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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 AXIN1 |
 Gene summary |
| Gene information | Gene symbol | AXIN1 | Gene ID | 8312 |
| Gene name | axin 1 | |
| Synonyms | AXIN|PPP1R49 | |
| Cytomap | 16p13.3 | |
| Type of gene | protein-coding | |
| Description | axin-1axis inhibition protein 1axis inhibitor 1fused, mouse, homolog ofprotein phosphatase 1, regulatory subunit 49 | |
| Modification date | 20180522 | |
| UniProtAcc | O15169 | |
| Context | PubMed: AXIN1 [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 |
| AXIN1 | GO:0001934 | positive regulation of protein phosphorylation | 9601641 |
| AXIN1 | GO:0030178 | negative regulation of Wnt signaling pathway | 10644691 |
| AXIN1 | GO:0032147 | activation of protein kinase activity | 9601641 |
| AXIN1 | GO:0034622 | cellular protein-containing complex assembly | 16601693 |
| AXIN1 | GO:0045732 | positive regulation of protein catabolic process | 9601641 |
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Exon skipping events across known transcript of Ensembl for AXIN1 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 AXIN1 |
| 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 AXIN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_140155 | 16 | 339439:339607:341189:341297:343487:343536 | 341189:341297 | ENSG00000103126.10 | ENST00000262320.3 |
| exon_skip_140157 | 16 | 343487:343718:347055:347226:347721:348251 | 347055:347226 | ENSG00000103126.10 | ENST00000354866.3,ENST00000461023.1,ENST00000262320.3 |
| exon_skip_140162 | 16 | 347843:348251:354303:354441:359972:360069 | 354303:354441 | ENSG00000103126.10 | ENST00000354866.3,ENST00000481769.1,ENST00000461023.1,ENST00000262320.3 |
| exon_skip_140168 | 16 | 354303:354441:359972:360069:364542:364683 | 359972:360069 | ENSG00000103126.10 | ENST00000354866.3,ENST00000481769.1,ENST00000461023.1,ENST00000262320.3 |
| exon_skip_140176 | 16 | 359972:360069:364542:364683:396147:396322 | 364542:364683 | ENSG00000103126.10 | ENST00000354866.3,ENST00000262320.3 |
| exon_skip_140183 | 16 | 364542:364683:396147:397106:402368:402449 | 396147:397106 | ENSG00000103126.10 | ENST00000354866.3,ENST00000262320.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AXIN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_140155 | 16 | 339439:339607:341189:341297:343487:343536 | 341189:341297 | ENSG00000103126.10 | ENST00000262320.3 |
| exon_skip_140157 | 16 | 343487:343718:347055:347226:347721:348251 | 347055:347226 | ENSG00000103126.10 | ENST00000461023.1,ENST00000262320.3,ENST00000354866.3 |
| exon_skip_140162 | 16 | 347843:348251:354303:354441:359972:360069 | 354303:354441 | ENSG00000103126.10 | ENST00000461023.1,ENST00000262320.3,ENST00000354866.3,ENST00000481769.1 |
| exon_skip_140168 | 16 | 354303:354441:359972:360069:364542:364683 | 359972:360069 | ENSG00000103126.10 | ENST00000461023.1,ENST00000262320.3,ENST00000354866.3,ENST00000481769.1 |
| exon_skip_140176 | 16 | 359972:360069:364542:364683:396147:396322 | 364542:364683 | ENSG00000103126.10 | ENST00000262320.3,ENST00000354866.3 |
| exon_skip_140183 | 16 | 364542:364683:396147:397106:402368:402449 | 396147:397106 | ENSG00000103126.10 | ENST00000262320.3,ENST00000354866.3 |
| 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 AXIN1 |
| 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 |
| ENST00000262320 | 396147 | 397106 | 3UTR-3CDS |
| ENST00000262320 | 359972 | 360069 | Frame-shift |
| ENST00000262320 | 341189 | 341297 | In-frame |
| ENST00000262320 | 347055 | 347226 | In-frame |
| ENST00000262320 | 354303 | 354441 | In-frame |
| ENST00000262320 | 364542 | 364683 | 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 |
| ENST00000262320 | 396147 | 397106 | 3UTR-3CDS |
| ENST00000262320 | 359972 | 360069 | Frame-shift |
| ENST00000262320 | 341189 | 341297 | In-frame |
| ENST00000262320 | 347055 | 347226 | In-frame |
| ENST00000262320 | 354303 | 354441 | In-frame |
| ENST00000262320 | 364542 | 364683 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AXIN1 |
| 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 |
| ENST00000262320 | 3660 | 862 | 364542 | 364683 | 1251 | 1391 | 293 | 339 |
| ENST00000262320 | 3660 | 862 | 354303 | 354441 | 1489 | 1626 | 372 | 418 |
| ENST00000262320 | 3660 | 862 | 347055 | 347226 | 2157 | 2327 | 595 | 651 |
| ENST00000262320 | 3660 | 862 | 341189 | 341297 | 2559 | 2666 | 729 | 764 |
| 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 |
| ENST00000262320 | 3660 | 862 | 364542 | 364683 | 1251 | 1391 | 293 | 339 |
| ENST00000262320 | 3660 | 862 | 354303 | 354441 | 1489 | 1626 | 372 | 418 |
| ENST00000262320 | 3660 | 862 | 347055 | 347226 | 2157 | 2327 | 595 | 651 |
| ENST00000262320 | 3660 | 862 | 341189 | 341297 | 2559 | 2666 | 729 | 764 |
| 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 |
| O15169 | 293 | 339 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 293 | 339 | 209 | 338 | Region | Note=Interaction with TP53;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15169 | 372 | 418 | 379 | 383 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WZZ |
| O15169 | 372 | 418 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 372 | 418 | 385 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NM3 |
| O15169 | 372 | 418 | 348 | 433 | Region | Note=Interaction with GSK3B;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15169 | 595 | 651 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 595 | 651 | 650 | 650 | Natural variant | ID=VAR_015592;Note=In HCC%3B also found in hepatoblastoma. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12101426;Dbxref=dbSNP:rs117208012,PMID:12101426 |
| O15169 | 595 | 651 | 507 | 757 | Region | Note=Interaction with RNF111;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16601693;Dbxref=PMID:16601693 |
| O15169 | 595 | 651 | 575 | 789 | Region | Note=Interaction with PPP2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9920888;Dbxref=PMID:9920888 |
| O15169 | 729 | 764 | 730 | 765 | Alternative sequence | ID=VSP_019398;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15169 | 729 | 764 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 729 | 764 | 507 | 757 | Region | Note=Interaction with RNF111;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16601693;Dbxref=PMID:16601693 |
| O15169 | 729 | 764 | 575 | 789 | Region | Note=Interaction with PPP2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9920888;Dbxref=PMID:9920888 |
| O15169 | 729 | 764 | 677 | 752 | Region | Note=Interaction with HIPK2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| O15169 | 293 | 339 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 293 | 339 | 209 | 338 | Region | Note=Interaction with TP53;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15169 | 372 | 418 | 379 | 383 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WZZ |
| O15169 | 372 | 418 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 372 | 418 | 385 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NM3 |
| O15169 | 372 | 418 | 348 | 433 | Region | Note=Interaction with GSK3B;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15169 | 595 | 651 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 595 | 651 | 650 | 650 | Natural variant | ID=VAR_015592;Note=In HCC%3B also found in hepatoblastoma. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12101426;Dbxref=dbSNP:rs117208012,PMID:12101426 |
| O15169 | 595 | 651 | 507 | 757 | Region | Note=Interaction with RNF111;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16601693;Dbxref=PMID:16601693 |
| O15169 | 595 | 651 | 575 | 789 | Region | Note=Interaction with PPP2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9920888;Dbxref=PMID:9920888 |
| O15169 | 729 | 764 | 730 | 765 | Alternative sequence | ID=VSP_019398;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15169 | 729 | 764 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 729 | 764 | 507 | 757 | Region | Note=Interaction with RNF111;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16601693;Dbxref=PMID:16601693 |
| O15169 | 729 | 764 | 575 | 789 | Region | Note=Interaction with PPP2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9920888;Dbxref=PMID:9920888 |
| O15169 | 729 | 764 | 677 | 752 | Region | Note=Interaction with HIPK2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for AXIN1 |
| - 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. |
AXIN1_COAD_exon_skip_140168_psi_boxplot.png |
AXIN1_ESCA_exon_skip_140168_psi_boxplot.png |
AXIN1_LIHC_exon_skip_140168_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 |
| COAD | TCGA-AA-3492-01 | exon_skip_140157 | 347056 | 347226 | 347089 | 347089 | Frame_Shift_Del | T | - | p.K641fs |
| STAD | TCGA-BR-8361-01 | exon_skip_140157 | 347056 | 347226 | 347093 | 347093 | Frame_Shift_Del | C | - | p.E640fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_140157 | 347056 | 347226 | 347093 | 347093 | Frame_Shift_Del | C | - | p.E640fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_140157 | 347056 | 347226 | 347117 | 347117 | Frame_Shift_Del | T | - | p.I632fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_140168 | 359973 | 360069 | 359997 | 359997 | Frame_Shift_Del | C | - | p.G364fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_140168 | 359973 | 360069 | 360055 | 360055 | Frame_Shift_Del | G | - | p.P345fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_140168 | 359973 | 360069 | 360055 | 360055 | Frame_Shift_Del | G | - | p.P345fs |
| LIHC | TCGA-ES-A2HS-01 | exon_skip_140176 | 364543 | 364683 | 364562 | 364563 | Frame_Shift_Del | AC | - | p.334_334del |
| LIHC | TCGA-ES-A2HS-01 | exon_skip_140176 | 364543 | 364683 | 364562 | 364563 | Frame_Shift_Del | AC | - | p.LS333fs |
| LIHC | TCGA-DD-A39Z-01 | exon_skip_140176 | 364543 | 364683 | 364598 | 364598 | Frame_Shift_Del | C | - | p.E322fs |
| STAD | TCGA-F1-6177-01 | exon_skip_140183 | 396148 | 397106 | 396234 | 396234 | Frame_Shift_Del | G | - | p.G265fs |
| STAD | TCGA-F1-6177-01 | exon_skip_140183 | 396148 | 397106 | 396234 | 396234 | Frame_Shift_Del | G | - | p.P264fs |
| LIHC | TCGA-CC-A5UC-01 | exon_skip_140183 | 396148 | 397106 | 396352 | 396352 | Frame_Shift_Del | C | - | p.S225fs |
| LIHC | TCGA-CC-A5UC-01 | exon_skip_140183 | 396148 | 397106 | 396352 | 396352 | Frame_Shift_Del | C | - | p.S226fs |
| LIHC | TCGA-CC-A5UC-01 | exon_skip_140183 | 396148 | 397106 | 396352 | 396353 | Frame_Shift_Del | CT | - | p.225_225del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_140183 | 396148 | 397106 | 396537 | 396537 | Frame_Shift_Del | G | - | p.A163fs |
| COAD | TCGA-AA-3492-01 | exon_skip_140183 | 396148 | 397106 | 396962 | 396962 | Frame_Shift_Del | G | - | p.R22fs |
| LIHC | TCGA-DD-A1EH-01 | exon_skip_140157 | 347056 | 347226 | 347071 | 347072 | Frame_Shift_Ins | - | G | p.Q647fs |
| LIHC | TCGA-DD-A1EH-01 | exon_skip_140157 | 347056 | 347226 | 347071 | 347072 | Frame_Shift_Ins | - | G | p.R647fs |
| UCEC | TCGA-B5-A11G-01 | exon_skip_140157 | 347056 | 347226 | 347220 | 347221 | Frame_Shift_Ins | - | T | p.V598fs |
| LIHC | TCGA-G3-AAV7-01 | exon_skip_140176 | 364543 | 364683 | 364646 | 364647 | Frame_Shift_Ins | - | A | p.V306fs |
| LIHC | TCGA-CC-A9FS-01 | exon_skip_140157 | 347056 | 347226 | 347107 | 347107 | Nonsense_Mutation | C | T | p.W635X |
| BLCA | TCGA-C4-A0F6-01 | exon_skip_140157 | 347056 | 347226 | 347183 | 347183 | Nonsense_Mutation | C | A | p.E610* |
| LIHC | TCGA-DD-AADS-01 | exon_skip_140157 | 347056 | 347226 | 347192 | 347192 | Nonsense_Mutation | T | A | p.K607X |
| LIHC | TCGA-DD-AAVS-01 | exon_skip_140162 | 354304 | 354441 | 354369 | 354369 | Nonsense_Mutation | C | A | p.E397X |
| LIHC | TCGA-DD-AAVU-01 | exon_skip_140168 | 359973 | 360069 | 360038 | 360038 | Nonsense_Mutation | G | A | p.Q351X |
| LIHC | TCGA-DD-AAE6-01 | exon_skip_140183 | 396148 | 397106 | 396164 | 396164 | Nonsense_Mutation | C | A | p.E288X |
| LIHC | TCGA-DD-AAE1-01 | exon_skip_140183 | 396148 | 397106 | 396740 | 396740 | Nonsense_Mutation | G | A | p.Q96X |
| COAD | TCGA-CM-6162-01 | exon_skip_140168 | 359973 | 360069 | 359972 | 359972 | Splice_Site | C | T | . |
| LIHC | TCGA-CC-A9FU-01 | exon_skip_140168 | 359973 | 360069 | 360070 | 360070 | Splice_Site | C | A | . |
| LIHC | TCGA-FV-A3R2-01 | exon_skip_140168 | 359973 | 360069 | 360070 | 360070 | Splice_Site | C | A | . |
| LIHC | TCGA-2Y-A9H7-01 | exon_skip_140183 | 396148 | 397106 | 396147 | 396147 | Splice_Site | C | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CM-6162-01 |
| Cancer type: COAD | |
| ESID: exon_skip_140168 | |
| Skipped exon start: 359973 | |
| Skipped exon end: 360069 | |
| Mutation start: 359972 | |
| Mutation end: 359972 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_140168_COAD_TCGA-CM-6162-01.png | |
exon_skip_383994_COAD_TCGA-CM-6162-01.png | |
exon_skip_490739_COAD_TCGA-CM-6162-01.png | |
 | Sample: TCGA-CC-A9FU-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_140168 | |
| Skipped exon start: 359973 | |
| Skipped exon end: 360069 | |
| Mutation start: 360070 | |
| Mutation end: 360070 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_140168_LIHC_TCGA-CC-A9FU-01.png | |
| - 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 |
| SNUC4_LARGE_INTESTINE | 347056 | 347226 | 347093 | 347093 | Frame_Shift_Del | C | - | p.E640fs |
| EFO27_OVARY | 347056 | 347226 | 347093 | 347093 | Frame_Shift_Del | C | - | p.E640fs |
| KM12_LARGE_INTESTINE | 347056 | 347226 | 347093 | 347093 | Frame_Shift_Del | C | - | p.E640fs |
| SNU423_LIVER | 359973 | 360069 | 360044 | 360056 | Frame_Shift_Del | GGATCCTGTATGG | - | p.PYRIR345fs |
| SNU520_STOMACH | 359973 | 360069 | 360055 | 360055 | Frame_Shift_Del | G | - | p.P345fs |
| HUH1_LIVER | 364543 | 364683 | 364655 | 364658 | Frame_Shift_Del | GGTT | - | p.NP302fs |
| KM12_LARGE_INTESTINE | 396148 | 397106 | 396234 | 396234 | Frame_Shift_Del | G | - | p.P264fs |
| CW2_LARGE_INTESTINE | 396148 | 397106 | 396916 | 396916 | Frame_Shift_Del | G | - | p.P37fs |
| JHH5_LIVER | 396148 | 397106 | 397008 | 397009 | Frame_Shift_Del | CT | - | p.Q6fs |
| HUH1_LIVER | 364543 | 364683 | 364661 | 364669 | In_Frame_Del | CTGGCTCCC | - | p.298_301REPV>L |
| NCIH2882_LUNG | 396148 | 397106 | 396621 | 396623 | In_Frame_Del | CTC | - | p.E135del |
| JHH7_LIVER | 396148 | 397106 | 396700 | 396744 | In_Frame_Del | TCCTGCTTCAGGAAAGTCCTGAACAGGCTTATCCCATCTTGGTCA | - | p.DDQDGISLFRTFLKQ94del |
| SNU1040_LARGE_INTESTINE | 341190 | 341297 | 341275 | 341275 | Missense_Mutation | G | A | p.R737W |
| HS863T_FIBROBLAST | 347056 | 347226 | 347135 | 347135 | Missense_Mutation | C | T | p.A626T |
| HCC44_LUNG | 347056 | 347226 | 347196 | 347196 | Missense_Mutation | A | T | p.N605K |
| SNU175_LARGE_INTESTINE | 347056 | 347226 | 347222 | 347222 | Missense_Mutation | T | C | p.K597E |
| HCT15_LARGE_INTESTINE | 354304 | 354441 | 354372 | 354372 | Missense_Mutation | G | T | p.L396M |
| HRT18_LARGE_INTESTINE | 354304 | 354441 | 354372 | 354372 | Missense_Mutation | G | T | p.L396M |
| NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 354304 | 354441 | 354417 | 354417 | Missense_Mutation | C | A | p.V381F |
| SNUC4_LARGE_INTESTINE | 354304 | 354441 | 354428 | 354428 | Missense_Mutation | A | G | p.V377A |
| SKGIIIA_CERVIX | 354304 | 354441 | 354437 | 354437 | Missense_Mutation | G | A | p.T374M |
| EN_ENDOMETRIUM | 359973 | 360069 | 360007 | 360007 | Missense_Mutation | T | C | p.Q361R |
| LOVO_LARGE_INTESTINE | 359973 | 360069 | 360031 | 360031 | Missense_Mutation | C | T | p.R353H |
| C32_SKIN | 359973 | 360069 | 360043 | 360043 | Missense_Mutation | C | T | p.R349H |
| SW982_SOFT_TISSUE | 364543 | 364683 | 364559 | 364559 | Missense_Mutation | G | A | p.L335F |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 364543 | 364683 | 364562 | 364562 | Missense_Mutation | A | G | p.S334P |
| CP67MEL_SKIN | 364543 | 364683 | 364642 | 364642 | Missense_Mutation | T | C | p.N307S |
| LB996EBV_MATCHED_NORMAL_TISSUE | 396148 | 397106 | 396173 | 396173 | Missense_Mutation | G | A | p.R285W |
| LB996RCC_KIDNEY | 396148 | 397106 | 396173 | 396173 | Missense_Mutation | G | A | p.R285W |
| TOV21G_OVARY | 396148 | 397106 | 396193 | 396193 | Missense_Mutation | G | T | p.P278Q |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 396148 | 397106 | 396197 | 396197 | Missense_Mutation | C | T | p.A277T |
| SW626_OVARY | 396148 | 397106 | 396364 | 396364 | Missense_Mutation | C | T | p.C221Y |
| ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 396148 | 397106 | 396398 | 396398 | Missense_Mutation | A | G | p.Y210H |
| HCC1599_BREAST | 396148 | 397106 | 396422 | 396422 | Missense_Mutation | G | C | p.L202V |
| HCC1599_MATCHED_NORMAL_TISSUE | 396148 | 397106 | 396422 | 396422 | Missense_Mutation | G | C | p.L202V |
| CW2_LARGE_INTESTINE | 396148 | 397106 | 396527 | 396527 | Missense_Mutation | A | C | p.F167V |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 396148 | 397106 | 396745 | 396745 | Missense_Mutation | T | G | p.D94A |
| SNU61_LARGE_INTESTINE | 396148 | 397106 | 396745 | 396745 | Missense_Mutation | T | G | p.D94A |
| M14_SKIN | 396148 | 397106 | 396758 | 396758 | Missense_Mutation | G | A | p.H90Y |
| HEC108_ENDOMETRIUM | 396148 | 397106 | 396902 | 396902 | Missense_Mutation | A | T | p.Y42N |
| SNU81_LARGE_INTESTINE | 396148 | 397106 | 396918 | 396918 | Missense_Mutation | G | T | p.D36E |
| 22RV1_PROSTATE | 396148 | 397106 | 396989 | 396989 | Missense_Mutation | C | T | p.G13R |
| MCC13_SKIN | 396148 | 397106 | 397001 | 397001 | Missense_Mutation | G | A | p.P9S |
| JHH6_LIVER | 396148 | 397106 | 397011 | 397011 | Missense_Mutation | C | A | p.E5D |
| HEP3B217_LIVER | 396148 | 397106 | 396590 | 396590 | Nonsense_Mutation | G | A | p.R146* |
| IM95_STOMACH | 396148 | 397106 | 396935 | 396935 | Nonsense_Mutation | C | A | p.E31* |
| JHH6_LIVER | 396148 | 397106 | 397010 | 397011 | Nonsense_Mutation | GC | AA | p.5_6EQ>D* |
| JHH6_LIVER | 396148 | 397106 | 397010 | 397010 | Nonsense_Mutation | G | A | p.Q6* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AXIN1 |
| 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 AXIN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AXIN1 |
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RelatedDrugs for AXIN1 |
| 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 AXIN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AXIN1 | C2239176 | Liver carcinoma | 2 | CTD_human;HPO;UNIPROT |
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