSCKEYLTQSHYITAPLSKEEADFPLAYIMVIHHHF
DTFARLFRAIYMPQNIYCVHVDEKATTEFKDAVEQLLSCFPNAFLASKMEPVVYGGISRLQADLNCIRDLSAFEVSWKYVINTCGQDFPLKTNKEIVQYLKGFKG
KNITPGVLPPAHAIGRTKYVHQEHLGKELSYVIRTTALKPPPPHNLTIYFGSAYVALSREFANFVLHDPRAVDLLQWSKDTFSPDEHFWVTLNRIPGVPGSMPNA
SWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF
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MPLSMRYLFIISVSSVIIFIVFSVFNFGGDPSFQRLNISDPLRLTQVCTSFINGKTRFLWKNKLMIHEKSSCKEYLTQSHYITAPLSKEEADFPLAYIMVIHHHF
DTFARLFRAIYMPQNIYCVHVDEKATTEFKDAVEQLLSCFPNAFLASKMEPVVYGGISRLQADLNCIRDLSAFEVSWKYVINTCGQDFPLKTNKEIVQYLKGFKG
KNITPGVLPPAHAIGRTKYVHQEHLGKELSYVIRTTALKPPPPHNLTIYFGSAYVALSREFANFVLHDPRAVDLLQWSKDTFSPDEHFWVTLNRIPGVPGSMPNA
SWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF
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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 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 12 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV 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 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top