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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 STARD8 |
 Gene summary |
| Gene information | Gene symbol | STARD8 | Gene ID | 9754 |
| Gene name | StAR related lipid transfer domain containing 8 | |
| Synonyms | ARHGAP38|DLC3|STARTGAP3 | |
| Cytomap | Xq13.1 | |
| Type of gene | protein-coding | |
| Description | stAR-related lipid transfer protein 8START domain containing 8StAR-related lipid transfer (START) domain containing 8deleted in liver cancer 3 protein | |
| Modification date | 20180329 | |
| UniProtAcc | Q92502 | |
| Context | PubMed: STARD8 [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 STARD8 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 STARD8 |
| 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 STARD8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510949 | X | 67932758:67932827:67935135:67935217:67936209:67936273 | 67935135:67935217 | ENSG00000130052.9 | ENST00000374597.3,ENST00000374599.3 |
| exon_skip_510953 | X | 67936209:67936273:67937053:67938471:67939066:67939240 | 67937053:67938471 | ENSG00000130052.9 | ENST00000252336.6,ENST00000374597.3,ENST00000523864.1,ENST00000374599.3 |
| exon_skip_510954 | X | 67940765:67940964:67941377:67941588:67941888:67942003 | 67941377:67941588 | ENSG00000130052.9 | ENST00000252336.6,ENST00000374597.3,ENST00000523864.1,ENST00000374599.3 |
| exon_skip_510956 | X | 67942263:67942488:67943467:67943685:67943786:67943963 | 67943467:67943685 | ENSG00000130052.9 | ENST00000252336.6,ENST00000374597.3,ENST00000523864.1,ENST00000374599.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STARD8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510949 | X | 67932758:67932827:67935135:67935217:67936209:67936273 | 67935135:67935217 | ENSG00000130052.9 | ENST00000374599.3,ENST00000374597.3 |
| exon_skip_510953 | X | 67936209:67936273:67937053:67938471:67939066:67939240 | 67937053:67938471 | ENSG00000130052.9 | ENST00000523864.1,ENST00000252336.6,ENST00000374599.3,ENST00000374597.3 |
| exon_skip_510954 | X | 67940765:67940964:67941377:67941588:67941888:67942003 | 67941377:67941588 | ENSG00000130052.9 | ENST00000523864.1,ENST00000252336.6,ENST00000374599.3,ENST00000374597.3 |
| exon_skip_510956 | X | 67942263:67942488:67943467:67943685:67943786:67943963 | 67943467:67943685 | ENSG00000130052.9 | ENST00000523864.1,ENST00000252336.6,ENST00000374599.3,ENST00000374597.3 |
| 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 STARD8 |
| 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 |
| ENST00000374597 | 67935135 | 67935217 | 5UTR-5UTR |
| ENST00000252336 | 67937053 | 67938471 | Frame-shift |
| ENST00000374597 | 67937053 | 67938471 | Frame-shift |
| ENST00000252336 | 67941377 | 67941588 | Frame-shift |
| ENST00000374597 | 67941377 | 67941588 | Frame-shift |
| ENST00000252336 | 67943467 | 67943685 | Frame-shift |
| ENST00000374597 | 67943467 | 67943685 | Frame-shift |
| 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 |
| ENST00000374597 | 67935135 | 67935217 | 5UTR-5UTR |
| ENST00000252336 | 67937053 | 67938471 | Frame-shift |
| ENST00000374597 | 67937053 | 67938471 | Frame-shift |
| ENST00000252336 | 67941377 | 67941588 | Frame-shift |
| ENST00000374597 | 67941377 | 67941588 | Frame-shift |
| ENST00000252336 | 67943467 | 67943685 | Frame-shift |
| ENST00000374597 | 67943467 | 67943685 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for STARD8 |
| 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 STARD8 |
| - 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 |
| LUAD | TCGA-75-6211-01 | exon_skip_510953 | 67937054 | 67938471 | 67937113 | 67937113 | Frame_Shift_Del | G | - | p.Q39fs |
| LUSC | TCGA-66-2789-01 | exon_skip_510953 | 67937054 | 67938471 | 67937289 | 67937289 | Frame_Shift_Del | C | - | p.A178fs |
| READ | TCGA-EI-6882-01 | exon_skip_510953 | 67937054 | 67938471 | 67937943 | 67937944 | Frame_Shift_Del | GG | - | p.396_396del |
| LIHC | TCGA-WX-AA47-01 | exon_skip_510953 | 67937054 | 67938471 | 67938119 | 67938126 | Frame_Shift_Del | TGGGCCCA | - | p.454_457del |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_510953 | 67937054 | 67938471 | 67938120 | 67938120 | Frame_Shift_Del | G | - | p.W375fs |
| LUAD | TCGA-78-7147-01 | exon_skip_510953 | 67937054 | 67938471 | 67938187 | 67938187 | Frame_Shift_Del | G | - | p.V397fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_510953 | 67937054 | 67938471 | 67938225 | 67938225 | Frame_Shift_Del | C | - | p.A410fs |
| KIRC | TCGA-A3-3308-01 | exon_skip_510956 | 67943468 | 67943685 | 67943519 | 67943520 | Frame_Shift_Ins | - | C | p.P871fs |
| LUAD | TCGA-17-Z033-01 | exon_skip_510956 | 67943468 | 67943685 | 67943519 | 67943520 | Frame_Shift_Ins | - | C | p.P871fs |
| SKCM | TCGA-D9-A1JX-06 | exon_skip_510956 | 67943468 | 67943685 | 67943519 | 67943520 | Frame_Shift_Ins | - | C | p.P871fs |
| LUAD | TCGA-44-7671-01 | exon_skip_510953 | 67937054 | 67938471 | 67937210 | 67937210 | Nonsense_Mutation | G | T | p.E72* |
| LUSC | TCGA-37-3783-01 | exon_skip_510953 | 67937054 | 67938471 | 67937591 | 67937591 | Nonsense_Mutation | G | T | p.E279* |
| THYM | TCGA-XU-A92V-01 | exon_skip_510953 | 67937054 | 67938471 | 67938401 | 67938401 | Nonsense_Mutation | G | T | p.G549X |
| CESC | TCGA-JX-A3Q0-01 | exon_skip_510956 | 67943468 | 67943685 | 67943510 | 67943510 | Nonsense_Mutation | G | T | p.E948* |
| BRCA | TCGA-E9-A22D-01 | exon_skip_510949 | 67935136 | 67935217 | 67935135 | 67935135 | Splice_Site | G | C | e4-1 |
| - 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 |
| RKO_LARGE_INTESTINE | 67943468 | 67943685 | 67943520 | 67943520 | Frame_Shift_Del | C | - | p.A871fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 67943468 | 67943685 | 67943520 | 67943520 | Frame_Shift_Del | C | - | p.A871fs |
| SARC9371_BONE | 67937054 | 67938471 | 67938206 | 67938217 | In_Frame_Del | GCCCCGGCCCCA | - | p.APAP408del |
| MCC13_SKIN | 67937054 | 67938471 | 67937262 | 67937262 | Missense_Mutation | C | T | p.P89L |
| OVCA433_OVARY | 67937054 | 67938471 | 67937273 | 67937273 | Missense_Mutation | C | A | p.P93T |
| HEC151_ENDOMETRIUM | 67937054 | 67938471 | 67937546 | 67937546 | Missense_Mutation | G | A | p.A184T |
| COLO792_SKIN | 67937054 | 67938471 | 67937565 | 67937565 | Missense_Mutation | G | A | p.S190N |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67937054 | 67938471 | 67937567 | 67937567 | Missense_Mutation | G | T | p.G191C |
| NCIH2073_LUNG | 67937054 | 67938471 | 67937580 | 67937580 | Missense_Mutation | G | A | p.R195Q |
| NCIH1993_LUNG | 67937054 | 67938471 | 67937580 | 67937580 | Missense_Mutation | G | A | p.R195Q |
| SNGM_ENDOMETRIUM | 67937054 | 67938471 | 67937780 | 67937780 | Missense_Mutation | C | T | p.R262W |
| SNU520_STOMACH | 67937054 | 67938471 | 67937780 | 67937780 | Missense_Mutation | C | T | p.R262W |
| HEC1B_ENDOMETRIUM | 67937054 | 67938471 | 67937799 | 67937799 | Missense_Mutation | C | T | p.T268M |
| INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67937054 | 67938471 | 67937837 | 67937837 | Missense_Mutation | C | A | p.L281M |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67937054 | 67938471 | 67937862 | 67937862 | Missense_Mutation | T | G | p.V289G |
| RDES_BONE | 67937054 | 67938471 | 67937904 | 67937904 | Missense_Mutation | G | A | p.G303D |
| SHP77_LUNG | 67937054 | 67938471 | 67937939 | 67937939 | Missense_Mutation | G | A | p.V315M |
| HEC265_ENDOMETRIUM | 67937054 | 67938471 | 67938047 | 67938047 | Missense_Mutation | A | G | p.T351A |
| NCIH1573_LUNG | 67937054 | 67938471 | 67938186 | 67938186 | Missense_Mutation | T | A | p.V397E |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67937054 | 67938471 | 67938222 | 67938222 | Missense_Mutation | C | T | p.P409L |
| CL40_LARGE_INTESTINE | 67937054 | 67938471 | 67938429 | 67938429 | Missense_Mutation | G | A | p.R478Q |
| RKO_LARGE_INTESTINE | 67937054 | 67938471 | 67938429 | 67938429 | Missense_Mutation | G | A | p.R478Q |
| NCIH1581_LUNG | 67941378 | 67941588 | 67941383 | 67941383 | Missense_Mutation | C | T | p.P672S |
| NCIH2077_LUNG | 67941378 | 67941588 | 67941383 | 67941383 | Missense_Mutation | C | T | p.P672S |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67941378 | 67941588 | 67941450 | 67941450 | Missense_Mutation | T | A | p.V694E |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67943468 | 67943685 | 67943637 | 67943637 | Missense_Mutation | T | C | p.V910A |
| HCC15_LUNG | 67937054 | 67938471 | 67937075 | 67937075 | Nonsense_Mutation | G | T | p.E27* |
| NCIH630_LARGE_INTESTINE | 67941378 | 67941588 | 67941378 | 67941379 | Splice_Site | TC | AT | p.L670H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STARD8 |
| 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 STARD8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STARD8 |
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RelatedDrugs for STARD8 |
| 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 STARD8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| STARD8 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| STARD8 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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