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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for BCHE |
 Gene summary |
| Gene information | Gene symbol | BCHE | Gene ID | 590 |
| Gene name | butyrylcholinesterase | |
| Synonyms | BCHED|CHE1|CHE2|E1 | |
| Cytomap | 3q26.1 | |
| Type of gene | protein-coding | |
| Description | cholinesteraseacylcholine acylhydrolasebutyrylcholine esterasecholine esterase IIcholinesterase (serum) 2cholinesterase 1pseudocholinesterase | |
| Modification date | 20180519 | |
| UniProtAcc | P06276 | |
| Context | PubMed: BCHE [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for BCHE from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for BCHE |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for BCHE |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389722 | 3 | 165490871:165491294:165495504:165495583:165503932:165504016 | 165495504:165495583 | ENSG00000114200.5 | ENST00000497011.1 |
| exon_skip_389726 | 3 | 165490871:165491294:165503932:165504099:165547304:165548829 | 165503932:165504099 | ENSG00000114200.5 | ENST00000264381.3 |
| exon_skip_389732 | 3 | 165503932:165504099:165545773:165545857:165547304:165547443 | 165545773:165545857 | ENSG00000114200.5 | ENST00000482958.1 |
| exon_skip_389735 | 3 | 165503932:165504099:165547304:165548829:165555101:165555208 | 165547304:165548829 | ENSG00000114200.5 | ENST00000497011.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCHE |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389722 | 3 | 165490871:165491294:165495504:165495583:165503932:165504016 | 165495504:165495583 | ENSG00000114200.5 | ENST00000497011.1 |
| exon_skip_389726 | 3 | 165490871:165491294:165503932:165504099:165547304:165548829 | 165503932:165504099 | ENSG00000114200.5 | ENST00000264381.3 |
| exon_skip_389732 | 3 | 165503932:165504099:165545773:165545857:165547304:165547443 | 165545773:165545857 | ENSG00000114200.5 | ENST00000482958.1 |
| exon_skip_389735 | 3 | 165503932:165504099:165547304:165548829:165555101:165555208 | 165547304:165548829 | ENSG00000114200.5 | ENST00000497011.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for BCHE |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000264381 | 165503932 | 165504099 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000264381 | 165503932 | 165504099 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BCHE |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for BCHE |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
BCHE_LIHC_exon_skip_389735_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_389726 | 165503933 | 165504099 | 165503955 | 165503955 | Frame_Shift_Del | A | - | p.F554fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_389735 | 165547305 | 165548829 | 165547316 | 165547316 | Frame_Shift_Del | A | - | p.F502fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_389735 | 165547305 | 165548829 | 165547320 | 165547320 | Frame_Shift_Del | T | - | p.N501fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_389735 | 165547305 | 165548829 | 165547446 | 165547446 | Frame_Shift_Del | G | - | p.P459fs |
| CHOL | TCGA-W5-AA38-01 | exon_skip_389735 | 165547305 | 165548829 | 165547680 | 165547680 | Frame_Shift_Del | C | - | p.G381fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_389735 | 165547305 | 165548829 | 165547721 | 165547721 | Frame_Shift_Del | T | - | p.K367fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_389735 | 165547305 | 165548829 | 165547749 | 165547749 | Frame_Shift_Del | A | - | p.L358fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_389735 | 165547305 | 165548829 | 165547795 | 165547795 | Frame_Shift_Del | T | - | p.T343fs |
| STAD | TCGA-F1-6874-01 | exon_skip_389735 | 165547305 | 165548829 | 165547795 | 165547795 | Frame_Shift_Del | T | - | p.T343fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_389735 | 165547305 | 165548829 | 165547795 | 165547795 | Frame_Shift_Del | T | - | p.T343fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_389735 | 165547305 | 165548829 | 165547909 | 165547915 | Frame_Shift_Del | CTTCATT | - | p.303_305del |
| KIRC | TCGA-AS-3778-01 | exon_skip_389735 | 165547305 | 165548829 | 165547909 | 165547915 | Frame_Shift_Del | CTTCATT | - | p.NEA303fs |
| BLCA | TCGA-DK-AA6U-01 | exon_skip_389735 | 165547305 | 165548829 | 165548141 | 165548141 | Frame_Shift_Del | T | - | p.A227fs |
| COAD | TCGA-AD-6964-01 | exon_skip_389735 | 165547305 | 165548829 | 165548196 | 165548196 | Frame_Shift_Del | T | - | p.N209fs |
| STAD | TCGA-HU-8602-01 | exon_skip_389735 | 165547305 | 165548829 | 165548196 | 165548196 | Frame_Shift_Del | T | - | p.N209fs |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_389735 | 165547305 | 165548829 | 165548196 | 165548196 | Frame_Shift_Del | T | - | p.N209fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_389735 | 165547305 | 165548829 | 165548296 | 165548296 | Frame_Shift_Del | C | - | p.V176fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_389735 | 165547305 | 165548829 | 165548429 | 165548429 | Frame_Shift_Del | T | - | p.K131fs |
| STAD | TCGA-BR-7851-01 | exon_skip_389735 | 165547305 | 165548829 | 165548598 | 165548599 | Frame_Shift_Del | TG | - | p.75_75del |
| STAD | TCGA-BR-7851-01 | exon_skip_389735 | 165547305 | 165548829 | 165548598 | 165548599 | Frame_Shift_Del | TG | - | p.Q75fs |
| LUAD | TCGA-62-A46R-01 | exon_skip_389735 | 165547305 | 165548829 | 165547504 | 165547505 | Frame_Shift_Ins | - | T | p.EG439fs |
| SKCM | TCGA-D3-A8GM-06 | exon_skip_389735 | 165547305 | 165548829 | 165547663 | 165547664 | Frame_Shift_Ins | - | A | p.R387fs |
| COAD | TCGA-AD-6889-01 | exon_skip_389735 | 165547305 | 165548829 | 165547794 | 165547795 | Frame_Shift_Ins | - | T | p.T343fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_389735 | 165547305 | 165548829 | 165547794 | 165547795 | Frame_Shift_Ins | - | T | p.P343fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_389735 | 165547305 | 165548829 | 165547794 | 165547795 | Frame_Shift_Ins | - | T | p.T343fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_389735 | 165547305 | 165548829 | 165548195 | 165548196 | Frame_Shift_Ins | - | T | p.N209fs |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_389735 | 165547305 | 165548829 | 165548603 | 165548604 | Frame_Shift_Ins | - | T | p.K73fs |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_389735 | 165547305 | 165548829 | 165548603 | 165548604 | Frame_Shift_Ins | - | T | p.P74fs |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_389735 | 165547305 | 165548829 | 165548603 | 165548604 | Frame_Shift_Ins | - | T | p.T73fs |
| HNSC | TCGA-D6-6516-01 | exon_skip_389726 | 165503933 | 165504099 | 165503942 | 165503942 | Nonsense_Mutation | C | A | p.E559* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_389726 | 165503933 | 165504099 | 165503967 | 165503967 | Nonsense_Mutation | C | T | p.W550* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_389726 | 165503933 | 165504099 | 165503967 | 165503967 | Nonsense_Mutation | C | T | p.W550X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_389726 | 165503933 | 165504099 | 165503968 | 165503968 | Nonsense_Mutation | C | T | p.W550* |
| BRCA | TCGA-BH-A18I-01 | exon_skip_389726 | 165503933 | 165504099 | 165504044 | 165504044 | Nonsense_Mutation | C | A | p.E525* |
| UCEC | TCGA-AP-A051-01 | exon_skip_389735 | 165547305 | 165548829 | 165547333 | 165547333 | Nonsense_Mutation | T | A | p.K497* |
| STAD | TCGA-D7-A4YV-01 | exon_skip_389735 | 165547305 | 165548829 | 165547357 | 165547357 | Nonsense_Mutation | C | A | p.E489* |
| STAD | TCGA-D7-A4YV-01 | exon_skip_389735 | 165547305 | 165548829 | 165547357 | 165547357 | Nonsense_Mutation | C | A | p.E489X |
| UCEC | TCGA-AP-A051-01 | exon_skip_389735 | 165547305 | 165548829 | 165547468 | 165547468 | Nonsense_Mutation | G | A | p.R452* |
| LUAD | TCGA-55-7281-01 | exon_skip_389735 | 165547305 | 165548829 | 165547481 | 165547481 | Nonsense_Mutation | G | T | p.Y447* |
| COAD | TCGA-D5-6927-01 | exon_skip_389735 | 165547305 | 165548829 | 165547687 | 165547687 | Nonsense_Mutation | G | A | p.Q379X |
| ESCA | TCGA-R6-A6L4-01 | exon_skip_389735 | 165547305 | 165548829 | 165547693 | 165547693 | Nonsense_Mutation | C | A | p.E377* |
| ESCA | TCGA-R6-A6L4-01 | exon_skip_389735 | 165547305 | 165548829 | 165547693 | 165547693 | Nonsense_Mutation | C | A | p.E377X |
| LUAD | TCGA-55-8094-01 | exon_skip_389735 | 165547305 | 165548829 | 165547892 | 165547892 | Nonsense_Mutation | A | T | p.Y310* |
| LUAD | TCGA-67-4679-01 | exon_skip_389735 | 165547305 | 165548829 | 165548104 | 165548104 | Nonsense_Mutation | C | A | p.G240* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_389735 | 165547305 | 165548829 | 165548402 | 165548402 | Nonsense_Mutation | C | T | p.W140* |
| LUAD | TCGA-50-6590-01 | exon_skip_389735 | 165547305 | 165548829 | 165548502 | 165548502 | Nonsense_Mutation | G | T | p.S107* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_389735 | 165547305 | 165548829 | 165548830 | 165548830 | Splice_Site | C | A | e1-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_389735 | |
| Skipped exon start: 165547305 | |
| Skipped exon end: 165548829 | |
| Mutation start: 165547795 | |
| Mutation end: 165547795 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.T343fs | |
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_375133_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_375393_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_376191_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_378801_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_382119_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_382121_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_382417_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_382738_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_387826_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_433655_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_436494_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_450419_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_460515_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_472524_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_472955_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_475132_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_47552_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_478926_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_487634_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_490603_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_491406_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_492075_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_492152_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_493904_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_493918_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_493920_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_494000_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_494030_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_494170_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_494284_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_499522_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_503593_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_503665_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_504513_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_507316_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_507513_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_50803_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_50804_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_510119_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_513207_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_513240_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_5141_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_52393_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_54542_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_55185_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_56398_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_56399_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_56834_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_58444_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_58452_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_5861_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_60290_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_60294_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_60561_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_61147_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_6331_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_6399_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_64652_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_64657_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_65996_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_66666_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_67549_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_68080_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_6817_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_69250_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_70509_LIHC_TCGA-DD-A39Y-01.png | |
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exon_skip_71774_LIHC_TCGA-DD-A39Y-01.png | |
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| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| TT_OESOPHAGUS | 165547305 | 165548829 | 165547474 | 165547474 | Frame_Shift_Del | C | - | p.E450fs |
| SNUC4_LARGE_INTESTINE | 165547305 | 165548829 | 165547795 | 165547795 | Frame_Shift_Del | T | - | p.T343fs |
| GIMEN_AUTONOMIC_GANGLIA | 165547305 | 165548829 | 165548166 | 165548166 | Frame_Shift_Del | C | - | p.S219fs |
| RL952_ENDOMETRIUM | 165547305 | 165548829 | 165548196 | 165548196 | Frame_Shift_Del | T | - | p.N209fs |
| NCIH2342_LUNG | 165547305 | 165548829 | 165548246 | 165548246 | Frame_Shift_Del | C | - | p.G192fs |
| SCABER_URINARY_TRACT | 165547305 | 165548829 | 165548391 | 165548391 | Frame_Shift_Del | C | - | p.G145fs |
| EN_ENDOMETRIUM | 165503933 | 165504099 | 165503954 | 165503955 | Frame_Shift_Ins | - | A | p.P555fs |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165547319 | 165547320 | Frame_Shift_Ins | - | T | p.N501fs |
| A2780_OVARY | 165503933 | 165504099 | 165503950 | 165503950 | Missense_Mutation | T | C | p.K556R |
| CORL23_LUNG | 165503933 | 165504099 | 165503989 | 165503989 | Missense_Mutation | C | T | p.R543H |
| CORL88_LUNG | 165503933 | 165504099 | 165503990 | 165503990 | Missense_Mutation | G | A | p.R543C |
| SKCO1_LARGE_INTESTINE | 165503933 | 165504099 | 165504014 | 165504014 | Missense_Mutation | A | T | p.S535T |
| TT_OESOPHAGUS | 165503933 | 165504099 | 165504037 | 165504037 | Missense_Mutation | T | A | p.K527I |
| LOUNH91_LUNG | 165503933 | 165504099 | 165504049 | 165504049 | Missense_Mutation | C | A | p.S523I |
| CW2_LARGE_INTESTINE | 165503933 | 165504099 | 165504073 | 165504073 | Missense_Mutation | C | T | p.S515N |
| NCIH2172_LUNG | 165547305 | 165548829 | 165547344 | 165547344 | Missense_Mutation | C | A | p.R493I |
| OVISE_OVARY | 165547305 | 165548829 | 165547349 | 165547349 | Missense_Mutation | C | A | p.L491F |
| NCIH2342_LUNG | 165547305 | 165548829 | 165547368 | 165547368 | Missense_Mutation | G | T | p.T485K |
| SNU410_PANCREAS | 165547305 | 165548829 | 165547393 | 165547393 | Missense_Mutation | G | C | p.P477A |
| NCCSTCK140_STOMACH | 165547305 | 165548829 | 165547455 | 165547455 | Missense_Mutation | A | C | p.L456R |
| CW2_LARGE_INTESTINE | 165547305 | 165548829 | 165547483 | 165547483 | Missense_Mutation | A | G | p.Y447H |
| KYSE30_OESOPHAGUS | 165547305 | 165548829 | 165547509 | 165547509 | Missense_Mutation | G | A | p.S438L |
| SNU719_STOMACH | 165547305 | 165548829 | 165547527 | 165547527 | Missense_Mutation | T | A | p.E432V |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 165547305 | 165548829 | 165547564 | 165547564 | Missense_Mutation | C | T | p.V420I |
| CORL311_LUNG | 165547305 | 165548829 | 165547596 | 165547596 | Missense_Mutation | C | A | p.R409I |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165547650 | 165547650 | Missense_Mutation | T | C | p.E391G |
| PK59_PANCREAS | 165547305 | 165548829 | 165547717 | 165547717 | Missense_Mutation | T | A | p.N369Y |
| NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165547741 | 165547741 | Missense_Mutation | C | A | p.G361C |
| BT474_BREAST | 165547305 | 165548829 | 165547768 | 165547768 | Missense_Mutation | C | G | p.D352H |
| LU99_LUNG | 165547305 | 165548829 | 165547813 | 165547813 | Missense_Mutation | G | T | p.L337I |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165547847 | 165547847 | Missense_Mutation | A | T | p.D325E |
| MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165547879 | 165547879 | Missense_Mutation | A | G | p.S315P |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165547936 | 165547936 | Missense_Mutation | C | T | p.D296N |
| CORL23_LUNG | 165547305 | 165548829 | 165547956 | 165547956 | Missense_Mutation | A | G | p.I289T |
| HCC1143_BREAST | 165547305 | 165548829 | 165548026 | 165548026 | Missense_Mutation | C | T | p.E266K |
| SNU1040_LARGE_INTESTINE | 165547305 | 165548829 | 165548043 | 165548043 | Missense_Mutation | G | A | p.A260V |
| NCIH1373_LUNG | 165547305 | 165548829 | 165548079 | 165548079 | Missense_Mutation | G | A | p.A248V |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548090 | 165548090 | Missense_Mutation | C | A | p.L244F |
| SNU119_OVARY | 165547305 | 165548829 | 165548114 | 165548114 | Missense_Mutation | C | A | p.L236F |
| SKPNDW_BONE | 165547305 | 165548829 | 165548146 | 165548146 | Missense_Mutation | T | C | p.S226G |
| LCLC97TM1_LUNG | 165547305 | 165548829 | 165548172 | 165548172 | Missense_Mutation | G | T | p.P217H |
| PANC1005_PANCREAS | 165547305 | 165548829 | 165548197 | 165548197 | Missense_Mutation | T | A | p.N209Y |
| TT_OESOPHAGUS | 165547305 | 165548829 | 165548254 | 165548254 | Missense_Mutation | C | A | p.A190S |
| TT_OESOPHAGUS | 165547305 | 165548829 | 165548257 | 165548257 | Missense_Mutation | C | T | p.E189K |
| CHL1_SKIN | 165547305 | 165548829 | 165548260 | 165548260 | Missense_Mutation | G | A | p.P188S |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548337 | 165548337 | Missense_Mutation | G | T | p.A162D |
| CAL29_URINARY_TRACT | 165547305 | 165548829 | 165548376 | 165548376 | Missense_Mutation | C | T | p.G149E |
| NCIH358_LUNG | 165547305 | 165548829 | 165548436 | 165548436 | Missense_Mutation | G | A | p.A129V |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548444 | 165548444 | Missense_Mutation | C | G | p.W126C |
| GP5D_LARGE_INTESTINE | 165547305 | 165548829 | 165548459 | 165548459 | Missense_Mutation | T | G | p.L121F |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548479 | 165548479 | Missense_Mutation | C | G | p.D115H |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548503 | 165548503 | Missense_Mutation | A | G | p.S107P |
| ESS1_ENDOMETRIUM | 165547305 | 165548829 | 165548547 | 165548547 | Missense_Mutation | G | T | p.S92Y |
| ES1_BONE | 165547305 | 165548829 | 165548548 | 165548548 | Missense_Mutation | A | C | p.S92A |
| T3M10_LUNG | 165547305 | 165548829 | 165548566 | 165548566 | Missense_Mutation | C | A | p.A86S |
| NCIH650_LUNG | 165547305 | 165548829 | 165548595 | 165548595 | Missense_Mutation | G | T | p.S76Y |
| NCIH1770_LUNG | 165547305 | 165548829 | 165548613 | 165548613 | Missense_Mutation | C | T | p.R70Q |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548737 | 165548737 | Missense_Mutation | C | T | p.E29K |
| SNU324_PANCREAS | 165547305 | 165548829 | 165548751 | 165548751 | Missense_Mutation | C | T | p.G24E |
| SNU1040_LARGE_INTESTINE | 165547305 | 165548829 | 165548751 | 165548751 | Missense_Mutation | C | T | p.G24E |
| JHUEM7_ENDOMETRIUM | 165547305 | 165548829 | 165548773 | 165548773 | Missense_Mutation | G | T | p.L17I |
| SNU81_LARGE_INTESTINE | 165547305 | 165548829 | 165548785 | 165548785 | Missense_Mutation | G | T | p.L13I |
| NCIH1435_LUNG | 165503933 | 165504099 | 165503968 | 165503968 | Nonsense_Mutation | C | T | p.W550* |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548403 | 165548403 | Nonsense_Mutation | C | T | p.W140* |
| NCIH2342_LUNG | 165547305 | 165548829 | 165548587 | 165548587 | Nonsense_Mutation | T | A | p.K79* |
| JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165547305 | 165548829 | 165548614 | 165548614 | Nonsense_Mutation | G | A | p.R70* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCHE |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCHE |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCHE |
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RelatedDrugs for BCHE |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P06276 | DB00449 | Dipivefrin | Cholinesterase | small molecule | approved | |
| P06276 | DB00674 | Galantamine | Cholinesterase | small molecule | approved | |
| P06276 | DB00863 | Ranitidine | Cholinesterase | small molecule | approved | |
| P06276 | DB00941 | Hexafluronium | Cholinesterase | small molecule | approved | |
| P06276 | DB00944 | Demecarium | Cholinesterase | small molecule | approved | |
| P06276 | DB01057 | Echothiophate | Cholinesterase | small molecule | approved | |
| P06276 | DB01226 | Mivacurium | Cholinesterase | small molecule | approved | |
| P06276 | DB00545 | Pyridostigmine | Cholinesterase | small molecule | approved|investigational | |
| P06276 | DB00772 | Malathion | Cholinesterase | small molecule | approved|investigational | |
| P06276 | DB00989 | Rivastigmine | Cholinesterase | small molecule | approved|investigational | |
| P06276 | DB00382 | Tacrine | Cholinesterase | small molecule | approved|investigational|withdrawn | |
| P06276 | DB14006 | Choline salicylate | Cholinesterase | small molecule | approved|nutraceutical | |
| P06276 | DB00733 | Pralidoxime | Cholinesterase | small molecule | approved|vet_approved | |
| P06276 | DB01221 | Ketamine | Cholinesterase | small molecule | approved|vet_approved |
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RelatedDiseases for BCHE |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BCHE | C0003578 | Apnea | 31 | CTD_human |
| BCHE | C0522224 | Paralysed | 10 | CTD_human |
| BCHE | C0236736 | Cocaine-Related Disorders | 8 | CTD_human |
| BCHE | C0700359 | Organophosphate poisoning | 7 | CTD_human |
| BCHE | C1283400 | Butyrylcholinesterase deficiency | 5 | CTD_human;ORPHANET |
| BCHE | C0028754 | Obesity | 4 | CTD_human |
| BCHE | C0036572 | Seizures | 3 | CTD_human |
| BCHE | C0009241 | Cognition Disorders | 2 | CTD_human |
| BCHE | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| BCHE | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| BCHE | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| BCHE | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| BCHE | C0014549 | Tonic-Clonic Epilepsy | 1 | CTD_human |
| BCHE | C0015644 | Muscular fasciculation | 1 | CTD_human |
| BCHE | C0017636 | Glioblastoma | 1 | CTD_human |
| BCHE | C0020557 | Hypertriglyceridemia | 1 | CTD_human |
| BCHE | C0026769 | Multiple Sclerosis | 1 | CTD_human |
| BCHE | C0026850 | Muscular Dystrophy | 1 | CTD_human |
| BCHE | C0027819 | Neuroblastoma | 1 | CTD_human |
| BCHE | C0030552 | Paresis | 1 | CTD_human |
| BCHE | C0032787 | Postoperative Complications | 1 | CTD_human |
| BCHE | C0037315 | Sleep Apnea Syndromes | 1 | CTD_human |
| BCHE | C0039231 | Tachycardia | 1 | CTD_human |
| BCHE | C0041105 | Trismus | 1 | CTD_human |
| BCHE | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| BCHE | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| BCHE | C0424295 | Hyperactive behavior | 1 | CTD_human |
| BCHE | C0876994 | Cardiotoxicity | 1 | CTD_human |
| BCHE | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| BCHE | C1855794 | Bamforth syndrome | 1 | CTD_human |
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