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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 NHS |
 Gene summary |
| Gene information | Gene symbol | NHS | Gene ID | 4810 |
| Gene name | NHS actin remodeling regulator | |
| Synonyms | CTRCT40|CXN|SCML1 | |
| Cytomap | Xp22.2-p22.13 | |
| Type of gene | protein-coding | |
| Description | Nance-Horan syndrome proteinNance-Horan syndrome (congenital cataracts and dental anomalies)congenital cataracts and dental anomalies protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q6T4R5 | |
| Context | PubMed: NHS [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 NHS 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 NHS |
| 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 NHS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509387 | X | 17710454:17710588:17737463:17737526:17739560:17739716 | 17737463:17737526 | ENSG00000188158.10 | ENST00000398097.3 |
| exon_skip_509389 | X | 17742418:17742550:17743466:17746448:17746768:17746895 | 17743466:17746448 | ENSG00000188158.10 | ENST00000398097.3,ENST00000380060.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NHS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509387 | X | 17710454:17710588:17737463:17737526:17739560:17739716 | 17737463:17737526 | ENSG00000188158.10 | ENST00000398097.3 |
| exon_skip_509389 | X | 17742418:17742550:17743466:17746448:17746768:17746895 | 17743466:17746448 | ENSG00000188158.10 | ENST00000380060.3,ENST00000398097.3 |
| 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 NHS |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for NHS |
| 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 NHS |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509389 | 17743467 | 17746448 | 17743599 | 17743599 | Frame_Shift_Del | C | - | p.A437fs |
| LIHC | TCGA-DD-AADR-01 | exon_skip_509389 | 17743467 | 17746448 | 17745169 | 17745169 | Frame_Shift_Del | A | - | p.P960fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_509389 | 17743467 | 17746448 | 17745183 | 17745183 | Frame_Shift_Del | C | - | p.S965fs |
| BRCA | TCGA-BH-A0C3-01 | exon_skip_509389 | 17743467 | 17746448 | 17745442 | 17745443 | Frame_Shift_Del | TA | - | p.S1053fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_509389 | 17743467 | 17746448 | 17745472 | 17745472 | Frame_Shift_Del | A | - | p.P1061fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_509389 | 17743467 | 17746448 | 17745687 | 17745687 | Frame_Shift_Del | A | - | p.Q1133fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509389 | 17743467 | 17746448 | 17745879 | 17745879 | Frame_Shift_Del | A | - | p.E1197fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_509389 | 17743467 | 17746448 | 17745879 | 17745879 | Frame_Shift_Del | A | - | p.E1197fs |
| UCEC | TCGA-AX-A05Y-01 | exon_skip_509389 | 17743467 | 17746448 | 17745879 | 17745879 | Frame_Shift_Del | A | - | p.E1218fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_509389 | 17743467 | 17746448 | 17746019 | 17746019 | Frame_Shift_Del | A | - | p.K1244fs |
| LIHC | TCGA-BC-A10T-01 | exon_skip_509389 | 17743467 | 17746448 | 17745303 | 17745304 | Frame_Shift_Ins | - | A | p.*1005fs |
| HNSC | TCGA-CN-A63U-01 | exon_skip_509389 | 17743467 | 17746448 | 17743958 | 17743958 | Nonsense_Mutation | G | T | p.E557* |
| COAD | TCGA-D5-6927-01 | exon_skip_509389 | 17743467 | 17746448 | 17743982 | 17743982 | Nonsense_Mutation | C | T | p.R409X |
| CESC | TCGA-JW-A5VL-01 | exon_skip_509389 | 17743467 | 17746448 | 17744156 | 17744156 | Nonsense_Mutation | C | T | p.Q623* |
| BLCA | TCGA-FD-A6TK-01 | exon_skip_509389 | 17743467 | 17746448 | 17744282 | 17744282 | Nonsense_Mutation | C | T | p.Q665* |
| LUAD | TCGA-55-A4DF-01 | exon_skip_509389 | 17743467 | 17746448 | 17744529 | 17744529 | Nonsense_Mutation | C | G | p.S747* |
| LUSC | TCGA-39-5030-01 | exon_skip_509389 | 17743467 | 17746448 | 17744705 | 17744705 | Nonsense_Mutation | C | T | p.Q827* |
| LGG | TCGA-DB-A64W-01 | exon_skip_509389 | 17743467 | 17746448 | 17744930 | 17744930 | Nonsense_Mutation | G | T | p.E725X |
| LGG | TCGA-DB-A64W-01 | exon_skip_509389 | 17743467 | 17746448 | 17744930 | 17744930 | Nonsense_Mutation | G | T | p.E881* |
| CESC | TCGA-DG-A2KK-01 | exon_skip_509389 | 17743467 | 17746448 | 17745123 | 17745123 | Nonsense_Mutation | C | G | p.S945* |
| KICH | TCGA-KL-8327-01 | exon_skip_509389 | 17743467 | 17746448 | 17745123 | 17745123 | Nonsense_Mutation | C | A | p.S966* |
| CESC | TCGA-EK-A2R8-01 | exon_skip_509389 | 17743467 | 17746448 | 17746202 | 17746202 | Nonsense_Mutation | C | T | p.Q1305* |
| BLCA | TCGA-XF-AAN0-01 | exon_skip_509389 | 17743467 | 17746448 | 17746329 | 17746329 | Nonsense_Mutation | C | G | p.S1347* |
| - 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 |
| HEC265_ENDOMETRIUM | 17743467 | 17746448 | 17745879 | 17745879 | Frame_Shift_Del | A | - | p.E1197fs |
| SNU520_STOMACH | 17737464 | 17737526 | 17737476 | 17737476 | Missense_Mutation | C | T | p.R112C |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17737464 | 17737526 | 17737509 | 17737509 | Missense_Mutation | A | G | p.T123A |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17737464 | 17737526 | 17737509 | 17737509 | Missense_Mutation | A | G | p.T123A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 17737464 | 17737526 | 17737509 | 17737509 | Missense_Mutation | A | G | p.T123A |
| NCIH1435_LUNG | 17737464 | 17737526 | 17737512 | 17737512 | Missense_Mutation | C | A | p.P124T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 17743467 | 17746448 | 17743548 | 17743549 | Missense_Mutation | TA | GG | p.I420R |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17743548 | 17743549 | Missense_Mutation | TA | GG | p.I420R |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17743548 | 17743549 | Missense_Mutation | TA | GG | p.I420R |
| KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17743580 | 17743580 | Missense_Mutation | G | A | p.E431K |
| JHUEM7_ENDOMETRIUM | 17743467 | 17746448 | 17743634 | 17743634 | Missense_Mutation | C | A | p.Q449K |
| UACC812_BREAST | 17743467 | 17746448 | 17743695 | 17743695 | Missense_Mutation | G | T | p.G469V |
| C33A_CERVIX | 17743467 | 17746448 | 17743728 | 17743728 | Missense_Mutation | G | A | p.R480H |
| HT115_LARGE_INTESTINE | 17743467 | 17746448 | 17743728 | 17743728 | Missense_Mutation | G | A | p.R480H |
| A101D_SKIN | 17743467 | 17746448 | 17743740 | 17743740 | Missense_Mutation | G | A | p.R484Q |
| HS294T_SKIN | 17743467 | 17746448 | 17743740 | 17743740 | Missense_Mutation | G | A | p.R484Q |
| JHUEM7_ENDOMETRIUM | 17743467 | 17746448 | 17743853 | 17743853 | Missense_Mutation | A | G | p.N522D |
| HT115_LARGE_INTESTINE | 17743467 | 17746448 | 17743983 | 17743983 | Missense_Mutation | G | A | p.R565Q |
| HEC1_ENDOMETRIUM | 17743467 | 17746448 | 17744133 | 17744133 | Missense_Mutation | G | T | p.G615V |
| HEC1B_ENDOMETRIUM | 17743467 | 17746448 | 17744133 | 17744133 | Missense_Mutation | G | T | p.G615V |
| RL952_ENDOMETRIUM | 17743467 | 17746448 | 17744273 | 17744273 | Missense_Mutation | G | A | p.V662M |
| COLO792_SKIN | 17743467 | 17746448 | 17744434 | 17744435 | Missense_Mutation | GG | AA | p.D716N |
| CAL51_BREAST | 17743467 | 17746448 | 17744450 | 17744450 | Missense_Mutation | C | T | p.R721C |
| HT55_LARGE_INTESTINE | 17743467 | 17746448 | 17744528 | 17744528 | Missense_Mutation | T | A | p.S747T |
| NCIH2066_LUNG | 17743467 | 17746448 | 17744619 | 17744619 | Missense_Mutation | A | G | p.K777R |
| HT29_LARGE_INTESTINE | 17743467 | 17746448 | 17744714 | 17744714 | Missense_Mutation | T | G | p.L809V |
| NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17744741 | 17744741 | Missense_Mutation | A | C | p.S818R |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17744936 | 17744936 | Missense_Mutation | G | A | p.A883T |
| SNU878_LIVER | 17743467 | 17746448 | 17744958 | 17744958 | Missense_Mutation | A | G | p.E890G |
| D392MG_CENTRAL_NERVOUS_SYSTEM | 17743467 | 17746448 | 17745047 | 17745047 | Missense_Mutation | G | A | p.E920K |
| HCC2998_LARGE_INTESTINE | 17743467 | 17746448 | 17745047 | 17745047 | Missense_Mutation | G | A | p.E920K |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17745080 | 17745080 | Missense_Mutation | A | G | p.N931D |
| JL1_PLEURA | 17743467 | 17746448 | 17745095 | 17745095 | Missense_Mutation | A | G | p.N936D |
| JHH5_LIVER | 17743467 | 17746448 | 17745280 | 17745280 | Missense_Mutation | G | T | p.L997F |
| SKOV3_OVARY | 17743467 | 17746448 | 17745381 | 17745381 | Missense_Mutation | G | A | p.R1031K |
| JHUEM7_ENDOMETRIUM | 17743467 | 17746448 | 17745559 | 17745559 | Missense_Mutation | T | G | p.F1090L |
| EVSAT_BREAST | 17743467 | 17746448 | 17745765 | 17745765 | Missense_Mutation | T | C | p.I1159T |
| GP5D_LARGE_INTESTINE | 17743467 | 17746448 | 17745870 | 17745870 | Missense_Mutation | T | G | p.L1194R |
| SISO_CERVIX | 17743467 | 17746448 | 17745904 | 17745904 | Missense_Mutation | G | C | p.K1205N |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17745904 | 17745904 | Missense_Mutation | G | C | p.K1205N |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17745921 | 17745921 | Missense_Mutation | A | T | p.E1211V |
| HCT116_LARGE_INTESTINE | 17743467 | 17746448 | 17746067 | 17746067 | Missense_Mutation | C | T | p.R1260C |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17743467 | 17746448 | 17746098 | 17746098 | Missense_Mutation | A | G | p.Q1270R |
| SKMES1_LUNG | 17743467 | 17746448 | 17746104 | 17746104 | Missense_Mutation | G | T | p.G1272V |
| T47D_BREAST | 17743467 | 17746448 | 17746124 | 17746124 | Missense_Mutation | C | G | p.L1279V |
| LN405_CENTRAL_NERVOUS_SYSTEM | 17743467 | 17746448 | 17746173 | 17746173 | Missense_Mutation | A | G | p.Q1295R |
| KYSE150_OESOPHAGUS | 17743467 | 17746448 | 17746182 | 17746182 | Missense_Mutation | C | A | p.S1298Y |
| HEP3B217_LIVER | 17743467 | 17746448 | 17746214 | 17746214 | Missense_Mutation | C | A | p.P1309T |
| CHLA218_BONE | 17743467 | 17746448 | 17746217 | 17746217 | Missense_Mutation | A | G | p.T1310A |
| JOPACA1_PANCREAS | 17743467 | 17746448 | 17746308 | 17746308 | Missense_Mutation | C | T | p.S1340L |
| A204_SOFT_TISSUE | 17743467 | 17746448 | 17746430 | 17746430 | Missense_Mutation | G | T | p.D1381Y |
| TTC642_SOFT_TISSUE | 17743467 | 17746448 | 17746430 | 17746430 | Missense_Mutation | G | T | p.D1381Y |
| MDAMB330_BREAST | 17743467 | 17746448 | 17744395 | 17744395 | Nonsense_Mutation | G | A | p.W702* |
| NCIH2342_LUNG | 17743467 | 17746448 | 17745805 | 17745805 | Nonsense_Mutation | C | A | p.Y1172* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NHS |
| 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 NHS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NHS |
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RelatedDrugs for NHS |
| 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 NHS |
| 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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