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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 KREMEN2 |
 Gene summary |
| Gene information | Gene symbol | KREMEN2 | Gene ID | 79412 |
| Gene name | kringle containing transmembrane protein 2 | |
| Synonyms | KRM2 | |
| Cytomap | 16p13.3 | |
| Type of gene | protein-coding | |
| Description | kremen protein 2dickkopf receptor 2kringle domain-containing transmembrane protein 2kringle-containing protein marking the eye and the nose | |
| Modification date | 20180329 | |
| UniProtAcc | Q8NCW0 | |
| Context | PubMed: KREMEN2 [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 KREMEN2 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 KREMEN2 |
| 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 KREMEN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_132741 | 16 | 3014521:3014615:3014859:3015034:3016140:3016232 | 3014859:3015034 | ENSG00000131650.9 | ENST00000571007.1,ENST00000319500.6,ENST00000575769.1,ENST00000575885.1,ENST00000572045.1 |
| exon_skip_132743 | 16 | 3016140:3016232:3016325:3016450:3016642:3016796 | 3016325:3016450 | ENSG00000131650.9 | ENST00000303746.5,ENST00000319500.6,ENST00000575769.1,ENST00000572045.1 |
| exon_skip_132746 | 16 | 3017328:3017446:3017526:3017605:3017810:3018380 | 3017526:3017605 | ENSG00000131650.9 | ENST00000571007.1,ENST00000303746.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KREMEN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_132746 | 16 | 3017328:3017446:3017526:3017605:3017810:3018380 | 3017526:3017605 | ENSG00000131650.9 | ENST00000303746.5,ENST00000571007.1 |
| 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 KREMEN2 |
| 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 |
| ENST00000303746 | 3016325 | 3016450 | Frame-shift |
| ENST00000303746 | 3017526 | 3017605 | 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 |
| ENST00000303746 | 3017526 | 3017605 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for KREMEN2 |
| 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 KREMEN2 |
| - 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 |
| STAD | TCGA-BR-6452-01 | exon_skip_132743 | 3016326 | 3016450 | 3016364 | 3016364 | Frame_Shift_Del | C | - | p.A133fs |
| CHOL | TCGA-3X-AAVA-01 | exon_skip_132743 | 3016326 | 3016450 | 3016345 | 3016345 | Nonsense_Mutation | C | A | p.C127* |
| CHOL | TCGA-3X-AAVA-01 | exon_skip_132743 | 3016326 | 3016450 | 3016345 | 3016345 | Nonsense_Mutation | C | A | p.C127X |
| - 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 |
| SKRC20_KIDNEY | 3014860 | 3015034 | 3014876 | 3014882 | Frame_Shift_Del | CCAGGTG | - | p.FQV37fs |
| OVK18_OVARY | 3014860 | 3015034 | 3014862 | 3014862 | Missense_Mutation | C | A | p.L33M |
| LB771HNC_UPPER_AERODIGESTIVE_TRACT | 3014860 | 3015034 | 3014931 | 3014931 | Missense_Mutation | G | T | p.A56S |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3014860 | 3015034 | 3014951 | 3014951 | Missense_Mutation | C | G | p.F62L |
| SNU1040_LARGE_INTESTINE | 3014860 | 3015034 | 3015006 | 3015006 | Missense_Mutation | T | C | p.W81R |
| NCIH1648_LUNG | 3016326 | 3016450 | 3016332 | 3016332 | Missense_Mutation | G | C | p.G123A |
| SLR20_KIDNEY | 3016326 | 3016450 | 3016373 | 3016373 | Missense_Mutation | C | A | p.L137I |
| HEC108_ENDOMETRIUM | 3016326 | 3016450 | 3016422 | 3016422 | Missense_Mutation | T | C | p.L153P |
| IHH4_THYROID | 3016326 | 3016450 | 3016438 | 3016438 | Missense_Mutation | G | A | p.M158I |
| BHY_UPPER_AERODIGESTIVE_TRACT | 3017527 | 3017605 | 3017537 | 3017537 | Missense_Mutation | C | A | p.F370L |
| HCT15_LARGE_INTESTINE | 3017527 | 3017605 | 3017590 | 3017590 | Missense_Mutation | G | A | p.R388H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KREMEN2 |
| 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 KREMEN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KREMEN2 |
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RelatedDrugs for KREMEN2 |
| 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 KREMEN2 |
| 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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