|
||||||
|
 | |
| |
| |
| |
| 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 ANKRD35 |
 Gene summary |
| Gene information | Gene symbol | ANKRD35 | Gene ID | 148741 |
| Gene name | ankyrin repeat domain 35 | |
| Synonyms | - | |
| Cytomap | 1q21.1 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat domain-containing protein 35 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N283 | |
| Context | PubMed: ANKRD35 [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 ANKRD35 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 ANKRD35 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ANKRD35 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9267 | 1 | 145557047:145557112:145558207:145558265:145558441:145558512 | 145558207:145558265 | ENSG00000198483.8 | ENST00000355594.4 |
| exon_skip_9268 | 1 | 145558834:145558941:145560074:145560259:145560888:145560926 | 145560074:145560259 | ENSG00000198483.8 | ENST00000355594.4,ENST00000544626.1 |
| exon_skip_9269 | 1 | 145560888:145560926:145561095:145563099:145566685:145566775 | 145561095:145563099 | ENSG00000198483.8 | ENST00000355594.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ANKRD35 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9267 | 1 | 145557047:145557112:145558207:145558265:145558441:145558512 | 145558207:145558265 | ENSG00000198483.8 | ENST00000355594.4 |
| exon_skip_9268 | 1 | 145558834:145558941:145560074:145560259:145560888:145560926 | 145560074:145560259 | ENSG00000198483.8 | ENST00000355594.4,ENST00000544626.1 |
| exon_skip_9269 | 1 | 145560888:145560926:145561095:145563099:145566685:145566775 | 145561095:145563099 | ENSG00000198483.8 | ENST00000355594.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ANKRD35 |
| 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 |
| ENST00000355594 | 145558207 | 145558265 | Frame-shift |
| ENST00000355594 | 145560074 | 145560259 | Frame-shift |
| ENST00000355594 | 145561095 | 145563099 | 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 |
| ENST00000355594 | 145558207 | 145558265 | Frame-shift |
| ENST00000355594 | 145560074 | 145560259 | Frame-shift |
| ENST00000355594 | 145561095 | 145563099 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ANKRD35 |
| 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 |
| ENST00000355594 | 3359 | 1001 | 145561095 | 145563099 | 871 | 2874 | 261 | 929 |
| 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 |
| ENST00000355594 | 3359 | 1001 | 145561095 | 145563099 | 871 | 2874 | 261 | 929 |
| 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 |
| Q8N283 | 261 | 929 | 138 | 1001 | Alternative sequence | ID=VSP_056917;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N283 | 261 | 929 | 1 | 1001 | Chain | ID=PRO_0000243910;Note=Ankyrin repeat domain-containing protein 35 |
| Q8N283 | 261 | 929 | 295 | 344 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 610 | 696 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 733 | 810 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 851 | 968 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 527 | 533 | Compositional bias | Note=Poly-Ala |
| Q8N283 | 261 | 929 | 428 | 428 | Natural variant | ID=VAR_026870;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs6670984,PMID:14702039,PMID:15489334 |
| Q8N283 | 261 | 929 | 592 | 592 | Natural variant | ID=VAR_061017;Note=R->Q;Dbxref=dbSNP:rs41315701 |
| Q8N283 | 261 | 929 | 820 | 820 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8N283 | 261 | 929 | 138 | 1001 | Alternative sequence | ID=VSP_056917;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N283 | 261 | 929 | 1 | 1001 | Chain | ID=PRO_0000243910;Note=Ankyrin repeat domain-containing protein 35 |
| Q8N283 | 261 | 929 | 295 | 344 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 610 | 696 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 733 | 810 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 851 | 968 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N283 | 261 | 929 | 527 | 533 | Compositional bias | Note=Poly-Ala |
| Q8N283 | 261 | 929 | 428 | 428 | Natural variant | ID=VAR_026870;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs6670984,PMID:14702039,PMID:15489334 |
| Q8N283 | 261 | 929 | 592 | 592 | Natural variant | ID=VAR_061017;Note=R->Q;Dbxref=dbSNP:rs41315701 |
| Q8N283 | 261 | 929 | 820 | 820 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
SNVs in the skipped exons for ANKRD35 |
| - 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-A39Y-01 | exon_skip_9269 | 145561096 | 145563099 | 145561111 | 145561111 | Frame_Shift_Del | C | - | p.P267fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_9269 | 145561096 | 145563099 | 145561594 | 145561594 | Frame_Shift_Del | C | - | p.P428fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_9269 | 145561096 | 145563099 | 145561841 | 145561841 | Frame_Shift_Del | G | - | p.R510fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_9269 | 145561096 | 145563099 | 145561841 | 145561841 | Frame_Shift_Del | G | - | p.R510fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_9269 | 145561096 | 145563099 | 145561841 | 145561841 | Frame_Shift_Del | G | - | p.R510fs |
| TGCT | TCGA-VF-A8AE-01 | exon_skip_9269 | 145561096 | 145563099 | 145561847 | 145561847 | Frame_Shift_Del | C | - | p.A512fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_9269 | 145561096 | 145563099 | 145562101 | 145562101 | Frame_Shift_Del | G | - | p.G597fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_9269 | 145561096 | 145563099 | 145562117 | 145562117 | Frame_Shift_Del | A | - | p.E602fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_9269 | 145561096 | 145563099 | 145562331 | 145562331 | Frame_Shift_Del | G | - | p.V673fs |
| STAD | TCGA-KB-A93J-01 | exon_skip_9269 | 145561096 | 145563099 | 145561465 | 145561466 | Frame_Shift_Ins | - | TAAA | p.-384fs |
| LUAD | TCGA-17-Z014-01 | exon_skip_9269 | 145561096 | 145563099 | 145561840 | 145561841 | Frame_Shift_Ins | - | G | p.G510fs |
| PAAD | TCGA-S4-A8RO-01 | exon_skip_9269 | 145561096 | 145563099 | 145562533 | 145562534 | Frame_Shift_Ins | - | G | p.G741fs |
| PAAD | TCGA-S4-A8RO-01 | exon_skip_9269 | 145561096 | 145563099 | 145562533 | 145562534 | Frame_Shift_Ins | - | G | p.R741fs |
| SKCM | TCGA-ER-A19N-06 | exon_skip_9269 | 145561096 | 145563099 | 145561324 | 145561324 | Nonsense_Mutation | C | T | p.R338* |
| BLCA | TCGA-MV-A51V-01 | exon_skip_9269 | 145561096 | 145563099 | 145561532 | 145561532 | Nonsense_Mutation | C | G | p.S407* |
| READ | TCGA-F5-6814-01 | exon_skip_9269 | 145561096 | 145563099 | 145562427 | 145562427 | Nonsense_Mutation | G | A | p.W705X |
| BLCA | TCGA-FD-A5BZ-01 | exon_skip_9269 | 145561096 | 145563099 | 145562608 | 145562608 | Nonsense_Mutation | G | T | p.E766* |
| SKCM | TCGA-BF-AAP1-01 | exon_skip_9269 | 145561096 | 145563099 | 145562851 | 145562851 | Nonsense_Mutation | C | T | p.Q847* |
| BLCA | TCGA-DK-A1AC-01 | exon_skip_9269 | 145561096 | 145563099 | 145562892 | 145562892 | Nonsense_Mutation | T | G | p.Y860* |
| - 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 |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 145561096 | 145563099 | 145561564 | 145561564 | Frame_Shift_Del | G | - | p.G418fs |
| HEC108_ENDOMETRIUM | 145561096 | 145563099 | 145562639 | 145562639 | Frame_Shift_Del | C | - | p.S776fs |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145560075 | 145560259 | 145560149 | 145560150 | Frame_Shift_Ins | - | G | p.AG212fs |
| SNU601_STOMACH | 145561096 | 145563099 | 145561474 | 145561475 | Frame_Shift_Ins | - | A | p.Q388fs |
| SNU1040_LARGE_INTESTINE | 145561096 | 145563099 | 145561840 | 145561841 | Frame_Shift_Ins | - | A | p.R510fs |
| LS180_LARGE_INTESTINE | 145561096 | 145563099 | 145563007 | 145563008 | Frame_Shift_Ins | - | G | p.R899fs |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145561172 | 145561174 | In_Frame_Del | AGA | - | p.K288del |
| HUG1N_STOMACH | 145558208 | 145558265 | 145558226 | 145558226 | Missense_Mutation | G | T | p.A115S |
| SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145560075 | 145560259 | 145560170 | 145560170 | Missense_Mutation | G | A | p.G219E |
| ES5_BONE | 145560075 | 145560259 | 145560185 | 145560185 | Missense_Mutation | A | G | p.H224R |
| HUTU80_SMALL_INTESTINE | 145560075 | 145560259 | 145560245 | 145560245 | Missense_Mutation | G | A | p.R244Q |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145561115 | 145561115 | Missense_Mutation | A | G | p.Q268R |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145561115 | 145561115 | Missense_Mutation | A | G | p.Q268R |
| HCC2998_LARGE_INTESTINE | 145561096 | 145563099 | 145561136 | 145561136 | Missense_Mutation | G | A | p.S275N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145561172 | 145561172 | Missense_Mutation | A | T | p.E287V |
| NCIH660_PROSTATE | 145561096 | 145563099 | 145561219 | 145561219 | Missense_Mutation | G | A | p.E303K |
| NCIH1373_LUNG | 145561096 | 145563099 | 145561229 | 145561229 | Missense_Mutation | G | A | p.R306Q |
| WM88_SKIN | 145561096 | 145563099 | 145561391 | 145561391 | Missense_Mutation | C | G | p.S360C |
| J82_URINARY_TRACT | 145561096 | 145563099 | 145561475 | 145561475 | Missense_Mutation | A | T | p.Q388L |
| SKMEL5_SKIN | 145561096 | 145563099 | 145561501 | 145561501 | Missense_Mutation | C | T | p.P397S |
| NCIH1339_LUNG | 145561096 | 145563099 | 145561529 | 145561529 | Missense_Mutation | A | T | p.D406V |
| HEC59_ENDOMETRIUM | 145561096 | 145563099 | 145561657 | 145561657 | Missense_Mutation | G | A | p.A449T |
| NCIH1573_LUNG | 145561096 | 145563099 | 145561757 | 145561757 | Missense_Mutation | C | T | p.P482L |
| HCC515_LUNG | 145561096 | 145563099 | 145561841 | 145561841 | Missense_Mutation | G | T | p.R510L |
| NTERA2CLD1_TESTIS | 145561096 | 145563099 | 145561859 | 145561859 | Missense_Mutation | C | G | p.P516R |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145561861 | 145561861 | Missense_Mutation | G | C | p.V517L |
| GIMEN_AUTONOMIC_GANGLIA | 145561096 | 145563099 | 145561865 | 145561865 | Missense_Mutation | T | C | p.M518T |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145561898 | 145561898 | Missense_Mutation | C | A | p.A529E |
| LS411N_LARGE_INTESTINE | 145561096 | 145563099 | 145561973 | 145561973 | Missense_Mutation | G | A | p.G554E |
| MFE319_ENDOMETRIUM | 145561096 | 145563099 | 145562032 | 145562032 | Missense_Mutation | G | A | p.A574T |
| DOV13_OVARY | 145561096 | 145563099 | 145562095 | 145562095 | Missense_Mutation | C | A | p.P595T |
| HEC1A_ENDOMETRIUM | 145561096 | 145563099 | 145562125 | 145562125 | Missense_Mutation | C | A | p.L605I |
| SNUC2A_LARGE_INTESTINE | 145561096 | 145563099 | 145562154 | 145562154 | Missense_Mutation | G | T | p.E614D |
| SNUC2B_LARGE_INTESTINE | 145561096 | 145563099 | 145562154 | 145562154 | Missense_Mutation | G | T | p.E614D |
| SAOS2_BONE | 145561096 | 145563099 | 145562181 | 145562181 | Missense_Mutation | C | A | p.S623R |
| HCC2108_LUNG | 145561096 | 145563099 | 145562189 | 145562189 | Missense_Mutation | A | G | p.N626S |
| MORCPR_LUNG | 145561096 | 145563099 | 145562189 | 145562189 | Missense_Mutation | A | G | p.N626S |
| JHUEM7_ENDOMETRIUM | 145561096 | 145563099 | 145562231 | 145562231 | Missense_Mutation | G | T | p.R640M |
| HEC6_ENDOMETRIUM | 145561096 | 145563099 | 145562263 | 145562263 | Missense_Mutation | C | T | p.R651W |
| DMS79_LUNG | 145561096 | 145563099 | 145562350 | 145562350 | Missense_Mutation | C | G | p.L680V |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145562383 | 145562383 | Missense_Mutation | C | T | p.R691W |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145562587 | 145562587 | Missense_Mutation | G | C | p.G759R |
| NCIH1836_LUNG | 145561096 | 145563099 | 145562614 | 145562614 | Missense_Mutation | G | T | p.G768C |
| SNU668_STOMACH | 145561096 | 145563099 | 145562629 | 145562629 | Missense_Mutation | G | T | p.A773S |
| SW684_SOFT_TISSUE | 145561096 | 145563099 | 145562683 | 145562683 | Missense_Mutation | G | A | p.E791K |
| AN3CA_ENDOMETRIUM | 145561096 | 145563099 | 145562945 | 145562945 | Missense_Mutation | G | A | p.R878H |
| MDST8_LARGE_INTESTINE | 145561096 | 145563099 | 145563013 | 145563013 | Missense_Mutation | C | T | p.R901C |
| SNU308_BILIARY_TRACT | 145561096 | 145563099 | 145563035 | 145563035 | Missense_Mutation | C | T | p.T908M |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145561096 | 145563099 | 145562200 | 145562200 | Nonsense_Mutation | G | T | p.E630* |
| NCIH630_LARGE_INTESTINE | 145561096 | 145563099 | 145562236 | 145562236 | Nonsense_Mutation | C | T | p.Q642* |
| SUM149PT_BREAST | 145561096 | 145563099 | 145562746 | 145562746 | Nonsense_Mutation | C | T | p.Q812* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD35 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD35 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD35 |
Top |
RelatedDrugs for ANKRD35 |
| 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 ANKRD35 |
| 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)
|