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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 DYNC2H1 |
 Gene summary |
| Gene information | Gene symbol | DYNC2H1 | Gene ID | 79659 |
| Gene name | dynein cytoplasmic 2 heavy chain 1 | |
| Synonyms | ATD3|DHC1b|DHC2|DNCH2|DYH1B|SRPS2B|SRTD3|hdhc11 | |
| Cytomap | 11q22.3 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic dynein 2 heavy chain 1dynein cytoplasmic heavy chain 2dynein heavy chain 11dynein heavy chain, isotype 1Bdynein, cytoplasmic, heavy polypeptide 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NCM8 | |
| Context | PubMed: DYNC2H1 [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 |
| DYNC2H1 | GO:0007030 | Golgi organization | 8666668 |
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Exon skipping events across known transcript of Ensembl for DYNC2H1 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 DYNC2H1 |
| 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 DYNC2H1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64676 | 11 | 102984831:102984967:102985905:102986024:102987298:102987443 | 102985905:102986024 | ENSG00000187240.9 | ENST00000334267.7,ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64677 | 11 | 103027116:103027499:103029405:103029538:103029638:103029756 | 103029405:103029538 | ENSG00000187240.9 | ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64678 | 11 | 103060400:103060545:103062245:103062348:103062825:103062993 | 103062245:103062348 | ENSG00000187240.9 | ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64680 | 11 | 103090643:103090757:103091351:103091512:103092758:103092882 | 103091351:103091512 | ENSG00000187240.9 | ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64681 | 11 | 103107158:103107268:103112255:103112276:103114421:103114520 | 103112255:103112276 | ENSG00000187240.9 | ENST00000398093.3 |
| exon_skip_64683 | 11 | 103153745:103153814:103156983:103157115:103158261:103158334 | 103156983:103157115 | ENSG00000187240.9 | ENST00000525306.1,ENST00000528670.1,ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64686 | 11 | 103156983:103157115:103158261:103158334:103173821:103173982 | 103158261:103158334 | ENSG00000187240.9 | ENST00000528670.1,ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64689 | 11 | 103182606:103182762:103187273:103187349:103191757:103191966 | 103187273:103187349 | ENSG00000187240.9 | ENST00000528670.1,ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64690 | 11 | 103194613:103194718:103228970:103229087:103270390:103270600 | 103228970:103229087 | ENSG00000187240.9 | ENST00000528670.1,ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64693 | 11 | 103228970:103229087:103270390:103270600:103306670:103306760 | 103270390:103270600 | ENSG00000187240.9 | ENST00000528670.1,ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64696 | 11 | 103325913:103326023:103327002:103327084:103339316:103339433 | 103327002:103327084 | ENSG00000187240.9 | ENST00000530547.1,ENST00000533197.1,ENST00000528670.1,ENST00000334267.7,ENST00000398093.3,ENST00000375735.2 |
| exon_skip_64697 | 11 | 103327002:103327084:103339316:103339433:103349822:103349981 | 103339316:103339433 | ENSG00000187240.9 | ENST00000530547.1,ENST00000533197.1,ENST00000528670.1,ENST00000334267.7,ENST00000398093.3,ENST00000375735.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DYNC2H1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64676 | 11 | 102984831:102984967:102985905:102986024:102987298:102987443 | 102985905:102986024 | ENSG00000187240.9 | ENST00000375735.2,ENST00000334267.7,ENST00000398093.3 |
| exon_skip_64677 | 11 | 103027116:103027499:103029405:103029538:103029638:103029756 | 103029405:103029538 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3 |
| exon_skip_64678 | 11 | 103060400:103060545:103062245:103062348:103062825:103062993 | 103062245:103062348 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3 |
| exon_skip_64680 | 11 | 103090643:103090757:103091351:103091512:103092758:103092882 | 103091351:103091512 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3 |
| exon_skip_64681 | 11 | 103107158:103107268:103112255:103112276:103114421:103114520 | 103112255:103112276 | ENSG00000187240.9 | ENST00000398093.3 |
| exon_skip_64683 | 11 | 103153745:103153814:103156983:103157115:103158261:103158334 | 103156983:103157115 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3,ENST00000525306.1,ENST00000528670.1 |
| exon_skip_64686 | 11 | 103156983:103157115:103158261:103158334:103173821:103173982 | 103158261:103158334 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3,ENST00000528670.1 |
| exon_skip_64689 | 11 | 103182606:103182762:103187273:103187349:103191757:103191966 | 103187273:103187349 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3,ENST00000528670.1 |
| exon_skip_64690 | 11 | 103194613:103194718:103228970:103229087:103270390:103270600 | 103228970:103229087 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3,ENST00000528670.1 |
| exon_skip_64693 | 11 | 103228970:103229087:103270390:103270600:103306670:103306760 | 103270390:103270600 | ENSG00000187240.9 | ENST00000375735.2,ENST00000398093.3,ENST00000528670.1 |
| exon_skip_64696 | 11 | 103325913:103326023:103327002:103327084:103339316:103339433 | 103327002:103327084 | ENSG00000187240.9 | ENST00000375735.2,ENST00000334267.7,ENST00000398093.3,ENST00000528670.1,ENST00000533197.1,ENST00000530547.1 |
| exon_skip_64697 | 11 | 103327002:103327084:103339316:103339433:103349822:103349981 | 103339316:103339433 | ENSG00000187240.9 | ENST00000375735.2,ENST00000334267.7,ENST00000398093.3,ENST00000528670.1,ENST00000533197.1,ENST00000530547.1 |
| 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 DYNC2H1 |
| 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 |
| ENST00000375735 | 102985905 | 102986024 | Frame-shift |
| ENST00000375735 | 103029405 | 103029538 | Frame-shift |
| ENST00000375735 | 103062245 | 103062348 | Frame-shift |
| ENST00000375735 | 103091351 | 103091512 | Frame-shift |
| ENST00000375735 | 103158261 | 103158334 | Frame-shift |
| ENST00000375735 | 103187273 | 103187349 | Frame-shift |
| ENST00000375735 | 103327002 | 103327084 | Frame-shift |
| ENST00000375735 | 103156983 | 103157115 | In-frame |
| ENST00000375735 | 103228970 | 103229087 | In-frame |
| ENST00000375735 | 103270390 | 103270600 | In-frame |
| ENST00000375735 | 103339316 | 103339433 | 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 |
| ENST00000375735 | 102985905 | 102986024 | Frame-shift |
| ENST00000375735 | 103029405 | 103029538 | Frame-shift |
| ENST00000375735 | 103062245 | 103062348 | Frame-shift |
| ENST00000375735 | 103091351 | 103091512 | Frame-shift |
| ENST00000375735 | 103158261 | 103158334 | Frame-shift |
| ENST00000375735 | 103187273 | 103187349 | Frame-shift |
| ENST00000375735 | 103327002 | 103327084 | Frame-shift |
| ENST00000375735 | 103156983 | 103157115 | In-frame |
| ENST00000375735 | 103228970 | 103229087 | In-frame |
| ENST00000375735 | 103270390 | 103270600 | In-frame |
| ENST00000375735 | 103339316 | 103339433 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DYNC2H1 |
| 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 |
| ENST00000375735 | 13695 | 4307 | 103156983 | 103157115 | 11035 | 11166 | 3630 | 3674 |
| ENST00000375735 | 13695 | 4307 | 103228970 | 103229087 | 12184 | 12300 | 4013 | 4052 |
| ENST00000375735 | 13695 | 4307 | 103270390 | 103270600 | 12301 | 12510 | 4052 | 4122 |
| ENST00000375735 | 13695 | 4307 | 103339316 | 103339433 | 12793 | 12909 | 4216 | 4255 |
| 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 |
| ENST00000375735 | 13695 | 4307 | 103156983 | 103157115 | 11035 | 11166 | 3630 | 3674 |
| ENST00000375735 | 13695 | 4307 | 103228970 | 103229087 | 12184 | 12300 | 4013 | 4052 |
| ENST00000375735 | 13695 | 4307 | 103270390 | 103270600 | 12301 | 12510 | 4052 | 4122 |
| ENST00000375735 | 13695 | 4307 | 103339316 | 103339433 | 12793 | 12909 | 4216 | 4255 |
| 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 DYNC2H1 |
| - 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-A39Y-01 | exon_skip_64676 | 102985906 | 102986024 | 102985935 | 102985935 | Frame_Shift_Del | T | - | p.F178fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_64676 | 102985906 | 102986024 | 102985994 | 102985994 | Frame_Shift_Del | T | - | p.Y197fs |
| THCA | TCGA-EL-A3GO-01 | exon_skip_64677 | 103029406 | 103029538 | 103029464 | 103029464 | Frame_Shift_Del | G | - | p.G1396fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_64686 | 103158262 | 103158334 | 103158325 | 103158325 | Frame_Shift_Del | A | - | p.C3702X |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_64686 | 103158262 | 103158334 | 103158325 | 103158325 | Frame_Shift_Del | A | - | p.K3696fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_64689 | 103187274 | 103187349 | 103187295 | 103187295 | Frame_Shift_Del | T | - | p.F3891fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_64689 | 103187274 | 103187349 | 103187295 | 103187295 | Frame_Shift_Del | T | - | p.F3891fs |
| CESC | TCGA-C5-A1BL-01 | exon_skip_64689 | 103187274 | 103187349 | 103187327 | 103187327 | Frame_Shift_Del | C | - | p.N3901fs |
| ESCA | TCGA-L5-A4OR-01 | exon_skip_64689 | 103187274 | 103187349 | 103187341 | 103187341 | Frame_Shift_Del | T | - | p.F3914fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_64690 | 103228971 | 103229087 | 103229019 | 103229019 | Frame_Shift_Del | A | - | p.K4030fs |
| BRCA | TCGA-A8-A084-01 | exon_skip_64693 | 103270391 | 103270600 | 103270428 | 103270429 | Frame_Shift_Ins | - | CGAT | p.Q4075fs |
| COAD | TCGA-CA-6717-01 | exon_skip_64676 | 102985906 | 102986024 | 102986001 | 102986001 | Nonsense_Mutation | G | T | p.E200X |
| UCEC | TCGA-D1-A103-01 | exon_skip_64676 | 102985906 | 102986024 | 102986001 | 102986001 | Nonsense_Mutation | G | T | p.E200* |
| COAD | TCGA-CA-6718-01 | exon_skip_64677 | 103029406 | 103029538 | 103029527 | 103029527 | Nonsense_Mutation | G | T | p.E1417X |
| BLCA | TCGA-BT-A3PK-01 | exon_skip_64693 | 103270391 | 103270600 | 103270433 | 103270433 | Nonsense_Mutation | C | T | p.R4067* |
| - 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 |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103187274 | 103187349 | 103187324 | 103187324 | Frame_Shift_Del | C | - | p.Y3900fs |
| CW2_LARGE_INTESTINE | 103029406 | 103029538 | 103029459 | 103029459 | Missense_Mutation | A | G | p.H1394R |
| HCC2998_LARGE_INTESTINE | 103029406 | 103029538 | 103029485 | 103029485 | Missense_Mutation | A | G | p.T1403A |
| EW13_BONE | 103029406 | 103029538 | 103029495 | 103029495 | Missense_Mutation | A | G | p.D1406G |
| NCIH1975_LUNG | 103029406 | 103029538 | 103029499 | 103029499 | Missense_Mutation | G | T | p.Q1407H |
| TMK1_STOMACH | 103062246 | 103062348 | 103062331 | 103062331 | Missense_Mutation | G | T | p.R2508I |
| SNUC5_LARGE_INTESTINE | 103091352 | 103091512 | 103091429 | 103091429 | Missense_Mutation | G | A | p.M3008I |
| OVCA433_OVARY | 103156984 | 103157115 | 103156993 | 103156993 | Missense_Mutation | C | T | p.P3634S |
| DU145_PROSTATE | 103156984 | 103157115 | 103157011 | 103157011 | Missense_Mutation | C | A | p.L3640I |
| NCIH1930_LUNG | 103156984 | 103157115 | 103157051 | 103157051 | Missense_Mutation | A | G | p.N3653S |
| HEC6_ENDOMETRIUM | 103156984 | 103157115 | 103157075 | 103157075 | Missense_Mutation | T | C | p.F3661S |
| UDSCC2_UPPER_AERODIGESTIVE_TRACT | 103156984 | 103157115 | 103157110 | 103157110 | Missense_Mutation | C | G | p.Q3673E |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103187274 | 103187349 | 103187303 | 103187303 | Missense_Mutation | A | C | p.L3893F |
| SISO_CERVIX | 103187274 | 103187349 | 103187314 | 103187314 | Missense_Mutation | G | T | p.R3897L |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103187274 | 103187349 | 103187314 | 103187314 | Missense_Mutation | G | T | p.R3897L |
| KATOIII_STOMACH | 103187274 | 103187349 | 103187320 | 103187320 | Missense_Mutation | G | T | p.G3899V |
| NCIH1299_LUNG | 103187274 | 103187349 | 103187323 | 103187323 | Missense_Mutation | A | G | p.Y3900C |
| CALU1_LUNG | 103228971 | 103229087 | 103229049 | 103229049 | Missense_Mutation | C | A | p.L4040I |
| CAKI2_KIDNEY | 103270391 | 103270600 | 103270430 | 103270430 | Missense_Mutation | G | A | p.D4066N |
| HUCCT1_BILIARY_TRACT | 103270391 | 103270600 | 103270430 | 103270430 | Missense_Mutation | G | T | p.D4066Y |
| CAKI2_KIDNEY | 103270391 | 103270600 | 103270434 | 103270434 | Missense_Mutation | G | T | p.R4067L |
| 2313287_STOMACH | 103270391 | 103270600 | 103270484 | 103270484 | Missense_Mutation | A | T | p.I4084F |
| NCIH1793_LUNG | 103270391 | 103270600 | 103270500 | 103270500 | Missense_Mutation | G | T | p.S4089I |
| MDAPCA2B_PROSTATE | 103270391 | 103270600 | 103270502 | 103270502 | Missense_Mutation | G | A | p.V4090I |
| SNU81_LARGE_INTESTINE | 103270391 | 103270600 | 103270511 | 103270511 | Missense_Mutation | T | G | p.S4093A |
| HT115_LARGE_INTESTINE | 103270391 | 103270600 | 103270542 | 103270542 | Missense_Mutation | G | A | p.G4103E |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103327003 | 103327084 | 103327020 | 103327020 | Missense_Mutation | T | C | p.V4195A |
| KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103327003 | 103327084 | 103327031 | 103327031 | Missense_Mutation | A | C | p.K4199Q |
| ASH3_THYROID | 103339317 | 103339433 | 103339424 | 103339424 | Missense_Mutation | G | T | p.W4252C |
| SW48_LARGE_INTESTINE | 103339317 | 103339433 | 103339429 | 103339429 | Missense_Mutation | C | T | p.P4254L |
| HCC2998_LARGE_INTESTINE | 102985906 | 102986024 | 102986001 | 102986001 | Nonsense_Mutation | G | T | p.E200* |
| SW626_OVARY | 103156984 | 103157115 | 103157046 | 103157046 | Nonsense_Mutation | T | A | p.Y3651* |
| OVCAR5_OVARY | 103228971 | 103229087 | 103229087 | 103229087 | Splice_Site | G | A | p.Q4052Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DYNC2H1 |
| 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 DYNC2H1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DYNC2H1 |
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RelatedDrugs for DYNC2H1 |
| 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 DYNC2H1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DYNC2H1 | C0036069 | Saldino-Noonan Syndrome | 4 | UNIPROT |
| DYNC2H1 | C0036996 | Short Rib-Polydactyly Syndrome | 1 | CTD_human |
| DYNC2H1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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