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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 ALPK2 |
 Gene summary |
| Gene information | Gene symbol | ALPK2 | Gene ID | 115701 |
| Gene name | alpha kinase 2 | |
| Synonyms | HAK | |
| Cytomap | 18q21.31-q21.32 | |
| Type of gene | protein-coding | |
| Description | alpha-protein kinase 2heart alpha-kinaseheart alpha-protein kinase | |
| Modification date | 20180329 | |
| UniProtAcc | Q86TB3 | |
| Context | PubMed: ALPK2 [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 ALPK2 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 ALPK2 |
| 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 ALPK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_299523 | 18 | 56148478:56149271:56165280:56165329:56171162:56171380 | 56165280:56165329 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299536 | 18 | 56171162:56171380:56182224:56182313:56184139:56184414 | 56182224:56182313 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299538 | 18 | 56184139:56184414:56191037:56191073:56191166:56191289 | 56191037:56191073 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299539 | 18 | 56191166:56191294:56196322:56196470:56202065:56204351 | 56196322:56196470 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299542 | 18 | 56196322:56196470:56202065:56205456:56246045:56246256 | 56202065:56205456 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299546 | 18 | 56205371:56205456:56246045:56247780:56274553:56274671 | 56246045:56247780 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299548 | 18 | 56211837:56211907:56212245:56212450:56246045:56246256 | 56212245:56212450 | ENSG00000198796.6 | ENST00000587842.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ALPK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_299523 | 18 | 56148478:56149271:56165280:56165329:56171162:56171380 | 56165280:56165329 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299536 | 18 | 56171162:56171380:56182224:56182313:56184139:56184414 | 56182224:56182313 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299538 | 18 | 56184139:56184414:56191037:56191073:56191166:56191289 | 56191037:56191073 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299539 | 18 | 56191166:56191294:56196322:56196470:56202065:56204351 | 56196322:56196470 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299542 | 18 | 56196322:56196470:56202065:56205456:56246045:56246256 | 56202065:56205456 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299546 | 18 | 56205371:56205456:56246045:56247780:56274553:56274671 | 56246045:56247780 | ENSG00000198796.6 | ENST00000361673.3 |
| exon_skip_299548 | 18 | 56211837:56211907:56212245:56212450:56246045:56246256 | 56212245:56212450 | ENSG00000198796.6 | ENST00000587842.1 |
| 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 ALPK2 |
| 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 |
| ENST00000361673 | 56165280 | 56165329 | Frame-shift |
| ENST00000361673 | 56182224 | 56182313 | Frame-shift |
| ENST00000361673 | 56196322 | 56196470 | Frame-shift |
| ENST00000361673 | 56202065 | 56205456 | Frame-shift |
| ENST00000361673 | 56246045 | 56247780 | Frame-shift |
| ENST00000361673 | 56191037 | 56191073 | In-frame |
| 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 |
| ENST00000361673 | 56165280 | 56165329 | Frame-shift |
| ENST00000361673 | 56182224 | 56182313 | Frame-shift |
| ENST00000361673 | 56196322 | 56196470 | Frame-shift |
| ENST00000361673 | 56202065 | 56205456 | Frame-shift |
| ENST00000361673 | 56246045 | 56247780 | Frame-shift |
| ENST00000361673 | 56191037 | 56191073 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ALPK2 |
| 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 |
| ENST00000361673 | 7320 | 2170 | 56191037 | 56191073 | 5844 | 5879 | 1876 | 1888 |
| 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 |
| ENST00000361673 | 7320 | 2170 | 56191037 | 56191073 | 5844 | 5879 | 1876 | 1888 |
| 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 |
| Q86TB3 | 1876 | 1888 | 1 | 2170 | Chain | ID=PRO_0000260030;Note=Alpha-protein kinase 2 |
| Q86TB3 | 1876 | 1888 | 1884 | 1884 | Natural variant | ID=VAR_057742;Note=R->C;Dbxref=dbSNP:rs33969768 |
| 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 |
| Q86TB3 | 1876 | 1888 | 1 | 2170 | Chain | ID=PRO_0000260030;Note=Alpha-protein kinase 2 |
| Q86TB3 | 1876 | 1888 | 1884 | 1884 | Natural variant | ID=VAR_057742;Note=R->C;Dbxref=dbSNP:rs33969768 |
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SNVs in the skipped exons for ALPK2 |
| - 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. |
| - 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-DD-A39Y-01 | exon_skip_299539 | 56196323 | 56196470 | 56196355 | 56196355 | Frame_Shift_Del | T | - | p.K1823fs |
| GBM | TCGA-41-2572-01 | exon_skip_299542 | 56202066 | 56205456 | 56202092 | 56202092 | Frame_Shift_Del | T | - | p.K1776fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299542 | 56202066 | 56205456 | 56202092 | 56202092 | Frame_Shift_Del | T | - | p.K1776fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299542 | 56202066 | 56205456 | 56202224 | 56202224 | Frame_Shift_Del | A | - | p.L1732fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299542 | 56202066 | 56205456 | 56202328 | 56202328 | Frame_Shift_Del | T | - | p.K1697fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_299542 | 56202066 | 56205456 | 56202354 | 56202355 | Frame_Shift_Del | TC | - | p.1689_1689del |
| STAD | TCGA-CG-5721-01 | exon_skip_299542 | 56202066 | 56205456 | 56202354 | 56202355 | Frame_Shift_Del | TC | - | p.1689_1689del |
| STAD | TCGA-CG-5721-01 | exon_skip_299542 | 56202066 | 56205456 | 56202354 | 56202355 | Frame_Shift_Del | TC | - | p.K1689fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299542 | 56202066 | 56205456 | 56202653 | 56202653 | Frame_Shift_Del | C | - | p.G1589fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_299542 | 56202066 | 56205456 | 56203064 | 56203064 | Frame_Shift_Del | A | - | p.L1452fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_299542 | 56202066 | 56205456 | 56203064 | 56203064 | Frame_Shift_Del | A | - | p.L1452fs |
| LUSC | TCGA-22-4599-01 | exon_skip_299542 | 56202066 | 56205456 | 56203118 | 56203118 | Frame_Shift_Del | C | - | p.G1434fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299542 | 56202066 | 56205456 | 56203227 | 56203227 | Frame_Shift_Del | T | - | p.I1398fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_299542 | 56202066 | 56205456 | 56203542 | 56203542 | Frame_Shift_Del | T | - | p.I1293fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_299542 | 56202066 | 56205456 | 56203898 | 56203898 | Frame_Shift_Del | T | - | p.H1174fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299542 | 56202066 | 56205456 | 56203898 | 56203898 | Frame_Shift_Del | T | - | p.H1174fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_299542 | 56202066 | 56205456 | 56203913 | 56203913 | Frame_Shift_Del | A | - | p.L1169fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299542 | 56202066 | 56205456 | 56203974 | 56203974 | Frame_Shift_Del | A | - | p.S1149fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_299542 | 56202066 | 56205456 | 56203982 | 56203982 | Frame_Shift_Del | C | - | p.G1146fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299542 | 56202066 | 56205456 | 56204010 | 56204010 | Frame_Shift_Del | C | - | p.V1137fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_299542 | 56202066 | 56205456 | 56204249 | 56204249 | Frame_Shift_Del | A | - | p.L1057fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299542 | 56202066 | 56205456 | 56204249 | 56204249 | Frame_Shift_Del | A | - | p.L1057fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299542 | 56202066 | 56205456 | 56204257 | 56204257 | Frame_Shift_Del | T | - | p.Q1054fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299542 | 56202066 | 56205456 | 56204478 | 56204478 | Frame_Shift_Del | T | - | p.I981fs |
| LUAD | TCGA-05-4432-01 | exon_skip_299542 | 56202066 | 56205456 | 56204617 | 56204617 | Frame_Shift_Del | G | - | p.P934fs |
| COAD | TCGA-AD-5900-01 | exon_skip_299542 | 56202066 | 56205456 | 56205242 | 56205243 | Frame_Shift_Del | TC | - | p.726_726del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_299546 | 56246046 | 56247780 | 56246267 | 56246267 | Frame_Shift_Del | T | - | p.R581fs |
| LUAD | TCGA-44-8120-01 | exon_skip_299546 | 56246046 | 56247780 | 56246287 | 56246287 | Frame_Shift_Del | G | - | p.P574fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299546 | 56246046 | 56247780 | 56246419 | 56246419 | Frame_Shift_Del | C | - | p.G530fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299546 | 56246046 | 56247780 | 56246419 | 56246419 | Frame_Shift_Del | C | - | p.G530fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| COAD | TCGA-CM-6162-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| COAD | TCGA-G4-6309-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| COAD | TCGA-G4-6588-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| READ | TCGA-EI-6507-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| UCEC | TCGA-A5-A0GH-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| UCEC | TCGA-A5-A0GI-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| UCEC | TCGA-AX-A060-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| UCEC | TCGA-AX-A06H-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| UCEC | TCGA-B5-A11G-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| UCEC | TCGA-B5-A11J-01 | exon_skip_299546 | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299546 | 56246046 | 56247780 | 56246443 | 56246443 | Frame_Shift_Del | C | - | p.G522fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_299546 | 56246046 | 56247780 | 56246652 | 56246652 | Frame_Shift_Del | G | - | p.P452fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299546 | 56246046 | 56247780 | 56246911 | 56246911 | Frame_Shift_Del | A | - | p.F366fs |
| COAD | TCGA-A6-6780-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L356fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| PRAD | TCGA-J9-A52C-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L356fs |
| PRAD | TCGA-J9-A52C-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| STAD | TCGA-BR-4292-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L356fs |
| STAD | TCGA-BR-4370-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L356fs |
| STAD | TCGA-BR-7707-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L356fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L356fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_299546 | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L356fs |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_299542 | 56202066 | 56205456 | 56202539 | 56202540 | Frame_Shift_Ins | - | T | p.M1627fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_299546 | 56246046 | 56247780 | 56246441 | 56246442 | Frame_Shift_Ins | - | C | p.G523fs |
| LUAD | TCGA-44-2656-01 | exon_skip_299546 | 56246046 | 56247780 | 56246441 | 56246442 | Frame_Shift_Ins | - | C | p.G522fs |
| LUAD | TCGA-64-1678-01 | exon_skip_299546 | 56246046 | 56247780 | 56246441 | 56246442 | Frame_Shift_Ins | - | C | p.G522fs |
| PRAD | TCGA-CH-5769-01 | exon_skip_299546 | 56246046 | 56247780 | 56246441 | 56246442 | Frame_Shift_Ins | - | C | p.G523fs |
| PRAD | TCGA-CH-5769-01 | exon_skip_299546 | 56246046 | 56247780 | 56246441 | 56246442 | Frame_Shift_Ins | - | C | p.K523fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_299546 | 56246046 | 56247780 | 56246441 | 56246442 | Frame_Shift_Ins | - | C | p.G522fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_299546 | 56246046 | 56247780 | 56246441 | 56246442 | Frame_Shift_Ins | - | C | p.G522fs |
| BLCA | TCGA-ZF-A9RN-01 | exon_skip_299546 | 56246046 | 56247780 | 56246940 | 56246941 | Frame_Shift_Ins | - | A | p.L356fs |
| COAD | TCGA-CM-5861-01 | exon_skip_299546 | 56246046 | 56247780 | 56246940 | 56246941 | Frame_Shift_Ins | - | A | p.L356fs |
| HNSC | TCGA-CR-7388-01 | exon_skip_299542 | 56202066 | 56205456 | 56202141 | 56202141 | Nonsense_Mutation | T | A | p.K1760* |
| LUSC | TCGA-66-2771-01 | exon_skip_299542 | 56202066 | 56205456 | 56202164 | 56202164 | Nonsense_Mutation | G | C | p.S1752* |
| HNSC | TCGA-MZ-A7D7-01 | exon_skip_299542 | 56202066 | 56205456 | 56202447 | 56202447 | Nonsense_Mutation | C | A | p.G1658* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_299542 | 56202066 | 56205456 | 56204037 | 56204037 | Nonsense_Mutation | C | A | p.E1128* |
| SKCM | TCGA-3N-A9WC-06 | exon_skip_299542 | 56202066 | 56205456 | 56204461 | 56204461 | Nonsense_Mutation | C | T | p.W986* |
| SKCM | TCGA-3N-A9WC-06 | exon_skip_299542 | 56202066 | 56205456 | 56204462 | 56204462 | Nonsense_Mutation | C | T | p.W986* |
| LIHC | TCGA-DD-AAD2-01 | exon_skip_299542 | 56202066 | 56205456 | 56204804 | 56204804 | Nonsense_Mutation | G | T | p.S872X |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_299542 | 56202066 | 56205456 | 56205027 | 56205027 | Nonsense_Mutation | T | A | p.R798* |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_299542 | 56202066 | 56205456 | 56205027 | 56205027 | Nonsense_Mutation | T | A | p.R798X |
| LUSC | TCGA-66-2785-01 | exon_skip_299542 | 56202066 | 56205456 | 56205344 | 56205344 | Nonsense_Mutation | G | C | p.S692* |
| UCEC | TCGA-AP-A059-01 | exon_skip_299546 | 56246046 | 56247780 | 56246303 | 56246303 | Nonsense_Mutation | C | A | p.E569* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_299546 | 56246046 | 56247780 | 56247380 | 56247380 | Nonsense_Mutation | C | A | p.E210* |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_299546 | 56246046 | 56247780 | 56247584 | 56247584 | Nonsense_Mutation | C | A | p.E142* |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_299546 | 56246046 | 56247780 | 56247584 | 56247584 | Nonsense_Mutation | C | A | p.E142X |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_299546 | 56246046 | 56247780 | 56247608 | 56247608 | Nonsense_Mutation | C | A | p.E134* |
| ESCA | TCGA-L5-A4OX-01 | exon_skip_299546 | 56246046 | 56247780 | 56247745 | 56247745 | Nonsense_Mutation | G | T | p.S88X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH345_LUNG | 56202066 | 56205456 | 56202077 | 56202077 | Frame_Shift_Del | C | - | p.R1781fs |
| HCC1833_LUNG | 56202066 | 56205456 | 56202710 | 56202710 | Frame_Shift_Del | T | - | p.N1570fs |
| HEC6_ENDOMETRIUM | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| SNU175_LARGE_INTESTINE | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| AN3CA_ENDOMETRIUM | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| IGROV1_OVARY | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| JHUEM1_ENDOMETRIUM | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| SKUT1_SOFT_TISSUE | 56246046 | 56247780 | 56246440 | 56246440 | Frame_Shift_Del | T | - | p.K523fs |
| ES8_BONE | 56246046 | 56247780 | 56246741 | 56246741 | Frame_Shift_Del | A | - | p.S424fs |
| NCIH1048_LUNG | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| OC316_OVARY | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| OC314_OVARY | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| SNU1040_LARGE_INTESTINE | 56246046 | 56247780 | 56246941 | 56246941 | Frame_Shift_Del | A | - | p.L357fs |
| GCT_SOFT_TISSUE | 56202066 | 56205456 | 56202091 | 56202092 | Frame_Shift_Ins | - | T | p.K1776fs |
| EFO27_OVARY | 56202066 | 56205456 | 56204826 | 56204827 | Frame_Shift_Ins | - | A | p.Q865fs |
| HEC59_ENDOMETRIUM | 56246046 | 56247780 | 56247435 | 56247436 | Frame_Shift_Ins | - | A | p.L191fs |
| PEO1_OVARY | 56246046 | 56247780 | 56246065 | 56246066 | In_Frame_Ins | - | CTGGAA | p.647_648insVP |
| NCIH835_LUNG | 56165281 | 56165329 | 56165294 | 56165294 | Missense_Mutation | T | C | p.T2095A |
| IGR37_SKIN | 56165281 | 56165329 | 56165296 | 56165296 | Missense_Mutation | G | T | p.A2094E |
| MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56165281 | 56165329 | 56165305 | 56165305 | Missense_Mutation | A | G | p.V2091A |
| LN464_CENTRAL_NERVOUS_SYSTEM | 56182225 | 56182313 | 56182238 | 56182238 | Missense_Mutation | C | T | p.G2006R |
| ACN_AUTONOMIC_GANGLIA | 56182225 | 56182313 | 56182238 | 56182238 | Missense_Mutation | C | T | p.G2006R |
| COLO792_SKIN | 56182225 | 56182313 | 56182252 | 56182252 | Missense_Mutation | G | A | p.P2001L |
| 2313287_STOMACH | 56182225 | 56182313 | 56182268 | 56182268 | Missense_Mutation | C | T | p.A1996T |
| CW2_LARGE_INTESTINE | 56196323 | 56196470 | 56196392 | 56196392 | Missense_Mutation | G | A | p.A1811V |
| CW2_LARGE_INTESTINE | 56196323 | 56196470 | 56196427 | 56196427 | Missense_Mutation | T | G | p.E1799D |
| BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56202090 | 56202090 | Missense_Mutation | G | T | p.P1777T |
| HEC151_ENDOMETRIUM | 56202066 | 56205456 | 56202122 | 56202122 | Missense_Mutation | G | A | p.S1766L |
| SW684_SOFT_TISSUE | 56202066 | 56205456 | 56202446 | 56202446 | Missense_Mutation | C | T | p.G1658E |
| MON_SOFT_TISSUE | 56202066 | 56205456 | 56202487 | 56202487 | Missense_Mutation | G | T | p.S1644R |
| D336MG_CENTRAL_NERVOUS_SYSTEM | 56202066 | 56205456 | 56202494 | 56202494 | Missense_Mutation | G | A | p.P1642L |
| HEC1_ENDOMETRIUM | 56202066 | 56205456 | 56202524 | 56202524 | Missense_Mutation | A | G | p.I1632T |
| HEC1B_ENDOMETRIUM | 56202066 | 56205456 | 56202524 | 56202524 | Missense_Mutation | A | G | p.I1632T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56202567 | 56202567 | Missense_Mutation | C | T | p.V1618I |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56202612 | 56202612 | Missense_Mutation | G | A | p.P1603S |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56202863 | 56202863 | Missense_Mutation | C | T | p.G1519E |
| CORL321_PLEURA | 56202066 | 56205456 | 56202964 | 56202964 | Missense_Mutation | C | G | p.E1485D |
| VMRCLCD_LUNG | 56202066 | 56205456 | 56203013 | 56203013 | Missense_Mutation | C | G | p.R1469T |
| JMSU1_URINARY_TRACT | 56202066 | 56205456 | 56203058 | 56203058 | Missense_Mutation | A | G | p.V1454A |
| HCT15_LARGE_INTESTINE | 56202066 | 56205456 | 56203122 | 56203122 | Missense_Mutation | C | A | p.G1433W |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56203131 | 56203131 | Missense_Mutation | C | T | p.A1430T |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56203268 | 56203268 | Missense_Mutation | T | A | p.D1384V |
| LNCAPCLONEFGC_PROSTATE | 56202066 | 56205456 | 56203293 | 56203293 | Missense_Mutation | G | T | p.Q1376K |
| NCIH810_LUNG | 56202066 | 56205456 | 56203398 | 56203398 | Missense_Mutation | A | G | p.S1341P |
| LNCAPCLONEFGC_PROSTATE | 56202066 | 56205456 | 56203412 | 56203412 | Missense_Mutation | G | T | p.P1336H |
| SNU81_LARGE_INTESTINE | 56202066 | 56205456 | 56203470 | 56203470 | Missense_Mutation | C | T | p.E1317K |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56203489 | 56203489 | Missense_Mutation | G | C | p.S1310R |
| ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56203489 | 56203489 | Missense_Mutation | G | T | p.S1310R |
| SNU81_LARGE_INTESTINE | 56202066 | 56205456 | 56203571 | 56203571 | Missense_Mutation | G | T | p.A1283D |
| UW228_CENTRAL_NERVOUS_SYSTEM | 56202066 | 56205456 | 56203614 | 56203614 | Missense_Mutation | G | T | p.P1269T |
| NCIH1755_LUNG | 56202066 | 56205456 | 56203616 | 56203616 | Missense_Mutation | A | T | p.I1268N |
| HEC251_ENDOMETRIUM | 56202066 | 56205456 | 56203653 | 56203653 | Missense_Mutation | T | C | p.N1256D |
| SEKI_SKIN | 56202066 | 56205456 | 56203763 | 56203763 | Missense_Mutation | A | G | p.L1219S |
| SW684_SOFT_TISSUE | 56202066 | 56205456 | 56203773 | 56203773 | Missense_Mutation | C | T | p.D1216N |
| JHH7_LIVER | 56202066 | 56205456 | 56203799 | 56203799 | Missense_Mutation | G | C | p.A1207G |
| SBC5_LUNG | 56202066 | 56205456 | 56203820 | 56203820 | Missense_Mutation | G | T | p.A1200D |
| NCIH747_LARGE_INTESTINE | 56202066 | 56205456 | 56203890 | 56203890 | Missense_Mutation | C | T | p.A1177T |
| MDAMB453_BREAST | 56202066 | 56205456 | 56203895 | 56203895 | Missense_Mutation | G | A | p.S1175L |
| MM415_SKIN | 56202066 | 56205456 | 56203923 | 56203923 | Missense_Mutation | C | T | p.E1166K |
| HCC33_LUNG | 56202066 | 56205456 | 56203923 | 56203923 | Missense_Mutation | C | T | p.E1166K |
| VMCUB1_URINARY_TRACT | 56202066 | 56205456 | 56204012 | 56204012 | Missense_Mutation | C | T | p.G1136E |
| HEC251_ENDOMETRIUM | 56202066 | 56205456 | 56204047 | 56204047 | Missense_Mutation | C | A | p.E1124D |
| SNU81_LARGE_INTESTINE | 56202066 | 56205456 | 56204047 | 56204047 | Missense_Mutation | C | A | p.E1124D |
| LCLC103H_LUNG | 56202066 | 56205456 | 56204064 | 56204064 | Missense_Mutation | A | G | p.F1119L |
| SNU324_PANCREAS | 56202066 | 56205456 | 56204366 | 56204366 | Missense_Mutation | T | C | p.H1018R |
| NCIH1435_LUNG | 56202066 | 56205456 | 56204465 | 56204465 | Missense_Mutation | G | A | p.P985L |
| CP66MEL_SKIN | 56202066 | 56205456 | 56204595 | 56204595 | Missense_Mutation | C | T | p.E942K |
| NCIH187_LUNG | 56202066 | 56205456 | 56204628 | 56204628 | Missense_Mutation | G | T | p.Q931K |
| HT115_LARGE_INTESTINE | 56202066 | 56205456 | 56204725 | 56204725 | Missense_Mutation | A | C | p.I898M |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56204754 | 56204754 | Missense_Mutation | G | C | p.L889V |
| SNU81_LARGE_INTESTINE | 56202066 | 56205456 | 56204957 | 56204957 | Missense_Mutation | G | T | p.S821Y |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56205048 | 56205048 | Missense_Mutation | C | T | p.V791M |
| MM386_SKIN | 56202066 | 56205456 | 56205064 | 56205065 | Missense_Mutation | GG | TA | p.A785V |
| OUMS23_LARGE_INTESTINE | 56202066 | 56205456 | 56205105 | 56205105 | Missense_Mutation | C | A | p.V772L |
| K5_THYROID | 56202066 | 56205456 | 56205125 | 56205125 | Missense_Mutation | C | T | p.R765H |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56202066 | 56205456 | 56205191 | 56205191 | Missense_Mutation | A | T | p.I743N |
| JHUEM7_ENDOMETRIUM | 56202066 | 56205456 | 56205248 | 56205248 | Missense_Mutation | T | G | p.D724A |
| SNU1040_LARGE_INTESTINE | 56202066 | 56205456 | 56205264 | 56205264 | Missense_Mutation | G | A | p.H719Y |
| HCC95_LUNG | 56202066 | 56205456 | 56205296 | 56205296 | Missense_Mutation | G | A | p.S708L |
| MEWO_SKIN | 56202066 | 56205456 | 56205311 | 56205311 | Missense_Mutation | G | A | p.S703L |
| WM793_SKIN | 56202066 | 56205456 | 56205321 | 56205322 | Missense_Mutation | CC | TT | p.E700K |
| WM793_SKIN | 56202066 | 56205456 | 56205321 | 56205321 | Missense_Mutation | C | T | p.E700K |
| MCC142_SKIN | 56202066 | 56205456 | 56205365 | 56205365 | Missense_Mutation | C | T | p.G685E |
| CCK81_LARGE_INTESTINE | 56202066 | 56205456 | 56205438 | 56205438 | Missense_Mutation | C | T | p.V661I |
| NCIH1975_LUNG | 56246046 | 56247780 | 56246204 | 56246204 | Missense_Mutation | A | T | p.C602S |
| HCT15_LARGE_INTESTINE | 56246046 | 56247780 | 56246327 | 56246327 | Missense_Mutation | T | C | p.T561A |
| LNCAPCLONEFGC_PROSTATE | 56246046 | 56247780 | 56246330 | 56246330 | Missense_Mutation | C | A | p.G560C |
| LNCAPCLONEFGC_PROSTATE | 56246046 | 56247780 | 56246335 | 56246335 | Missense_Mutation | G | A | p.T558I |
| HT115_LARGE_INTESTINE | 56246046 | 56247780 | 56246336 | 56246336 | Missense_Mutation | T | C | p.T558A |
| DV90_LUNG | 56246046 | 56247780 | 56246467 | 56246467 | Missense_Mutation | G | A | p.T514M |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56246046 | 56247780 | 56246581 | 56246581 | Missense_Mutation | C | T | p.R476K |
| CORL23_LUNG | 56246046 | 56247780 | 56246658 | 56246658 | Missense_Mutation | T | A | p.K450N |
| SNU1040_LARGE_INTESTINE | 56246046 | 56247780 | 56246707 | 56246707 | Missense_Mutation | C | T | p.G434E |
| NCIH2286_LUNG | 56246046 | 56247780 | 56246729 | 56246729 | Missense_Mutation | T | A | p.T427S |
| RPMI7951_SKIN | 56246046 | 56247780 | 56246759 | 56246759 | Missense_Mutation | C | A | p.V417F |
| SNU175_LARGE_INTESTINE | 56246046 | 56247780 | 56246771 | 56246771 | Missense_Mutation | T | C | p.R413G |
| NCIH2170_LUNG | 56246046 | 56247780 | 56246927 | 56246927 | Missense_Mutation | C | G | p.D361H |
| 639V_URINARY_TRACT | 56246046 | 56247780 | 56246959 | 56246959 | Missense_Mutation | C | T | p.G350E |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56246046 | 56247780 | 56247060 | 56247061 | Missense_Mutation | TA | CC | p.L316R |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56246046 | 56247780 | 56247094 | 56247094 | Missense_Mutation | T | C | p.D305G |
| BCPAP_THYROID | 56246046 | 56247780 | 56247095 | 56247095 | Missense_Mutation | C | T | p.D305N |
| 2313287_STOMACH | 56246046 | 56247780 | 56247142 | 56247142 | Missense_Mutation | G | C | p.A289G |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56246046 | 56247780 | 56247166 | 56247166 | Missense_Mutation | G | A | p.A281V |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56246046 | 56247780 | 56247218 | 56247218 | Missense_Mutation | G | A | p.P264S |
| CW2_LARGE_INTESTINE | 56246046 | 56247780 | 56247332 | 56247332 | Missense_Mutation | T | C | p.K226E |
| SNU175_LARGE_INTESTINE | 56246046 | 56247780 | 56247481 | 56247481 | Missense_Mutation | G | A | p.S176L |
| ISTMES1_PLEURA | 56246046 | 56247780 | 56247497 | 56247497 | Missense_Mutation | A | T | p.S171T |
| NCIH1355_LUNG | 56246046 | 56247780 | 56247645 | 56247645 | Missense_Mutation | C | A | p.R121S |
| ISTMES1_PLEURA | 56246046 | 56247780 | 56247742 | 56247742 | Missense_Mutation | G | C | p.A89G |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 56202066 | 56205456 | 56202943 | 56202943 | Nonsense_Mutation | C | T | p.W1492* |
| MDST8_LARGE_INTESTINE | 56202066 | 56205456 | 56203346 | 56203346 | Nonsense_Mutation | G | T | p.S1358* |
| SW756_CERVIX | 56202066 | 56205456 | 56203397 | 56203397 | Nonsense_Mutation | G | C | p.S1341* |
| A204_SOFT_TISSUE | 56202066 | 56205456 | 56204148 | 56204148 | Nonsense_Mutation | C | A | p.E1091* |
| TTC642_SOFT_TISSUE | 56202066 | 56205456 | 56204148 | 56204148 | Nonsense_Mutation | C | A | p.E1091* |
| OSC20_UPPER_AERODIGESTIVE_TRACT | 56202066 | 56205456 | 56204342 | 56204342 | Nonsense_Mutation | G | C | p.S1026* |
| LB373MELD_SKIN | 56202066 | 56205456 | 56204709 | 56204709 | Nonsense_Mutation | C | A | p.E904* |
| MET2B | 56246046 | 56247780 | 56246062 | 56246062 | Nonsense_Mutation | C | T | p.W649* |
| HCC1195_LUNG | 56246046 | 56247780 | 56246885 | 56246885 | Nonsense_Mutation | C | A | p.E375* |
| YMB1E_BREAST | 56246046 | 56247780 | 56246941 | 56246941 | Nonsense_Mutation | A | T | p.L356* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALPK2 |
| 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 ALPK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALPK2 |
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RelatedDrugs for ALPK2 |
| 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 |
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RelatedDiseases for ALPK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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