|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for EFCAB14 |
 Gene summary |
| Gene information | Gene symbol | EFCAB14 | Gene ID | 9813 |
| Gene name | EF-hand calcium binding domain 14 | |
| Synonyms | KIAA0494 | |
| Cytomap | 1p33 | |
| Type of gene | protein-coding | |
| Description | EF-hand calcium-binding domain-containing protein 14 | |
| Modification date | 20180522 | |
| UniProtAcc | O75071 | |
| Context | PubMed: EFCAB14 [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 |
Top |
Exon skipping events across known transcript of Ensembl for EFCAB14 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. |
 |
Top |
Gene isoform structures and expression levels for EFCAB14 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for EFCAB14 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26442 | 1 | 47150162:47150274:47150754:47150816:47152455:47152542 | 47150754:47150816 | ENSG00000159658.6 | ENST00000487741.2 |
| exon_skip_26444 | 1 | 47152455:47152542:47154024:47154216:47155258:47155308 | 47154024:47154216 | ENSG00000159658.6 | ENST00000484461.1,ENST00000371933.3 |
| exon_skip_26445 | 1 | 47157498:47157609:47162222:47162321:47173577:47173723 | 47162222:47162321 | ENSG00000159658.6 | ENST00000544071.1,ENST00000371933.3 |
| exon_skip_26448 | 1 | 47173577:47173723:47181966:47182115:47183574:47184736 | 47181966:47182115 | ENSG00000159658.6 | ENST00000371933.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for EFCAB14 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26442 | 1 | 47150162:47150274:47150754:47150816:47152455:47152542 | 47150754:47150816 | ENSG00000159658.6 | ENST00000487741.2 |
| exon_skip_26444 | 1 | 47152455:47152542:47154024:47154216:47155258:47155308 | 47154024:47154216 | ENSG00000159658.6 | ENST00000371933.3,ENST00000484461.1 |
| exon_skip_26445 | 1 | 47157498:47157609:47162222:47162321:47173577:47173723 | 47162222:47162321 | ENSG00000159658.6 | ENST00000544071.1,ENST00000371933.3 |
| exon_skip_26448 | 1 | 47173577:47173723:47181966:47182115:47183574:47184736 | 47181966:47182115 | ENSG00000159658.6 | ENST00000371933.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EFCAB14 |
| 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 |
| ENST00000371933 | 47181966 | 47182115 | Frame-shift |
| ENST00000371933 | 47154024 | 47154216 | In-frame |
| ENST00000371933 | 47162222 | 47162321 | 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 |
| ENST00000371933 | 47181966 | 47182115 | Frame-shift |
| ENST00000371933 | 47154024 | 47154216 | In-frame |
| ENST00000371933 | 47162222 | 47162321 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EFCAB14 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000371933 | 5784 | 495 | 47162222 | 47162321 | 1458 | 1556 | 160 | 193 |
| ENST00000371933 | 5784 | 495 | 47154024 | 47154216 | 1773 | 1964 | 265 | 329 |
| 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 |
| ENST00000371933 | 5784 | 495 | 47162222 | 47162321 | 1458 | 1556 | 160 | 193 |
| ENST00000371933 | 5784 | 495 | 47154024 | 47154216 | 1773 | 1964 | 265 | 329 |
| 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 |
| O75071 | 160 | 193 | 1 | 495 | Chain | ID=PRO_0000073882;Note=EF-hand calcium-binding domain-containing protein 14 |
| O75071 | 265 | 329 | 1 | 495 | Chain | ID=PRO_0000073882;Note=EF-hand calcium-binding domain-containing protein 14 |
| 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 |
| O75071 | 160 | 193 | 1 | 495 | Chain | ID=PRO_0000073882;Note=EF-hand calcium-binding domain-containing protein 14 |
| O75071 | 265 | 329 | 1 | 495 | Chain | ID=PRO_0000073882;Note=EF-hand calcium-binding domain-containing protein 14 |
Top |
SNVs in the skipped exons for EFCAB14 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
EFCAB14_ESCA_exon_skip_26444_psi_boxplot.png |
EFCAB14_HNSC_exon_skip_26444_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-DD-A3A0-01 | exon_skip_26448 | 47181967 | 47182115 | 47181994 | 47181994 | Frame_Shift_Del | C | - | p.D103fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_26448 | 47181967 | 47182115 | 47181994 | 47181994 | Frame_Shift_Del | C | - | p.D103fs |
| HNSC | TCGA-CN-4727-01 | exon_skip_26444 | 47154025 | 47154216 | 47154099 | 47154100 | Frame_Shift_Ins | - | CTGGGTAAGATTA | p.QS304fs |
| THCA | TCGA-FY-A4B0-01 | exon_skip_26448 | 47181967 | 47182115 | 47182006 | 47182007 | Frame_Shift_Ins | - | AA | p.G99fs |
| ESCA | TCGA-L5-A8NK-01 | exon_skip_26444 | 47154025 | 47154216 | 47154135 | 47154135 | Nonsense_Mutation | C | A | p.E293* |
| ESCA | TCGA-L5-A8NK-01 | exon_skip_26444 | 47154025 | 47154216 | 47154135 | 47154135 | Nonsense_Mutation | C | A | p.E293X |
| SKCM | TCGA-EE-A2MU-06 | exon_skip_26448 | 47181967 | 47182115 | 47181973 | 47181973 | Nonsense_Mutation | G | A | p.R110* |
| SKCM | TCGA-GN-A267-06 | exon_skip_26448 | 47181967 | 47182115 | 47181973 | 47181973 | Nonsense_Mutation | G | A | p.R110* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-L5-A8NK-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_26444 | |
| Skipped exon start: 47154025 | |
| Skipped exon end: 47154216 | |
| Mutation start: 47154135 | |
| Mutation end: 47154135 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E293X | |
| Sample: TCGA-L5-A8NK-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_26444 | |
| Skipped exon start: 47154025 | |
| Skipped exon end: 47154216 | |
| Mutation start: 47154135 | |
| Mutation end: 47154135 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E293* | |
exon_skip_26444_ESCA_TCGA-L5-A8NK-01.png | |
exon_skip_432106_ESCA_TCGA-L5-A8NK-01.png | |
exon_skip_454116_ESCA_TCGA-L5-A8NK-01.png | |
 | Sample: TCGA-CN-4727-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_26444 | |
| Skipped exon start: 47154025 | |
| Skipped exon end: 47154216 | |
| Mutation start: 47154099 | |
| Mutation end: 47154100 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: CTGGGTAAGATTA | |
| AAchange: p.QS304fs | |
exon_skip_129795_HNSC_TCGA-CN-4727-01.png | |
exon_skip_129799_HNSC_TCGA-CN-4727-01.png | |
exon_skip_26444_HNSC_TCGA-CN-4727-01.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 |
| SNU1040_LARGE_INTESTINE | 47181967 | 47182115 | 47181974 | 47181974 | Missense_Mutation | A | C | p.F109L |
| HCC2998_LARGE_INTESTINE | 47181967 | 47182115 | 47181997 | 47181997 | Missense_Mutation | G | T | p.L102M |
| HEC108_ENDOMETRIUM | 47181967 | 47182115 | 47182014 | 47182014 | Missense_Mutation | A | G | p.V96A |
| CL34_LARGE_INTESTINE | 47181967 | 47182115 | 47182019 | 47182019 | Missense_Mutation | C | T | p.M94I |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47181967 | 47182115 | 47182091 | 47182091 | Missense_Mutation | C | A | p.K70N |
| EN_ENDOMETRIUM | 47181967 | 47182115 | 47182108 | 47182108 | Missense_Mutation | A | G | p.Y65H |
| SNU81_LARGE_INTESTINE | 47181967 | 47182115 | 47181973 | 47181973 | Nonsense_Mutation | G | A | p.R110* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EFCAB14 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EFCAB14 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EFCAB14 |
Top |
RelatedDrugs for EFCAB14 |
| 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 |
Top |
RelatedDiseases for EFCAB14 |
| 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)
|