|
||||||
|
 | |
| |
| |
| |
| 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 SPECC1 |
 Gene summary |
| Gene information | Gene symbol | SPECC1 | Gene ID | 92521 |
| Gene name | sperm antigen with calponin homology and coiled-coil domains 1 | |
| Synonyms | CYTSB|HCMOGT-1|HCMOGT1|NSP | |
| Cytomap | 17p11.2 | |
| Type of gene | protein-coding | |
| Description | cytospin-BNSP5cytokinesis and spindle organization Bnuclear structure protein 5sperm antigen HCMOGT-1sperm antigen with calponin-like and coiled coil domains 1structure protein NSP5a3astructure protein NSP5a3bstructure protein NSP5b3astructure pr | |
| Modification date | 20180523 | |
| UniProtAcc | Q5M775 | |
| Context | PubMed: SPECC1 [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 SPECC1 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 SPECC1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SPECC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150017 | 17 | 19912691:19912737:19921299:19921415:19960989:19961130 | 19921299:19921415 | ENSG00000128487.12 | ENST00000583528.1 |
| exon_skip_150020 | 17 | 19912691:19912737:19921299:19921415:19999943:20000021 | 19921299:19921415 | ENSG00000128487.12 | ENST00000583463.1 |
| exon_skip_150024 | 17 | 19912676:19912737:19970506:19970691:19999943:20000021 | 19970506:19970691 | ENSG00000128487.12 | ENST00000583482.2 |
| exon_skip_150030 | 17 | 19921299:19921415:19960989:19961130:19999943:20000021 | 19960989:19961130 | ENSG00000128487.12 | ENST00000583528.1 |
| exon_skip_150036 | 17 | 20013739:20013875:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENSG00000128487.12 | ENST00000395529.3,ENST00000395527.4,ENST00000261503.5 |
| exon_skip_150039 | 17 | 20059401:20059549:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENSG00000128487.12 | ENST00000395525.3,ENST00000395530.2,ENST00000395522.2 |
| exon_skip_150041 | 17 | 20135512:20135718:20149238:20149384:20150531:20150632 | 20149238:20149384 | ENSG00000128487.12 | ENST00000395530.2,ENST00000581399.1,ENST00000395527.4,ENST00000261503.5,ENST00000536879.1 |
| exon_skip_150042 | 17 | 20156817:20156899:20160763:20160920:20163504:20163607 | 20160763:20160920 | ENSG00000128487.12 | ENST00000395530.2,ENST00000581399.1,ENST00000395527.4,ENST00000261503.5,ENST00000536879.1 |
| exon_skip_150044 | 17 | 20163504:20163607:20200273:20200390:20209335:20209395 | 20200273:20200390 | ENSG00000128487.12 | ENST00000395530.2,ENST00000395527.4,ENST00000261503.5,ENST00000536879.1 |
| exon_skip_150048 | 17 | 20163504:20163607:20209335:20209395:20217288:20217451 | 20209335:20209395 | ENSG00000128487.12 | ENST00000581399.1 |
| exon_skip_150051 | 17 | 20200346:20200390:20209335:20209395:20217288:20217451 | 20209335:20209395 | ENSG00000128487.12 | ENST00000395530.2,ENST00000395527.4,ENST00000261503.5,ENST00000536879.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SPECC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150017 | 17 | 19912691:19912737:19921299:19921415:19960989:19961130 | 19921299:19921415 | ENSG00000128487.12 | ENST00000583528.1 |
| exon_skip_150020 | 17 | 19912691:19912737:19921299:19921415:19999943:20000021 | 19921299:19921415 | ENSG00000128487.12 | ENST00000583463.1 |
| exon_skip_150024 | 17 | 19912676:19912737:19970506:19970691:19999943:20000021 | 19970506:19970691 | ENSG00000128487.12 | ENST00000583482.2 |
| exon_skip_150030 | 17 | 19921299:19921415:19960989:19961130:19999943:20000021 | 19960989:19961130 | ENSG00000128487.12 | ENST00000583528.1 |
| exon_skip_150036 | 17 | 20013739:20013875:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENSG00000128487.12 | ENST00000395527.4,ENST00000395529.3,ENST00000261503.5 |
| exon_skip_150039 | 17 | 20059401:20059549:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENSG00000128487.12 | ENST00000395530.2,ENST00000395522.2,ENST00000395525.3 |
| exon_skip_150041 | 17 | 20135512:20135718:20149238:20149384:20150531:20150632 | 20149238:20149384 | ENSG00000128487.12 | ENST00000395527.4,ENST00000261503.5,ENST00000395530.2,ENST00000536879.1,ENST00000581399.1 |
| exon_skip_150042 | 17 | 20156817:20156899:20160763:20160920:20163504:20163607 | 20160763:20160920 | ENSG00000128487.12 | ENST00000395527.4,ENST00000261503.5,ENST00000395530.2,ENST00000536879.1,ENST00000581399.1 |
| exon_skip_150044 | 17 | 20163504:20163607:20200273:20200390:20209335:20209395 | 20200273:20200390 | ENSG00000128487.12 | ENST00000395527.4,ENST00000261503.5,ENST00000395530.2,ENST00000536879.1 |
| exon_skip_150048 | 17 | 20163504:20163607:20209335:20209395:20217288:20217451 | 20209335:20209395 | ENSG00000128487.12 | ENST00000581399.1 |
| exon_skip_150051 | 17 | 20200346:20200390:20209335:20209395:20217288:20217451 | 20209335:20209395 | ENSG00000128487.12 | ENST00000395527.4,ENST00000261503.5,ENST00000395530.2,ENST00000536879.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SPECC1 |
| 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 |
| ENST00000261503 | 20107645 | 20109225 | Frame-shift |
| ENST00000395527 | 20107645 | 20109225 | Frame-shift |
| ENST00000261503 | 20149238 | 20149384 | Frame-shift |
| ENST00000395527 | 20149238 | 20149384 | Frame-shift |
| ENST00000261503 | 20160763 | 20160920 | Frame-shift |
| ENST00000395527 | 20160763 | 20160920 | Frame-shift |
| ENST00000261503 | 20200273 | 20200390 | In-frame |
| ENST00000395527 | 20200273 | 20200390 | In-frame |
| ENST00000261503 | 20209335 | 20209395 | In-frame |
| ENST00000395527 | 20209335 | 20209395 | 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 |
| ENST00000261503 | 20107645 | 20109225 | Frame-shift |
| ENST00000395527 | 20107645 | 20109225 | Frame-shift |
| ENST00000261503 | 20149238 | 20149384 | Frame-shift |
| ENST00000395527 | 20149238 | 20149384 | Frame-shift |
| ENST00000261503 | 20160763 | 20160920 | Frame-shift |
| ENST00000395527 | 20160763 | 20160920 | Frame-shift |
| ENST00000261503 | 20200273 | 20200390 | In-frame |
| ENST00000395527 | 20200273 | 20200390 | In-frame |
| ENST00000261503 | 20209335 | 20209395 | In-frame |
| ENST00000395527 | 20209335 | 20209395 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SPECC1 |
| 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 |
| ENST00000261503 | 3965 | 1068 | 20200273 | 20200390 | 2992 | 3108 | 980 | 1019 |
| ENST00000395527 | 3380 | 1068 | 20200273 | 20200390 | 3024 | 3140 | 980 | 1019 |
| ENST00000261503 | 3965 | 1068 | 20209335 | 20209395 | 3109 | 3168 | 1019 | 1039 |
| ENST00000395527 | 3380 | 1068 | 20209335 | 20209395 | 3141 | 3200 | 1019 | 1039 |
| 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 |
| ENST00000261503 | 3965 | 1068 | 20200273 | 20200390 | 2992 | 3108 | 980 | 1019 |
| ENST00000395527 | 3380 | 1068 | 20200273 | 20200390 | 3024 | 3140 | 980 | 1019 |
| ENST00000261503 | 3965 | 1068 | 20209335 | 20209395 | 3109 | 3168 | 1019 | 1039 |
| ENST00000395527 | 3380 | 1068 | 20209335 | 20209395 | 3141 | 3200 | 1019 | 1039 |
| 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 |
Top |
SNVs in the skipped exons for SPECC1 |
| - 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-DD-A3A0-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20108068 | 20108068 | Frame_Shift_Del | T | - | p.F155fs |
| HNSC | TCGA-CN-5370-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20109115 | 20109115 | Frame_Shift_Del | A | - | p.K504fs |
| UCEC | TCGA-D1-A160-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20107710 | 20107711 | Frame_Shift_Ins | - | AG | p.S119fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20107710 | 20107711 | Frame_Shift_Ins | - | AG | p.S116fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20107710 | 20107711 | Frame_Shift_Ins | - | AG | p.S119fs |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20107819 | 20107819 | Nonsense_Mutation | A | T | p.K72* |
| THYM | TCGA-ZB-A964-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20107846 | 20107846 | Nonsense_Mutation | G | T | p.E162X |
| ESCA | TCGA-JY-A93F-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20108050 | 20108050 | Nonsense_Mutation | G | T | p.E230* |
| ESCA | TCGA-JY-A93F-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20108050 | 20108050 | Nonsense_Mutation | G | T | p.E230X |
| COAD | TCGA-A6-6781-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20108263 | 20108263 | Nonsense_Mutation | A | - | p.Y219X |
| COAD | TCGA-AD-6895-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20108263 | 20108263 | Nonsense_Mutation | A | - | p.Y219X |
| LUAD | TCGA-78-7539-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20108581 | 20108581 | Nonsense_Mutation | G | T | p.E326* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20109172 | 20109172 | Nonsense_Mutation | G | T | p.E604* |
| DLBC | TCGA-VB-A8QN-01 | exon_skip_150036 exon_skip_150039 | 20107646 | 20109225 | 20107645 | 20107645 | Splice_Site | G | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-VB-A8QN-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_150039 | |
| Skipped exon start: 20107646 | |
| Skipped exon end: 20109225 | |
| Mutation start: 20107645 | |
| Mutation end: 20107645 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_150039_DLBC_TCGA-VB-A8QN-01.png | |
exon_skip_457585_DLBC_TCGA-VB-A8QN-01.png | |
exon_skip_79848_DLBC_TCGA-VB-A8QN-01.png | |
 | Sample: TCGA-D1-A17H-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_150039 | |
| Skipped exon start: 20107646 | |
| Skipped exon end: 20109225 | |
| Mutation start: 20107710 | |
| Mutation end: 20107711 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: AG | |
| AAchange: p.S116fs | |
| Sample: TCGA-D1-A17H-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_150039 | |
| Skipped exon start: 20107646 | |
| Skipped exon end: 20109225 | |
| Mutation start: 20107710 | |
| Mutation end: 20107711 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: AG | |
| AAchange: p.S119fs | |
exon_skip_150039_UCEC_TCGA-D1-A17H-01.png | |
exon_skip_42594_UCEC_TCGA-D1-A17H-01.png | |
exon_skip_458036_UCEC_TCGA-D1-A17H-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 |
| HEC108_ENDOMETRIUM | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| HEC59_ENDOMETRIUM | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| SNU175_LARGE_INTESTINE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| SNUC2A_LARGE_INTESTINE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| DU145_PROSTATE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| RKO_LARGE_INTESTINE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| GP2D_LARGE_INTESTINE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| KM12_LARGE_INTESTINE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| 2313287_STOMACH | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| GP5D_LARGE_INTESTINE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| SNUC2B_LARGE_INTESTINE | 20107646 | 20109225 | 20108263 | 20108263 | Frame_Shift_Del | A | - | p.K302fs |
| DU145_PROSTATE | 20107646 | 20109225 | 20108835 | 20108835 | Frame_Shift_Del | G | - | p.L491fs |
| TGBC11TKB_STOMACH | 20149239 | 20149384 | 20149324 | 20149324 | Frame_Shift_Del | C | - | p.P814fs |
| LS411N_LARGE_INTESTINE | 20107646 | 20109225 | 20108262 | 20108263 | Frame_Shift_Ins | - | A | p.K301fs |
| MFE319_ENDOMETRIUM | 20107646 | 20109225 | 20108262 | 20108263 | Frame_Shift_Ins | - | A | p.K301fs |
| EN_ENDOMETRIUM | 20107646 | 20109225 | 20108262 | 20108263 | Frame_Shift_Ins | - | AA | p.K301fs |
| SNGM_ENDOMETRIUM | 20107646 | 20109225 | 20107730 | 20107730 | Missense_Mutation | G | A | p.R123H |
| MEWO_SKIN | 20107646 | 20109225 | 20107736 | 20107736 | Missense_Mutation | C | A | p.P125H |
| C75_LARGE_INTESTINE | 20107646 | 20109225 | 20107793 | 20107793 | Missense_Mutation | C | T | p.T144M |
| KATOIII_STOMACH | 20107646 | 20109225 | 20108040 | 20108040 | Missense_Mutation | A | G | p.I226M |
| MS1_SKIN | 20107646 | 20109225 | 20108051 | 20108051 | Missense_Mutation | A | T | p.E230V |
| SU8686_PANCREAS | 20107646 | 20109225 | 20108063 | 20108063 | Missense_Mutation | A | G | p.K234R |
| DMS153_LUNG | 20107646 | 20109225 | 20108105 | 20108105 | Missense_Mutation | G | A | p.R248Q |
| BHY_UPPER_AERODIGESTIVE_TRACT | 20107646 | 20109225 | 20108105 | 20108105 | Missense_Mutation | G | A | p.R248Q |
| ES3_BONE | 20107646 | 20109225 | 20108138 | 20108138 | Missense_Mutation | A | G | p.H259R |
| HEC151_ENDOMETRIUM | 20107646 | 20109225 | 20108158 | 20108158 | Missense_Mutation | G | A | p.A266T |
| LS411N_LARGE_INTESTINE | 20107646 | 20109225 | 20108183 | 20108183 | Missense_Mutation | G | A | p.S274N |
| SCMCRM2_SOFT_TISSUE | 20107646 | 20109225 | 20108195 | 20108195 | Missense_Mutation | C | A | p.S278Y |
| SNU1040_LARGE_INTESTINE | 20107646 | 20109225 | 20108209 | 20108209 | Missense_Mutation | T | C | p.S283P |
| NB1_AUTONOMIC_GANGLIA | 20107646 | 20109225 | 20108236 | 20108236 | Missense_Mutation | C | A | p.Q292K |
| HT115_LARGE_INTESTINE | 20107646 | 20109225 | 20108291 | 20108291 | Missense_Mutation | G | A | p.R310Q |
| NCIH28_PLEURA | 20107646 | 20109225 | 20108314 | 20108314 | Missense_Mutation | G | A | p.D318N |
| SNU1040_LARGE_INTESTINE | 20107646 | 20109225 | 20108351 | 20108351 | Missense_Mutation | A | G | p.D330G |
| ASH3_THYROID | 20107646 | 20109225 | 20108477 | 20108477 | Missense_Mutation | C | G | p.S372C |
| SW837_LARGE_INTESTINE | 20107646 | 20109225 | 20108687 | 20108687 | Missense_Mutation | A | G | p.K442R |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20107646 | 20109225 | 20108722 | 20108722 | Missense_Mutation | G | A | p.E454K |
| OVKATE_OVARY | 20107646 | 20109225 | 20108794 | 20108794 | Missense_Mutation | C | T | p.R478C |
| SW1116_LARGE_INTESTINE | 20107646 | 20109225 | 20108876 | 20108876 | Missense_Mutation | C | A | p.A505D |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20107646 | 20109225 | 20109125 | 20109125 | Missense_Mutation | G | A | p.R588Q |
| CAL51_BREAST | 20149239 | 20149384 | 20149279 | 20149279 | Missense_Mutation | G | A | p.A798T |
| NCIH1417_LUNG | 20149239 | 20149384 | 20149283 | 20149283 | Missense_Mutation | G | A | p.G799D |
| HEC108_ENDOMETRIUM | 20149239 | 20149384 | 20149336 | 20149336 | Missense_Mutation | G | A | p.A817T |
| G361_SKIN | 20160764 | 20160920 | 20160802 | 20160802 | Missense_Mutation | C | T | p.P907S |
| G361_SKIN | 20160764 | 20160920 | 20160802 | 20160803 | Missense_Mutation | CC | TT | p.P907F |
| G361_SKIN | 20160764 | 20160920 | 20160803 | 20160803 | Missense_Mutation | C | T | p.P907L |
| NCIH1618_LUNG | 20160764 | 20160920 | 20160811 | 20160811 | Missense_Mutation | C | T | p.R910C |
| SNU1040_LARGE_INTESTINE | 20160764 | 20160920 | 20160812 | 20160812 | Missense_Mutation | G | A | p.R910H |
| MEWO_SKIN | 20160764 | 20160920 | 20160848 | 20160848 | Missense_Mutation | C | T | p.P922L |
| HCT15_LARGE_INTESTINE | 20200274 | 20200390 | 20200322 | 20200322 | Missense_Mutation | T | C | p.F997L |
| EN_ENDOMETRIUM | 20200274 | 20200390 | 20200343 | 20200343 | Missense_Mutation | T | C | p.Y1004H |
| HCC2998_LARGE_INTESTINE | 20107646 | 20109225 | 20108530 | 20108530 | Nonsense_Mutation | G | T | p.E390* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPECC1 |
| 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_150036 | 17 | 20013739:20013875:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395529.3,ENST00000395527.4,ENST00000261503.5 | LGG | rs2703807 | chr17:20109189 | C/T | 1.76e-09 |
| exon_skip_150036 | 17 | 20013739:20013875:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395529.3,ENST00000395527.4,ENST00000261503.5 | LGG | rs2703805 | chr17:20107773 | T/C | 4.18e-09 |
| exon_skip_150036 | 17 | 20013739:20013875:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395529.3,ENST00000395527.4,ENST00000261503.5 | LGG | rs2703806 | chr17:20108239 | A/T | 1.23e-07 |
| exon_skip_150036 | 17 | 20013739:20013875:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395529.3,ENST00000395527.4,ENST00000261503.5 | THCA | rs2703806 | chr17:20108239 | A/T | 3.04e-03 |
| exon_skip_150039 | 17 | 20059401:20059549:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395525.3,ENST00000395530.2,ENST00000395522.2 | LGG | rs2703807 | chr17:20109189 | C/T | 1.76e-09 |
| exon_skip_150039 | 17 | 20059401:20059549:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395525.3,ENST00000395530.2,ENST00000395522.2 | LGG | rs2703805 | chr17:20107773 | T/C | 4.18e-09 |
| exon_skip_150039 | 17 | 20059401:20059549:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395525.3,ENST00000395530.2,ENST00000395522.2 | LGG | rs2703806 | chr17:20108239 | A/T | 1.23e-07 |
| exon_skip_150039 | 17 | 20059401:20059549:20107645:20109225:20130725:20130933 | 20107645:20109225 | ENST00000395525.3,ENST00000395530.2,ENST00000395522.2 | THCA | rs2703806 | chr17:20108239 | A/T | 3.04e-03 |
| exon_skip_150024 | 17 | 19912676:19912737:19970506:19970691:19999943:20000021 | 19970506:19970691 | ENST00000583482.2 | LGG | rs28644386 | chr17:19970566 | T/C | 9.79e-04 |
| exon_skip_150024 | 17 | 19912676:19912737:19970506:19970691:19999943:20000021 | 19970506:19970691 | ENST00000583482.2 | TGCT | rs28644386 | chr17:19970566 | T/C | 5.47e-04 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPECC1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPECC1 |
Top |
RelatedDrugs for SPECC1 |
| 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 SPECC1 |
| 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)
|