|
||||||
|
 | |
| |
| |
| |
| 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 LCA5L |
 Gene summary |
| Gene information | Gene symbol | LCA5L | Gene ID | 150082 |
| Gene name | LCA5L, lebercilin like | |
| Synonyms | C21orf13 | |
| Cytomap | 21q22.2 | |
| Type of gene | protein-coding | |
| Description | lebercilin-like proteinleber congenital amaurosis 5-like protein | |
| Modification date | 20180523 | |
| UniProtAcc | O95447 | |
| Context | PubMed: LCA5L [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 LCA5L 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 LCA5L |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for LCA5L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362051 | 21 | 40781904:40782022:40782189:40782293:40783643:40783728 | 40782189:40782293 | ENSG00000157578.9 | ENST00000288350.3,ENST00000358268.2,ENST00000380671.2 |
| exon_skip_362052 | 21 | 40783643:40783728:40792631:40792769:40794901:40795009 | 40792631:40792769 | ENSG00000157578.9 | ENST00000484878.1,ENST00000288350.3,ENST00000358268.2,ENST00000380671.2 |
| exon_skip_362056 | 21 | 40792631:40792769:40794901:40795416:40800097:40800429 | 40794901:40795416 | ENSG00000157578.9 | ENST00000288350.3,ENST00000358268.2,ENST00000380671.2 |
| exon_skip_362064 | 21 | 40795345:40795416:40799684:40799831:40801056:40801137 | 40799684:40799831 | ENSG00000157578.9 | ENST00000490184.1 |
| exon_skip_362065 | 21 | 40795345:40795416:40800097:40800429:40801056:40801137 | 40800097:40800429 | ENSG00000157578.9 | ENST00000418018.1,ENST00000288350.3,ENST00000358268.2,ENST00000485895.2,ENST00000380671.2 |
| exon_skip_362067 | 21 | 40795345:40795416:40801056:40801137:40807345:40807468 | 40801056:40801137 | ENSG00000157578.9 | ENST00000459939.1 |
| exon_skip_362068 | 21 | 40795345:40795416:40801056:40801137:40816060:40816127 | 40801056:40801137 | ENSG00000157578.9 | ENST00000491625.1 |
| exon_skip_362077 | 21 | 40801113:40801137:40807345:40807468:40816060:40816127 | 40807345:40807468 | ENSG00000157578.9 | ENST00000418018.1 |
| exon_skip_362080 | 21 | 40801113:40801137:40807345:40807499:40816060:40816127 | 40807345:40807499 | ENSG00000157578.9 | ENST00000288350.3,ENST00000490184.1,ENST00000380671.2 |
| exon_skip_362081 | 21 | 40801113:40801137:40807345:40807499:40817650:40817678 | 40807345:40807499 | ENSG00000157578.9 | ENST00000459939.1,ENST00000485895.2 |
| exon_skip_362082 | 21 | 40801113:40801137:40810609:40810644:40816060:40816127 | 40810609:40810644 | ENSG00000157578.9 | ENST00000438404.1 |
| exon_skip_362085 | 21 | 40801113:40801137:40816060:40816127:40817650:40817678 | 40816060:40816127 | ENSG00000157578.9 | ENST00000434281.1,ENST00000491625.1 |
| exon_skip_362086 | 21 | 40807345:40807468:40816060:40816127:40817650:40817678 | 40816060:40816127 | ENSG00000157578.9 | ENST00000418018.1,ENST00000456017.1 |
| exon_skip_362088 | 21 | 40807345:40807499:40808022:40808093:40816060:40816127 | 40808022:40808093 | ENSG00000157578.9 | ENST00000484878.1 |
| exon_skip_362089 | 21 | 40807345:40807499:40811559:40811699:40816060:40816127 | 40811559:40811699 | ENSG00000157578.9 | ENST00000415863.1 |
| exon_skip_362096 | 21 | 40816060:40816127:40816569:40816671:40817650:40817678 | 40816569:40816671 | ENSG00000157578.9 | ENST00000451131.1,ENST00000490184.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for LCA5L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362051 | 21 | 40781904:40782022:40782189:40782293:40783643:40783728 | 40782189:40782293 | ENSG00000157578.9 | ENST00000288350.3,ENST00000380671.2,ENST00000358268.2 |
| exon_skip_362052 | 21 | 40783643:40783728:40792631:40792769:40794901:40795009 | 40792631:40792769 | ENSG00000157578.9 | ENST00000288350.3,ENST00000380671.2,ENST00000358268.2,ENST00000484878.1 |
| exon_skip_362056 | 21 | 40792631:40792769:40794901:40795416:40800097:40800429 | 40794901:40795416 | ENSG00000157578.9 | ENST00000288350.3,ENST00000380671.2,ENST00000358268.2 |
| exon_skip_362064 | 21 | 40795345:40795416:40799684:40799831:40801056:40801137 | 40799684:40799831 | ENSG00000157578.9 | ENST00000490184.1 |
| exon_skip_362065 | 21 | 40795345:40795416:40800097:40800429:40801056:40801137 | 40800097:40800429 | ENSG00000157578.9 | ENST00000288350.3,ENST00000380671.2,ENST00000358268.2,ENST00000485895.2,ENST00000418018.1 |
| exon_skip_362067 | 21 | 40795345:40795416:40801056:40801137:40807345:40807468 | 40801056:40801137 | ENSG00000157578.9 | ENST00000459939.1 |
| exon_skip_362068 | 21 | 40795345:40795416:40801056:40801137:40816060:40816127 | 40801056:40801137 | ENSG00000157578.9 | ENST00000491625.1 |
| exon_skip_362070 | 21 | 40795345:40795416:40801056:40801320:40807345:40807468 | 40801056:40801320 | ENSG00000157578.9 | ENST00000466954.1 |
| exon_skip_362077 | 21 | 40801113:40801137:40807345:40807468:40816060:40816127 | 40807345:40807468 | ENSG00000157578.9 | ENST00000418018.1 |
| exon_skip_362080 | 21 | 40801113:40801137:40807345:40807499:40816060:40816127 | 40807345:40807499 | ENSG00000157578.9 | ENST00000288350.3,ENST00000380671.2,ENST00000490184.1 |
| exon_skip_362081 | 21 | 40801113:40801137:40807345:40807499:40817650:40817678 | 40807345:40807499 | ENSG00000157578.9 | ENST00000485895.2,ENST00000459939.1 |
| exon_skip_362082 | 21 | 40801113:40801137:40810609:40810644:40816060:40816127 | 40810609:40810644 | ENSG00000157578.9 | ENST00000438404.1 |
| exon_skip_362085 | 21 | 40801113:40801137:40816060:40816127:40817650:40817678 | 40816060:40816127 | ENSG00000157578.9 | ENST00000491625.1,ENST00000434281.1 |
| exon_skip_362086 | 21 | 40807345:40807468:40816060:40816127:40817650:40817678 | 40816060:40816127 | ENSG00000157578.9 | ENST00000418018.1,ENST00000456017.1 |
| exon_skip_362087 | 21 | 40807345:40807499:40808022:40808093:40811559:40811699 | 40808022:40808093 | ENSG00000157578.9 | ENST00000426783.1 |
| exon_skip_362088 | 21 | 40807345:40807499:40808022:40808093:40816060:40816127 | 40808022:40808093 | ENSG00000157578.9 | ENST00000484878.1 |
| exon_skip_362089 | 21 | 40807345:40807499:40811559:40811699:40816060:40816127 | 40811559:40811699 | ENSG00000157578.9 | ENST00000415863.1 |
| exon_skip_362094 | 21 | 40811559:40811699:40816060:40816127:40817650:40817678 | 40816060:40816127 | ENSG00000157578.9 | ENST00000415863.1 |
| exon_skip_362095 | 21 | 40816060:40816127:40816569:40816671:40817375:40817645 | 40816569:40816671 | ENSG00000157578.9 | ENST00000438404.1 |
| exon_skip_362096 | 21 | 40816060:40816127:40816569:40816671:40817650:40817678 | 40816569:40816671 | ENSG00000157578.9 | ENST00000490184.1,ENST00000451131.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for LCA5L |
| 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 |
| ENST00000288350 | 40800097 | 40800429 | 3UTR-3CDS |
| ENST00000358268 | 40800097 | 40800429 | 3UTR-3CDS |
| ENST00000380671 | 40800097 | 40800429 | 3UTR-3CDS |
| ENST00000288350 | 40807345 | 40807499 | 3UTR-3UTR |
| ENST00000380671 | 40807345 | 40807499 | 3UTR-3UTR |
| ENST00000288350 | 40782189 | 40782293 | Frame-shift |
| ENST00000358268 | 40782189 | 40782293 | Frame-shift |
| ENST00000380671 | 40782189 | 40782293 | Frame-shift |
| ENST00000288350 | 40794901 | 40795416 | Frame-shift |
| ENST00000358268 | 40794901 | 40795416 | Frame-shift |
| ENST00000380671 | 40794901 | 40795416 | Frame-shift |
| ENST00000288350 | 40792631 | 40792769 | In-frame |
| ENST00000358268 | 40792631 | 40792769 | In-frame |
| ENST00000380671 | 40792631 | 40792769 | 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 |
| ENST00000288350 | 40800097 | 40800429 | 3UTR-3CDS |
| ENST00000358268 | 40800097 | 40800429 | 3UTR-3CDS |
| ENST00000380671 | 40800097 | 40800429 | 3UTR-3CDS |
| ENST00000288350 | 40807345 | 40807499 | 3UTR-3UTR |
| ENST00000380671 | 40807345 | 40807499 | 3UTR-3UTR |
| ENST00000288350 | 40782189 | 40782293 | Frame-shift |
| ENST00000358268 | 40782189 | 40782293 | Frame-shift |
| ENST00000380671 | 40782189 | 40782293 | Frame-shift |
| ENST00000288350 | 40794901 | 40795416 | Frame-shift |
| ENST00000358268 | 40794901 | 40795416 | Frame-shift |
| ENST00000380671 | 40794901 | 40795416 | Frame-shift |
| ENST00000288350 | 40792631 | 40792769 | In-frame |
| ENST00000358268 | 40792631 | 40792769 | In-frame |
| ENST00000380671 | 40792631 | 40792769 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for LCA5L |
| 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 |
| ENST00000288350 | 2433 | 670 | 40792631 | 40792769 | 1203 | 1340 | 279 | 325 |
| ENST00000358268 | 2581 | 670 | 40792631 | 40792769 | 1367 | 1504 | 279 | 325 |
| ENST00000380671 | 2381 | 670 | 40792631 | 40792769 | 1151 | 1288 | 279 | 325 |
| 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 |
| ENST00000288350 | 2433 | 670 | 40792631 | 40792769 | 1203 | 1340 | 279 | 325 |
| ENST00000358268 | 2581 | 670 | 40792631 | 40792769 | 1367 | 1504 | 279 | 325 |
| ENST00000380671 | 2381 | 670 | 40792631 | 40792769 | 1151 | 1288 | 279 | 325 |
| 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 |
| O95447 | 279 | 325 | 1 | 670 | Chain | ID=PRO_0000079507;Note=Lebercilin-like protein |
| O95447 | 279 | 325 | 1 | 670 | Chain | ID=PRO_0000079507;Note=Lebercilin-like protein |
| O95447 | 279 | 325 | 1 | 670 | Chain | ID=PRO_0000079507;Note=Lebercilin-like protein |
| O95447 | 279 | 325 | 305 | 336 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95447 | 279 | 325 | 305 | 336 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95447 | 279 | 325 | 305 | 336 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O95447 | 279 | 325 | 1 | 670 | Chain | ID=PRO_0000079507;Note=Lebercilin-like protein |
| O95447 | 279 | 325 | 1 | 670 | Chain | ID=PRO_0000079507;Note=Lebercilin-like protein |
| O95447 | 279 | 325 | 1 | 670 | Chain | ID=PRO_0000079507;Note=Lebercilin-like protein |
| O95447 | 279 | 325 | 305 | 336 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95447 | 279 | 325 | 305 | 336 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95447 | 279 | 325 | 305 | 336 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for LCA5L |
| - 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. |
| - 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_362051 | 40782190 | 40782293 | 40782217 | 40782217 | Frame_Shift_Del | T | - | p.K379fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_362051 | 40782190 | 40782293 | 40782217 | 40782217 | Frame_Shift_Del | T | - | p.S380fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_362051 | 40782190 | 40782293 | 40782254 | 40782254 | Frame_Shift_Del | A | - | p.L367fs |
| STAD | TCGA-BR-4362-01 | exon_skip_362056 | 40794902 | 40795416 | 40794907 | 40794907 | Frame_Shift_Del | T | - | p.I278fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_362056 | 40794902 | 40795416 | 40794981 | 40794981 | Frame_Shift_Del | T | - | p.N253fs |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_362056 | 40794902 | 40795416 | 40795272 | 40795272 | Frame_Shift_Del | T | - | p.N156fs |
| STAD | TCGA-BR-4184-01 | exon_skip_362056 | 40794902 | 40795416 | 40795389 | 40795389 | Frame_Shift_Del | T | - | p.K117fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_362065 | 40800098 | 40800429 | 40800113 | 40800113 | Frame_Shift_Del | T | - | p.I103fs |
| STAD | TCGA-FP-8631-01 | exon_skip_362065 | 40800098 | 40800429 | 40800395 | 40800395 | Frame_Shift_Del | T | - | p.T9fs |
| LIHC | TCGA-DD-A3A5-01 | exon_skip_362056 | 40794902 | 40795416 | 40794906 | 40794907 | Frame_Shift_Ins | - | T | p.I278fs |
| LIHC | TCGA-DD-A3A5-01 | exon_skip_362056 | 40794902 | 40795416 | 40794906 | 40794907 | Frame_Shift_Ins | - | T | p.T278fs |
| BRCA | TCGA-BH-A18U-01 | exon_skip_362056 | 40794902 | 40795416 | 40795105 | 40795105 | Nonsense_Mutation | G | A | p.Q212* |
| SKCM | TCGA-D3-A8GL-06 | exon_skip_362056 | 40794902 | 40795416 | 40795222 | 40795222 | Nonsense_Mutation | G | A | p.Q173* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_362056 | 40794902 | 40795416 | 40795315 | 40795315 | Nonsense_Mutation | G | A | p.R142* |
| UCEC | TCGA-D1-A103-01 | exon_skip_362065 | 40800098 | 40800429 | 40800107 | 40800107 | Nonsense_Mutation | G | A | p.Q105* |
| - 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 |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40782190 | 40782293 | 40782234 | 40782234 | Frame_Shift_Del | G | - | p.H374fs |
| KM12_LARGE_INTESTINE | 40794902 | 40795416 | 40794907 | 40794907 | Frame_Shift_Del | T | - | p.I278fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40794902 | 40795416 | 40794907 | 40794907 | Frame_Shift_Del | T | - | p.I278fs |
| C80_LARGE_INTESTINE | 40794902 | 40795416 | 40795388 | 40795389 | Frame_Shift_Ins | - | T | p.K117fs |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 40800098 | 40800429 | 40800123 | 40800125 | In_Frame_Del | ATT | - | p.N99del |
| CHLA9_BONE | 40794902 | 40795416 | 40794906 | 40794906 | Missense_Mutation | A | G | p.I278T |
| RH28_SOFT_TISSUE | 40794902 | 40795416 | 40794914 | 40794914 | Missense_Mutation | G | T | p.D275E |
| RH41_SOFT_TISSUE | 40794902 | 40795416 | 40794914 | 40794914 | Missense_Mutation | G | T | p.D275E |
| RHJT_SOFT_TISSUE | 40794902 | 40795416 | 40794914 | 40794914 | Missense_Mutation | G | T | p.D275E |
| PACADD137_PANCREAS | 40794902 | 40795416 | 40794999 | 40794999 | Missense_Mutation | T | C | p.K247R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40794902 | 40795416 | 40795201 | 40795201 | Missense_Mutation | G | A | p.L180F |
| CHAGOK1_LUNG | 40794902 | 40795416 | 40795214 | 40795214 | Missense_Mutation | C | G | p.L175F |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40794902 | 40795416 | 40795224 | 40795224 | Missense_Mutation | T | C | p.N172S |
| MFE296_ENDOMETRIUM | 40800098 | 40800429 | 40800145 | 40800145 | Missense_Mutation | T | C | p.E92G |
| CW2_LARGE_INTESTINE | 40800098 | 40800429 | 40800262 | 40800262 | Missense_Mutation | C | T | p.R53K |
| EFO21_OVARY | 40800098 | 40800429 | 40800272 | 40800272 | Missense_Mutation | C | G | p.D50H |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40800098 | 40800429 | 40800278 | 40800278 | Missense_Mutation | T | A | p.S48C |
| HEC108_ENDOMETRIUM | 40800098 | 40800429 | 40800334 | 40800334 | Missense_Mutation | C | T | p.C29Y |
| MCC13_SKIN | 40794902 | 40795416 | 40795315 | 40795315 | Nonsense_Mutation | G | A | p.R142* |
| JEG3_PLACENTA | 40800098 | 40800429 | 40800098 | 40800098 | Splice_Site | C | T | p.G108S |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LCA5L |
| 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 |
| exon_skip_362077 | 21 | 40801113:40801137:40807345:40807468:40816060:40816127 | 40807345:40807468 | ENST00000418018.1 | BRCA | rs2837034 | chr21:40807360 | T/C | 3.50e-03 |
| exon_skip_362077 | 21 | 40801113:40801137:40807345:40807468:40816060:40816127 | 40807345:40807468 | ENST00000418018.1 | BRCA | rs2837034 | chr21:40807360 | T/C | 3.50e-03 |
| exon_skip_362077 | 21 | 40801113:40801137:40807345:40807468:40816060:40816127 | 40807345:40807468 | ENST00000418018.1 | THCA | rs2837034 | chr21:40807360 | T/C | 6.82e-08 |
| exon_skip_362077 | 21 | 40801113:40801137:40807345:40807468:40816060:40816127 | 40807345:40807468 | ENST00000418018.1 | THCA | rs2837034 | chr21:40807360 | T/C | 6.82e-08 |
| exon_skip_362096 | 21 | 40816060:40816127:40816569:40816671:40817650:40817678 | 40816569:40816671 | ENST00000451131.1,ENST00000490184.1 | PRAD | rs9983435 | chr21:40816631 | A/G | 2.32e-03 |
| exon_skip_362096 | 21 | 40816060:40816127:40816569:40816671:40817650:40817678 | 40816569:40816671 | ENST00000451131.1,ENST00000490184.1 | PRAD | rs9983435 | chr21:40816631 | A/G | 2.32e-03 |
| exon_skip_362096 | 21 | 40816060:40816127:40816569:40816671:40817650:40817678 | 40816569:40816671 | ENST00000451131.1,ENST00000490184.1 | THCA | rs9983435 | chr21:40816631 | A/G | 3.26e-03 |
| exon_skip_362096 | 21 | 40816060:40816127:40816569:40816671:40817650:40817678 | 40816569:40816671 | ENST00000451131.1,ENST00000490184.1 | THCA | rs9983435 | chr21:40816631 | A/G | 3.26e-03 |
| exon_skip_362080 | 21 | 40801113:40801137:40807345:40807499:40816060:40816127 | 40807345:40807499 | ENST00000288350.3,ENST00000490184.1,ENST00000380671.2 | BRCA | rs2837034 | chr21:40807360 | T/C | 3.50e-03 |
| exon_skip_362080 | 21 | 40801113:40801137:40807345:40807499:40816060:40816127 | 40807345:40807499 | ENST00000288350.3,ENST00000490184.1,ENST00000380671.2 | BRCA | rs2837034 | chr21:40807360 | T/C | 3.50e-03 |
| exon_skip_362080 | 21 | 40801113:40801137:40807345:40807499:40816060:40816127 | 40807345:40807499 | ENST00000288350.3,ENST00000490184.1,ENST00000380671.2 | THCA | rs2837034 | chr21:40807360 | T/C | 6.82e-08 |
| exon_skip_362080 | 21 | 40801113:40801137:40807345:40807499:40816060:40816127 | 40807345:40807499 | ENST00000288350.3,ENST00000490184.1,ENST00000380671.2 | THCA | rs2837034 | chr21:40807360 | T/C | 6.82e-08 |
| exon_skip_362081 | 21 | 40801113:40801137:40807345:40807499:40817650:40817678 | 40807345:40807499 | ENST00000459939.1,ENST00000485895.2 | BRCA | rs2837034 | chr21:40807360 | T/C | 3.50e-03 |
| exon_skip_362081 | 21 | 40801113:40801137:40807345:40807499:40817650:40817678 | 40807345:40807499 | ENST00000459939.1,ENST00000485895.2 | BRCA | rs2837034 | chr21:40807360 | T/C | 3.50e-03 |
| exon_skip_362081 | 21 | 40801113:40801137:40807345:40807499:40817650:40817678 | 40807345:40807499 | ENST00000459939.1,ENST00000485895.2 | THCA | rs2837034 | chr21:40807360 | T/C | 6.82e-08 |
| exon_skip_362081 | 21 | 40801113:40801137:40807345:40807499:40817650:40817678 | 40807345:40807499 | ENST00000459939.1,ENST00000485895.2 | THCA | rs2837034 | chr21:40807360 | T/C | 6.82e-08 |
| exon_skip_362064 | 21 | 40795345:40795416:40799684:40799831:40801056:40801137 | 40799684:40799831 | ENST00000490184.1 | KIRC | rs2837027 | chr21:40799797 | A/G | 2.07e-03 |
| exon_skip_362064 | 21 | 40795345:40795416:40799684:40799831:40801056:40801137 | 40799684:40799831 | ENST00000490184.1 | KIRC | rs2837027 | chr21:40799797 | A/G | 2.07e-03 |
| exon_skip_362065 | 21 | 40795345:40795416:40800097:40800429:40801056:40801137 | 40800097:40800429 | ENST00000418018.1,ENST00000288350.3,ENST00000358268.2,ENST00000485895.2,ENST00000380671.2 | BRCA | rs2837029 | chr21:40800371 | C/T | 1.40e-03 |
| exon_skip_362065 | 21 | 40795345:40795416:40800097:40800429:40801056:40801137 | 40800097:40800429 | ENST00000418018.1,ENST00000288350.3,ENST00000358268.2,ENST00000485895.2,ENST00000380671.2 | BRCA | rs2837029 | chr21:40800371 | C/T | 1.40e-03 |
| exon_skip_362065 | 21 | 40795345:40795416:40800097:40800429:40801056:40801137 | 40800097:40800429 | ENST00000418018.1,ENST00000288350.3,ENST00000358268.2,ENST00000485895.2,ENST00000380671.2 | THCA | rs2837029 | chr21:40800371 | C/T | 6.65e-08 |
| exon_skip_362065 | 21 | 40795345:40795416:40800097:40800429:40801056:40801137 | 40800097:40800429 | ENST00000418018.1,ENST00000288350.3,ENST00000358268.2,ENST00000485895.2,ENST00000380671.2 | THCA | rs2837029 | chr21:40800371 | C/T | 6.65e-08 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LCA5L |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LCA5L |
Top |
RelatedDrugs for LCA5L |
| 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 LCA5L |
| 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)
|