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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for GIPC1 |
Gene summary |
Gene information | Gene symbol | GIPC1 | Gene ID | 10755 |
Gene name | GIPC PDZ domain containing family member 1 | |
Synonyms | C19orf3|GIPC|GLUT1CBP|Hs.6454|IIP-1|NIP|RGS19IP1|SEMCAP|SYNECTIIN|SYNECTIN|TIP-2 | |
Cytomap | 19p13.12 | |
Type of gene | protein-coding | |
Description | PDZ domain-containing protein GIPC1GAIP C-terminus-interacting proteinGLUT1 C-terminal binding proteinIGF-1 receptor interacting protein 1RGS-GAIP-interacting proteinRGS19-interacting protein 1regulator of G-protein signalling 19 interacting protein | |
Modification date | 20200313 | |
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 GIPC1 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
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 GIPC1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_119343 | chr19 | 14491656:14491743:14492857:14492912:14496037:14496052 | 14492857:14492912 |
exon_skip_141512 | chr19 | 14480593:14480778:14491656:14491743:14492857:14492912 | 14491656:14491743 |
exon_skip_142264 | chr19 | 14479412:14479524:14480305:14480485:14480593:14480638 | 14480305:14480485 |
exon_skip_146011 | chr19 | 14480593:14480778:14482689:14483006:14491656:14491743 | 14482689:14483006 |
exon_skip_163137 | chr19 | 14482865:14483006:14491656:14491743:14496037:14496052 | 14491656:14491743 |
exon_skip_163694 | chr19 | 14482689:14483006:14491656:14491743:14496037:14496132 | 14491656:14491743 |
exon_skip_172715 | chr19 | 14491662:14491743:14492857:14492912:14496037:14496052 | 14492857:14492912 |
exon_skip_205324 | chr19 | 14480706:14480778:14482689:14483006:14491656:14491743 | 14482689:14483006 |
exon_skip_226210 | chr19 | 14480706:14480778:14482689:14483006:14496037:14496132 | 14482689:14483006 |
exon_skip_227156 | chr19 | 14482857:14483006:14483489:14483579:14491656:14491743 | 14483489:14483579 |
exon_skip_234137 | chr19 | 14480687:14480778:14491656:14491743:14496037:14496132 | 14491656:14491743 |
exon_skip_239292 | chr19 | 14482856:14483006:14483489:14483579:14491656:14491743 | 14483489:14483579 |
exon_skip_251557 | chr19 | 14480687:14480778:14482689:14483006:14491656:14491743 | 14482689:14483006 |
exon_skip_257687 | chr19 | 14480593:14480778:14482689:14483006:14496037:14496052 | 14482689:14483006 |
exon_skip_277946 | chr19 | 14482857:14483006:14491656:14491743:14492857:14492912 | 14491656:14491743 |
exon_skip_285975 | chr19 | 14480706:14480778:14491656:14491743:14496037:14496132 | 14491656:14491743 |
exon_skip_28898 | chr19 | 14479412:14479524:14480305:14480485:14480593:14480660 | 14480305:14480485 |
exon_skip_295827 | chr19 | 14478256:14478567:14478684:14478765:14479412:14479524 | 14478684:14478765 |
exon_skip_40757 | chr19 | 14491705:14491743:14492857:14492912:14496037:14496052 | 14492857:14492912 |
exon_skip_74245 | chr19 | 14480687:14480778:14491656:14491743:14492857:14492912 | 14491656:14491743 |
exon_skip_76123 | chr19 | 14480593:14480778:14491656:14491743:14496037:14496052 | 14491656:14491743 |
exon_skip_76920 | chr19 | 14479412:14479524:14480305:14480485:14480593:14480778 | 14480305:14480485 |
exon_skip_88194 | chr19 | 14482857:14483006:14491656:14491743:14496037:14496052 | 14491656:14491743 |
exon_skip_89170 | chr19 | 14480593:14480778:14482689:14483006:14496037:14496132 | 14482689:14483006 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for GIPC1 |
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 |
ENST00000345425 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000393033 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000586027 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000393033 | 14491656 | 14491743 | 3UTR-3UTR |
ENST00000586027 | 14491656 | 14491743 | 3UTR-3UTR |
ENST00000393033 | 14492857 | 14492912 | 3UTR-3UTR |
ENST00000345425 | 14480305 | 14480485 | Frame-shift |
ENST00000393033 | 14480305 | 14480485 | Frame-shift |
ENST00000586027 | 14480305 | 14480485 | Frame-shift |
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 |
ENST00000393033 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000586027 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000393033 | 14492857 | 14492912 | 3UTR-3UTR |
ENST00000345425 | 14480305 | 14480485 | Frame-shift |
ENST00000393033 | 14480305 | 14480485 | Frame-shift |
ENST00000586027 | 14480305 | 14480485 | Frame-shift |
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 |
ENST00000345425 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000393033 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000586027 | 14482689 | 14483006 | 3UTR-3CDS |
ENST00000393033 | 14491656 | 14491743 | 3UTR-3UTR |
ENST00000586027 | 14491656 | 14491743 | 3UTR-3UTR |
ENST00000393033 | 14492857 | 14492912 | 3UTR-3UTR |
ENST00000345425 | 14478684 | 14478765 | Frame-shift |
ENST00000393033 | 14478684 | 14478765 | Frame-shift |
ENST00000586027 | 14478684 | 14478765 | Frame-shift |
ENST00000345425 | 14480305 | 14480485 | Frame-shift |
ENST00000393033 | 14480305 | 14480485 | Frame-shift |
ENST00000586027 | 14480305 | 14480485 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GIPC1 |
p-ENSG00000123159_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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GIPC1 |
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 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6732-5p | chr19:14491703-14491710 | 8mer-1a | chr19:14491693-14491710 | 159.00 | -27.15 |
Mayo | ENST00000393033 | 14492857 | 14492912 | hsa-miR-5008-5p | chr19:14492895-14492902 | 8mer-1a | chr19:14492887-14492908 | 160.00 | -22.96 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-3085-3p | chr19:14491730-14491737 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6762-3p | chr19:14491728-14491735 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-626 | chr19:14491724-14491731 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6504-5p | chr19:14491730-14491737 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-3064-5p | chr19:14491730-14491737 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6804-5p | chr19:14491696-14491703 | 8mer-1a | chr19:14491685-14491707 | 165.00 | -35.22 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-4638-3p | chr19:14491719-14491726 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
Mayo | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6876-3p | chr19:14491724-14491731 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
MSBB | ENST00000393033 | 14492857 | 14492912 | hsa-miR-5008-5p | chr19:14492895-14492902 | 8mer-1a | chr19:14492887-14492908 | 160.00 | -22.96 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6732-5p | chr19:14491703-14491710 | 8mer-1a | chr19:14491693-14491710 | 159.00 | -27.15 |
ROSMAP | ENST00000393033 | 14492857 | 14492912 | hsa-miR-5008-5p | chr19:14492895-14492902 | 8mer-1a | chr19:14492887-14492908 | 160.00 | -22.96 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-3085-3p | chr19:14491730-14491737 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6762-3p | chr19:14491728-14491735 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-626 | chr19:14491724-14491731 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6504-5p | chr19:14491730-14491737 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-3064-5p | chr19:14491730-14491737 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6804-5p | chr19:14491696-14491703 | 8mer-1a | chr19:14491685-14491707 | 165.00 | -35.22 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-4638-3p | chr19:14491719-14491726 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
ROSMAP | ENST00000586027 | 14491656 | 14491743 | hsa-miR-6876-3p | chr19:14491724-14491731 | 8mer-1a | chr19:14491718-14491737 | 157.00 | -23.75 |
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SNVs in the skipped exons for GIPC1 |
- 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 GIPC1 |
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 GIPC1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for GIPC1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_76920 | -4.705092e-01 | 3.896752e-10 |
CB | RBM45 | exon_skip_76920 | 7.257241e-01 | 2.754763e-27 |
CB | NUP42 | exon_skip_76920 | 5.309877e-01 | 6.022151e-13 |
CB | RBM6 | exon_skip_146011 | -4.540888e-01 | 1.835149e-09 |
CB | SAMD4A | exon_skip_146011 | -4.567829e-01 | 1.431155e-09 |
CB | PCBP4 | exon_skip_146011 | 5.369339e-01 | 2.966771e-13 |
CB | RBM45 | exon_skip_146011 | 7.550161e-01 | 1.401753e-30 |
CB | NUP42 | exon_skip_146011 | 6.272896e-01 | 9.002593e-19 |
CB | RBM4B | exon_skip_146011 | -4.033013e-01 | 1.357400e-07 |
DLPFC | RBM25 | exon_skip_205324 | 4.595770e-01 | 3.741740e-14 |
DLPFC | PCBP4 | exon_skip_205324 | 4.433138e-01 | 3.609075e-13 |
DLPFC | EWSR1 | exon_skip_205324 | 4.108127e-01 | 2.366058e-11 |
HCC | MSI1 | exon_skip_146011 | -5.833994e-01 | 2.707778e-26 |
HCC | RBM6 | exon_skip_146011 | -6.158343e-01 | 6.808604e-30 |
HCC | SRSF11 | exon_skip_146011 | -5.148753e-01 | 6.970291e-20 |
HCC | SAMD4A | exon_skip_146011 | -6.292506e-01 | 1.654258e-31 |
HCC | CNOT4 | exon_skip_146011 | -4.611801e-01 | 8.779106e-16 |
HCC | RBM5 | exon_skip_146011 | -5.564530e-01 | 1.351754e-23 |
HCC | PCBP1 | exon_skip_146011 | -4.528007e-01 | 3.317579e-15 |
HCC | RBM45 | exon_skip_146011 | -4.973716e-01 | 1.818833e-18 |
HCC | HNRNPF | exon_skip_146011 | -5.689116e-01 | 8.205040e-25 |
HCC | RBM4B | exon_skip_146011 | -6.375221e-01 | 1.524999e-32 |
PCC | RBM6 | exon_skip_251557 | -4.567484e-01 | 1.771228e-12 |
PCC | SAMD4A | exon_skip_251557 | -5.762945e-01 | 2.010619e-20 |
PCC | HNRNPF | exon_skip_251557 | -5.064859e-01 | 2.073402e-15 |
TC | RBM25 | exon_skip_146011 | 4.034163e-01 | 1.227284e-07 |
TC | RBM6 | exon_skip_146011 | -4.258687e-01 | 1.973876e-08 |
TC | SAMD4A | exon_skip_146011 | -4.304430e-01 | 1.337836e-08 |
TC | ILF2 | exon_skip_146011 | 4.140858e-01 | 5.236602e-08 |
TC | RBM45 | exon_skip_146011 | 4.019560e-01 | 1.375866e-07 |
TC | NUP42 | exon_skip_146011 | 4.662151e-01 | 5.195274e-10 |
TC | EWSR1 | exon_skip_146011 | 4.063429e-01 | 9.744619e-08 |
TC | HNRNPH2 | exon_skip_146011 | 5.214215e-01 | 1.555100e-12 |
TC | NOVA1 | exon_skip_146011 | 5.551123e-01 | 2.585857e-14 |
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RelatedDrugs for GIPC1 |
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 GIPC1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |