|
||||||
|
 | |
| |
| |
| |
| 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 ARMC3 |
 Gene summary |
| Gene information | Gene symbol | ARMC3 | Gene ID | 219681 |
| Gene name | armadillo repeat containing 3 | |
| Synonyms | CT81|KU-CT-1 | |
| Cytomap | 10p12.2 | |
| Type of gene | protein-coding | |
| Description | armadillo repeat-containing protein 3beta-catenin-like proteincancer/testis antigen 81 | |
| Modification date | 20180329 | |
| UniProtAcc | Q5W041 | |
| Context | PubMed: ARMC3 [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 ARMC3 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 ARMC3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ARMC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40083 | 10 | 23220924:23220973:23235072:23235190:23244735:23244861 | 23235072:23235190 | ENSG00000165309.9 | ENST00000468003.1,ENST00000298032.5,ENST00000409049.3,ENST00000409983.3,ENST00000483596.1 |
| exon_skip_40085 | 10 | 23244735:23244861:23247998:23248067:23248327:23248503 | 23247998:23248067 | ENSG00000165309.9 | ENST00000468003.1,ENST00000298032.5,ENST00000409049.3,ENST00000464017.1,ENST00000447081.1,ENST00000409983.3,ENST00000483596.1 |
| exon_skip_40086 | 10 | 23247998:23248067:23248327:23248503:23257234:23257418 | 23248327:23248503 | ENSG00000165309.9 | ENST00000468003.1 |
| exon_skip_40088 | 10 | 23248330:23248503:23250812:23251007:23257234:23257271 | 23250812:23251007 | ENSG00000165309.9 | ENST00000298032.5,ENST00000409049.3,ENST00000409983.3 |
| exon_skip_40093 | 10 | 23250867:23251007:23257234:23257418:23270268:23270382 | 23257234:23257418 | ENSG00000165309.9 | ENST00000484642.1,ENST00000298032.5,ENST00000409049.3,ENST00000409983.3 |
| exon_skip_40094 | 10 | 23257234:23257418:23270268:23270421:23270523:23270537 | 23270268:23270421 | ENSG00000165309.9 | ENST00000484642.1,ENST00000376528.4,ENST00000298032.5,ENST00000409049.3,ENST00000409983.3 |
| exon_skip_40095 | 10 | 23295812:23295910:23297204:23297303:23297764:23297860 | 23297204:23297303 | ENSG00000165309.9 | ENST00000409983.3 |
| exon_skip_40096 | 10 | 23319559:23319725:23321789:23321952:23326198:23326495 | 23321789:23321952 | ENSG00000165309.9 | ENST00000376528.4,ENST00000298032.5,ENST00000409983.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ARMC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40083 | 10 | 23220924:23220973:23235072:23235190:23244735:23244861 | 23235072:23235190 | ENSG00000165309.9 | ENST00000298032.5,ENST00000409983.3,ENST00000409049.3,ENST00000468003.1,ENST00000483596.1 |
| exon_skip_40085 | 10 | 23244735:23244861:23247998:23248067:23248327:23248503 | 23247998:23248067 | ENSG00000165309.9 | ENST00000298032.5,ENST00000409983.3,ENST00000409049.3,ENST00000447081.1,ENST00000468003.1,ENST00000483596.1,ENST00000464017.1 |
| exon_skip_40086 | 10 | 23247998:23248067:23248327:23248503:23257234:23257418 | 23248327:23248503 | ENSG00000165309.9 | ENST00000468003.1 |
| exon_skip_40088 | 10 | 23248330:23248503:23250812:23251007:23257234:23257271 | 23250812:23251007 | ENSG00000165309.9 | ENST00000298032.5,ENST00000409983.3,ENST00000409049.3 |
| exon_skip_40093 | 10 | 23250867:23251007:23257234:23257418:23270268:23270382 | 23257234:23257418 | ENSG00000165309.9 | ENST00000298032.5,ENST00000409983.3,ENST00000409049.3,ENST00000484642.1 |
| exon_skip_40094 | 10 | 23257234:23257418:23270268:23270421:23270523:23270537 | 23270268:23270421 | ENSG00000165309.9 | ENST00000298032.5,ENST00000409983.3,ENST00000409049.3,ENST00000484642.1,ENST00000376528.4 |
| exon_skip_40095 | 10 | 23295812:23295910:23297204:23297303:23297764:23297860 | 23297204:23297303 | ENSG00000165309.9 | ENST00000409983.3 |
| exon_skip_40096 | 10 | 23319559:23319725:23321789:23321952:23326198:23326495 | 23321789:23321952 | ENSG00000165309.9 | ENST00000298032.5,ENST00000409983.3,ENST00000376528.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ARMC3 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for ARMC3 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for ARMC3 |
| - 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_40086 | 23248328 | 23248503 | 23248414 | 23248414 | Frame_Shift_Del | G | - | p.G151fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_40093 | 23257235 | 23257418 | 23257322 | 23257322 | Frame_Shift_Del | G | - | p.G275fs |
| COAD | TCGA-CM-6171-01 | exon_skip_40094 | 23270269 | 23270421 | 23270323 | 23270323 | Frame_Shift_Del | T | - | p.L324fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_40095 | 23297205 | 23297303 | 23297253 | 23297253 | Frame_Shift_Del | A | - | p.R626fs |
| LUAD | TCGA-50-5946-01 | exon_skip_40086 | 23248328 | 23248503 | 23248496 | 23248496 | Nonsense_Mutation | T | A | p.L177* |
| SKCM | TCGA-DA-A1I7-06 | exon_skip_40088 | 23250813 | 23251007 | 23250819 | 23250819 | Nonsense_Mutation | C | T | p.Q182* |
| READ | TCGA-AG-A002-01 | exon_skip_40088 | 23250813 | 23251007 | 23250825 | 23250825 | Nonsense_Mutation | C | T | p.R184X |
| BLCA | TCGA-BT-A42C-01 | exon_skip_40088 | 23250813 | 23251007 | 23250840 | 23250840 | Nonsense_Mutation | G | T | p.E189* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_40093 | 23257235 | 23257418 | 23257235 | 23257235 | Nonsense_Mutation | G | T | p.E245* |
| STAD | TCGA-BR-8078-01 | exon_skip_40093 | 23257235 | 23257418 | 23257331 | 23257331 | Nonsense_Mutation | A | T | p.K277* |
| STAD | TCGA-BR-8078-01 | exon_skip_40093 | 23257235 | 23257418 | 23257331 | 23257331 | Nonsense_Mutation | A | T | p.K277X |
| LUAD | TCGA-05-4249-01 | exon_skip_40094 | 23270269 | 23270421 | 23270392 | 23270392 | Nonsense_Mutation | C | A | p.S347* |
| PAAD | TCGA-2J-AABT-01 | exon_skip_40095 | 23297205 | 23297303 | 23297251 | 23297251 | Nonsense_Mutation | C | T | p.R626* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_40096 | 23321790 | 23321952 | 23321905 | 23321905 | Nonsense_Mutation | G | T | p.G788* |
| BLCA | TCGA-BT-A20Q-01 | exon_skip_40096 | 23321790 | 23321952 | 23321935 | 23321935 | Nonsense_Mutation | C | T | p.R798* |
| SKCM | TCGA-GF-A6C9-06 | exon_skip_40096 | 23321790 | 23321952 | 23321935 | 23321935 | Nonsense_Mutation | C | T | p.R798* |
| - 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 |
| HCC2157_BREAST | 23235073 | 23235190 | 23235096 | 23235097 | Frame_Shift_Ins | - | A | p.K25fs |
| CW2_LARGE_INTESTINE | 23257235 | 23257418 | 23257321 | 23257322 | Frame_Shift_Ins | - | G | p.G274fs |
| 2313287_STOMACH | 23321790 | 23321952 | 23321800 | 23321801 | Frame_Shift_Ins | - | A | p.E753fs |
| HEC251_ENDOMETRIUM | 23235073 | 23235190 | 23235128 | 23235128 | Missense_Mutation | A | C | p.N35T |
| LNCAPCLONEFGC_PROSTATE | 23248328 | 23248503 | 23248384 | 23248384 | Missense_Mutation | T | C | p.Y140H |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 23248328 | 23248503 | 23248459 | 23248459 | Missense_Mutation | G | C | p.D165H |
| HS274T_BREAST | 23250813 | 23251007 | 23250891 | 23250891 | Missense_Mutation | G | A | p.V206M |
| SNUC4_LARGE_INTESTINE | 23250813 | 23251007 | 23250931 | 23250931 | Missense_Mutation | C | A | p.A219E |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23257235 | 23257418 | 23257273 | 23257273 | Missense_Mutation | A | G | p.I257M |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23257235 | 23257418 | 23257367 | 23257367 | Missense_Mutation | C | G | p.P289A |
| LN464_CENTRAL_NERVOUS_SYSTEM | 23270269 | 23270421 | 23270283 | 23270283 | Missense_Mutation | C | A | p.L311I |
| MELJUSO_SKIN | 23270269 | 23270421 | 23270313 | 23270313 | Missense_Mutation | C | T | p.L321F |
| NCIH446_LUNG | 23297205 | 23297303 | 23297282 | 23297282 | Missense_Mutation | G | T | p.R636I |
| HT115_LARGE_INTESTINE | 23321790 | 23321952 | 23321803 | 23321803 | Missense_Mutation | A | C | p.K754Q |
| NCIH187_LUNG | 23321790 | 23321952 | 23321827 | 23321827 | Missense_Mutation | G | C | p.E762Q |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23321790 | 23321952 | 23321906 | 23321906 | Missense_Mutation | G | T | p.G788V |
| SNU81_LARGE_INTESTINE | 23248328 | 23248503 | 23248330 | 23248330 | Nonsense_Mutation | G | T | p.E122* |
| C3A_LIVER | 23248328 | 23248503 | 23248423 | 23248423 | Nonsense_Mutation | G | T | p.E153* |
| HEC265_ENDOMETRIUM | 23250813 | 23251007 | 23250948 | 23250948 | Nonsense_Mutation | C | T | p.R225* |
| DMS53_LUNG | 23257235 | 23257418 | 23257344 | 23257344 | Nonsense_Mutation | C | G | p.S281* |
| JHUEM7_ENDOMETRIUM | 23321790 | 23321952 | 23321803 | 23321803 | Nonsense_Mutation | A | T | p.K754* |
| SNU1040_LARGE_INTESTINE | 23270269 | 23270421 | 23270269 | 23270269 | Splice_Site | C | T | p.P306L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARMC3 |
| 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 ARMC3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARMC3 |
Top |
RelatedDrugs for ARMC3 |
| 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 ARMC3 |
| 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)
|