Evidence Details for HMGB1


Gene Symbol: | HMGB1 ( DKFZp686A04236,HMG1,HMG3,SBP-1 ) |
---|---|
Gene Full Name: | high-mobility group box 1 |
Band: | 13q12.3 |
Quick Links | Entrez ID:3146; OMIM: 163905; Uniprot ID:HMGB1_HUMAN; ENSEMBL ID: ENSG00000189403; HGNC ID: 4983 |
Relate to Another Database: | SFARIGene; denovo-db |


>HMGB1|3146|nucleotide
ATGGGCAAAGGAGATCCTAAGAAGCCGAGAGGCAAAATGTCATCATATGCATTTTTTGTGCAAACTTGTCGGGAGGAGCATAAGAAGAAGCACCCAGATGCTTCA
GTCAACTTCTCAGAGTTTTCTAAGAAGTGCTCAGAGAGGTGGAAGACCATGTCTGCTAAAGAGAAAGGAAAATTTGAAGATATGGCAAAAGCGGACAAGGCCCGT
TATGAAAGAGAAATGAAAACCTATATCCCTCCCAAAGGGGAGACAAAAAAGAAGTTCAAGGATCCCAATGCACCCAAGAGGCCTCCTTCGGCCTTCTTCCTCTTC
TGCTCTGAGTATCGCCCAAAAATCAAAGGAGAACATCCTGGCCTGTCCATTGGTGATGTTGCGAAGAAACTGGGAGAGATGTGGAATAACACTGCTGCAGATGAC
AAGCAGCCTTATGAAAAGAAGGCTGCGAAGCTGAAGGAAAAATACGAAAAGGATATTGCTGCATATCGAGCTAAAGGAAAGCCTGATGCAGCAAAAAAGGGAGTT
GTCAAGGCTGAAAAAAGCAAGAAAAAGAAGGAAGAGGAGGAAGATGAGGAAGATGAAGAGGATGAGGAGGAGGAGGAAGATGAAGAAGATGAAGATGAAGAAGAA
GATGATGATGATGAATAA
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ATGGGCAAAGGAGATCCTAAGAAGCCGAGAGGCAAAATGTCATCATATGCATTTTTTGTGCAAACTTGTCGGGAGGAGCATAAGAAGAAGCACCCAGATGCTTCA
GTCAACTTCTCAGAGTTTTCTAAGAAGTGCTCAGAGAGGTGGAAGACCATGTCTGCTAAAGAGAAAGGAAAATTTGAAGATATGGCAAAAGCGGACAAGGCCCGT
TATGAAAGAGAAATGAAAACCTATATCCCTCCCAAAGGGGAGACAAAAAAGAAGTTCAAGGATCCCAATGCACCCAAGAGGCCTCCTTCGGCCTTCTTCCTCTTC
TGCTCTGAGTATCGCCCAAAAATCAAAGGAGAACATCCTGGCCTGTCCATTGGTGATGTTGCGAAGAAACTGGGAGAGATGTGGAATAACACTGCTGCAGATGAC
AAGCAGCCTTATGAAAAGAAGGCTGCGAAGCTGAAGGAAAAATACGAAAAGGATATTGCTGCATATCGAGCTAAAGGAAAGCCTGATGCAGCAAAAAAGGGAGTT
GTCAAGGCTGAAAAAAGCAAGAAAAAGAAGGAAGAGGAGGAAGATGAGGAAGATGAAGAGGATGAGGAGGAGGAGGAAGATGAAGAAGATGAAGATGAAGAAGAA
GATGATGATGATGAATAA
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>HMGB1|3146|protein
MGKGDPKKPRGKMSSYAFFVQTCREEHKKKHPDASVNFSEFSKKCSERWKTMSAKEKGKFEDMAKADKARYEREMKTYIPPKGETKKKFKDPNAPKRPPSAFFLF
CSEYRPKIKGEHPGLSIGDVAKKLGEMWNNTAADDKQPYEKKAAKLKEKYEKDIAAYRAKGKPDAAKKGVVKAEKSKKKKEEEEDEEDEEDEEEEEDEEDEDEEE
DDDDE
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MGKGDPKKPRGKMSSYAFFVQTCREEHKKKHPDASVNFSEFSKKCSERWKTMSAKEKGKFEDMAKADKARYEREMKTYIPPKGETKKKFKDPNAPKRPPSAFFLF
CSEYRPKIKGEHPGLSIGDVAKKLGEMWNNTAADDKQPYEKKAAKLKEKYEKDIAAYRAKGKPDAAKKGVVKAEKSKKKKEEEEDEEDEEDEEEEEDEEDEDEEE
DDDDE
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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 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 12 (4) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Smith, 2002 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Barrett, 1999 | USA | microsatellite-based genomic screen | ![]() | ![]() | autism | 75 | - | 75 | - | - | - | - |
Allen-Brady, 2010 | USA | SNP-based genomic screen | ![]() | ![]() | ASD | 40 | - | 40 | - | 192 | 461 | 653 |












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