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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ARVCF |
 Gene summary |
| Gene information | Gene symbol | ARVCF | Gene ID | 421 |
| Gene name | ARVCF delta catenin family member | |
| Synonyms | - | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | armadillo repeat protein deleted in velo-cardio-facial syndromearmadillo repeat gene deleted in velocardiofacial syndrome | |
| Modification date | 20200320 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for ARVCF |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000099889
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000406522.5 | ARVCF-204:protein_coding:ARVCF | 3.814202e+01 | 1.189793e+00 | 4.009577e-03 | 3.916790e-02 |
| TC | UP | ENST00000406522.5 | ARVCF-204:protein_coding:ARVCF | 4.923336e+01 | 1.963569e+00 | 3.355795e-04 | 4.195078e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ARVCF |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_108545 | chr22 | 19978897:19979080:19979743:19980242:19981211:19981737 | 19979743:19980242 |
| exon_skip_122565 | chr22 | 19981933:19982091:19986651:19986683:19987073:19987155 | 19986651:19986683 |
| exon_skip_125297 | chr22 | 19970725:19970743:19971216:19971335:19971886:19971971 | 19971216:19971335 |
| exon_skip_132606 | chr22 | 19981991:19982091:19986651:19986683:19987073:19987093 | 19986651:19986683 |
| exon_skip_15391 | chr22 | 19973162:19973317:19973643:19973793:19974112:19974239 | 19973643:19973793 |
| exon_skip_164953 | chr22 | 19972925:19973036:19973119:19973317:19973643:19973793 | 19973119:19973317 |
| exon_skip_201744 | chr22 | 19971886:19971971:19972358:19972411:19972737:19972823 | 19972358:19972411 |
| exon_skip_215600 | chr22 | 19970392:19970743:19971216:19971335:19971886:19971971 | 19971216:19971335 |
| exon_skip_234780 | chr22 | 19973643:19973793:19974112:19974239:19975686:19975749 | 19974112:19974239 |
| exon_skip_239196 | chr22 | 19970653:19970743:19971216:19971335:19971886:19971971 | 19971216:19971335 |
| exon_skip_242659 | chr22 | 19973643:19973793:19974112:19974239:19975686:19975757 | 19974112:19974239 |
| exon_skip_250160 | chr22 | 19981991:19982091:19990585:19990812:20010455:20010508 | 19990585:19990812 |
| exon_skip_2773 | chr22 | 19973643:19973793:19974112:19974278:19975686:19975757 | 19974112:19974278 |
| exon_skip_43423 | chr22 | 19981933:19982091:19986651:19986683:19987073:19987093 | 19986651:19986683 |
| exon_skip_68373 | chr22 | 19971886:19971971:19972358:19972411:19972737:19972827 | 19972358:19972411 |
| exon_skip_72471 | chr22 | 19975686:19975757:19976706:19976723:19977415:19977586 | 19976706:19976723 |
| exon_skip_74782 | chr22 | 19969898:19970743:19971216:19971335:19971886:19971971 | 19971216:19971335 |
| exon_skip_82297 | chr22 | 19970641:19970743:19971216:19971335:19971886:19971971 | 19971216:19971335 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_72471 | Mayo_TC | 2.997561e-01 | 4.068831e-01 | -1.071270e-01 | 1.803958e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for ARVCF |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263207 | 19971216 | 19971335 | 5CDS-5UTR |
| ENST00000263207 | 19973119 | 19973317 | Frame-shift |
| ENST00000263207 | 19973643 | 19973793 | Frame-shift |
| ENST00000263207 | 19979743 | 19980242 | Frame-shift |
| ENST00000263207 | 19972358 | 19972411 | In-frame |
| ENST00000263207 | 19976706 | 19976723 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263207 | 19971216 | 19971335 | 5CDS-5UTR |
| ENST00000263207 | 19973119 | 19973317 | Frame-shift |
| ENST00000263207 | 19973643 | 19973793 | Frame-shift |
| ENST00000263207 | 19976706 | 19976723 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263207 | 19990585 | 19990812 | 3UTR-3CDS |
| ENST00000263207 | 19971216 | 19971335 | 5CDS-5UTR |
| ENST00000263207 | 19973119 | 19973317 | Frame-shift |
| ENST00000263207 | 19973643 | 19973793 | Frame-shift |
| ENST00000263207 | 19974112 | 19974239 | Frame-shift |
| ENST00000263207 | 19979743 | 19980242 | Frame-shift |
| ENST00000263207 | 19972358 | 19972411 | In-frame |
| ENST00000263207 | 19976706 | 19976723 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARVCF |
p-ENSG00000099889_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000263207 | 4058 | 962 | 19972358 | 19972411 | 2934 | 2986 | 880 | 898 |
| Loci of skipped exons in MSBB 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 Mayo 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 |
| ENST00000263207 | 4058 | 962 | 19972358 | 19972411 | 2934 | 2986 | 880 | 898 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| O00192 | 880 | 898 | 1 | 962 | Chain | ID=PRO_0000064294;Note=Armadillo repeat protein deleted in velo-cardio-facial syndrome |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| O00192 | 880 | 898 | 1 | 962 | Chain | ID=PRO_0000064294;Note=Armadillo repeat protein deleted in velo-cardio-facial syndrome |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARVCF |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ARVCF |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for ARVCF |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARVCF |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_72471 | rs7290448 | chr22:19928416 | 1.219424e-04 | 1.085908e-02 |
| HCC | exon_skip_72471 | rs7287604 | chr22:19928157 | 6.193509e-04 | 4.012174e-02 |
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Correlation with RNA binding proteins (RBPs) for ARVCF |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_125297 | -4.080331e-01 | 9.360805e-08 |
| CB | RBM45 | exon_skip_164953 | 4.597405e-01 | 1.086562e-09 |
| CB | TRA2A | exon_skip_261570 | -4.194289e-01 | 1.671216e-07 |
| CB | RBM45 | exon_skip_261570 | 5.718609e-01 | 7.074091e-14 |
| CB | RBM4 | exon_skip_261570 | -5.737246e-01 | 5.627669e-14 |
| CB | NUP42 | exon_skip_93008 | 4.513221e-01 | 2.363716e-09 |
| CB | NUP42 | exon_skip_72471 | 5.508406e-01 | 5.360061e-14 |
| CB | TARDBP | exon_skip_107831 | -4.208134e-01 | 3.332224e-08 |
| CB | NUP42 | exon_skip_107831 | 4.031837e-01 | 1.369889e-07 |
| DLPFC | RBFOX2 | exon_skip_239196 | -4.902376e-01 | 4.262884e-16 |
| DLPFC | PCBP1 | exon_skip_239196 | -4.117517e-01 | 2.319695e-11 |
| DLPFC | HNRNPA0 | exon_skip_239196 | -4.323059e-01 | 1.739118e-12 |
| DLPFC | RBM4 | exon_skip_239196 | -4.110714e-01 | 2.519860e-11 |
| HCC | RBM5 | exon_skip_72471 | -4.464360e-01 | 1.114304e-14 |
| IFG | NUP42 | exon_skip_72471 | 4.082977e-01 | 3.838121e-02 |
| TC | RBFOX2 | exon_skip_215600 | -4.859981e-01 | 7.287314e-11 |
| TC | NUP42 | exon_skip_72471 | 6.219793e-01 | 2.132190e-18 |
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RelatedDrugs for ARVCF |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ARVCF |
| 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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