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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 CARNS1 |
 Gene summary |
| Gene information | Gene symbol | CARNS1 | Gene ID | 57571 |
| Gene name | carnosine synthase 1 | |
| Synonyms | ATPGD1 | |
| Cytomap | 11q13.2 | |
| Type of gene | protein-coding | |
| Description | carnosine synthase 1ATP-grasp domain containing 1ATP-grasp domain-containing protein 1 | |
| Modification date | 20200320 | |
| UniProtAcc | A5YM72, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CARNS1 | GO:0035499 | carnosine biosynthetic process | 20097752|24891507 |
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Gene structures and expression levels for CARNS1 |
| 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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ENSG00000172508
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| TC | DOWN | 6.932346e+03 | -1.010480e+00 | 7.944886e-10 | 5.356542e-08 |
| 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 |
| CB | DOWN | ENST00000531388.1 | CARNS1-206:retained_intron:CARNS1 | 5.067983e+02 | -8.076296e-01 | 1.099923e-06 | 1.627434e-05 |
| CB | DOWN | ENST00000307823.7 | CARNS1-201:protein_coding:CARNS1 | 3.232863e+02 | -8.633826e-01 | 5.011126e-04 | 2.886434e-03 |
| CB | DOWN | ENST00000445895.2 | CARNS1-202:protein_coding:CARNS1 | 1.614343e+02 | -1.464344e+00 | 3.542405e-03 | 1.479543e-02 |
| TC | DOWN | ENST00000531388.1 | CARNS1-206:retained_intron:CARNS1 | 3.303722e+03 | -1.092991e+00 | 4.455799e-10 | 6.728012e-08 |
| TC | DOWN | ENST00000307823.7 | CARNS1-201:protein_coding:CARNS1 | 2.299203e+03 | -9.548943e-01 | 1.600644e-07 | 8.968562e-06 |
| TC | DOWN | ENST00000531958.5 | CARNS1-207:retained_intron:CARNS1 | 8.791594e+01 | -1.162672e+00 | 1.717645e-07 | 9.523274e-06 |
| TC | DOWN | ENST00000445895.2 | CARNS1-202:protein_coding:CARNS1 | 9.461171e+02 | -9.122691e-01 | 2.447969e-04 | 3.277205e-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 CARNS1 |
| 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_106602 | chr11 | 67415678:67415763:67417407:67417677:67418431:67418520 | 67417407:67417677 |
| exon_skip_120224 | chr11 | 67415678:67415763:67416176:67417677:67418431:67418447 | 67416176:67417677 |
| exon_skip_136952 | chr11 | 67417407:67417677:67418431:67418520:67418756:67419198 | 67418431:67418520 |
| exon_skip_158207 | chr11 | 67415361:67415517:67416176:67416202:67417407:67417677 | 67416176:67416202 |
| exon_skip_234259 | chr11 | 67415678:67415763:67417407:67417677:67418431:67418447 | 67417407:67417677 |
| exon_skip_235504 | chr11 | 67419487:67419661:67419753:67419838:67420609:67420677 | 67419753:67419838 |
| exon_skip_258098 | chr11 | 67417536:67417677:67418431:67418520:67418756:67419198 | 67418431:67418520 |
| exon_skip_265736 | chr11 | 67415678:67415763:67416176:67416202:67417407:67417677 | 67416176:67416202 |
| exon_skip_36302 | chr11 | 67415678:67415763:67416176:67417677:67418431:67418520 | 67416176:67417677 |
| exon_skip_37720 | chr11 | 67418431:67418520:67418756:67419243:67419487:67419661 | 67418756:67419243 |
| exon_skip_40040 | chr11 | 67417536:67417677:67418431:67418520:67418756:67418818 | 67418431:67418520 |
| exon_skip_4151 | chr11 | 67417536:67417677:67418431:67418520:67418756:67418847 | 67418431:67418520 |
| exon_skip_78504 | chr11 | 67416176:67416202:67417407:67417677:67418431:67418520 | 67417407:67417677 |
| exon_skip_80364 | chr11 | 67419491:67419661:67419753:67419838:67420609:67420677 | 67419753:67419838 |
| 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_36302 | ROSMAP_DLPFC | 6.531928e-01 | 7.973864e-01 | -1.441936e-01 | 3.425946e-03 |
| exon_skip_120224 | ROSMAP_HCC | 6.613103e-01 | 7.943182e-01 | -1.330078e-01 | 4.485384e-02 |
| exon_skip_36302 | Mayo_TC | 5.190244e-01 | 7.268000e-01 | -2.077756e-01 | 2.671504e-05 |
| exon_skip_248293 | Mayo_TC | 7.896104e-01 | 9.355556e-01 | -1.459452e-01 | 1.219251e-04 |
| exon_skip_246877 | Mayo_TC | 7.966667e-01 | 9.118056e-01 | -1.151389e-01 | 6.453905e-04 |
| exon_skip_106602 | Mayo_TC | 3.912658e-01 | 5.532836e-01 | -1.620178e-01 | 6.851872e-06 |
| exon_skip_175519 | Mayo_TC | 7.153731e-01 | 8.571186e-01 | -1.417455e-01 | 2.785771e-03 |
| exon_skip_114466 | Mayo_TC | 7.178261e-01 | 8.351724e-01 | -1.173463e-01 | 3.305922e-04 |
| exon_skip_149229 | Mayo_TC | 1.068571e-01 | 2.265455e-01 | -1.196883e-01 | 7.307109e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for CARNS1 |
| 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 |
| ENST00000307823 | 67417407 | 67417677 | 5UTR-5UTR |
| ENST00000307823 | 67418431 | 67418520 | 5UTR-5UTR |
| ENST00000307823 | 67419753 | 67419838 | 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 |
| ENST00000307823 | 67417407 | 67417677 | 5UTR-5UTR |
| ENST00000307823 | 67418431 | 67418520 | 5UTR-5UTR |
| ENST00000307823 | 67419753 | 67419838 | 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 |
| ENST00000307823 | 67418756 | 67419243 | 5CDS-5UTR |
| ENST00000307823 | 67417407 | 67417677 | 5UTR-5UTR |
| ENST00000307823 | 67418431 | 67418520 | 5UTR-5UTR |
| ENST00000307823 | 67419753 | 67419838 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CARNS1 |
p-ENSG00000172508_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 CARNS1 |
| 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 CARNS1 |
| - 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 CARNS1 |
| 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 CARNS1 |
| 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 CARNS1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | RBM3 | exon_skip_36302 | 6.634144e-01 | 1.370796e-33 |
| HCC | SAMD4A | exon_skip_120224 | -4.770243e-01 | 1.213100e-14 |
| HCC | RBM3 | exon_skip_120224 | 7.745840e-01 | 7.408942e-48 |
| HCC | SRSF4 | exon_skip_120224 | -4.043782e-01 | 1.403866e-10 |
| HCC | RBM3 | exon_skip_272462 | 4.704156e-01 | 2.692472e-12 |
| IFG | ELAVL1 | exon_skip_36302 | -4.672919e-01 | 3.269072e-02 |
| IFG | ZNF638 | exon_skip_36302 | -4.646740e-01 | 3.381242e-02 |
| IFG | RBM6 | exon_skip_36302 | -5.301211e-01 | 1.343801e-02 |
| IFG | SAMD4A | exon_skip_36302 | -4.569688e-01 | 3.728991e-02 |
| IFG | RBM5 | exon_skip_36302 | -6.282916e-01 | 2.287846e-03 |
| IFG | RBM3 | exon_skip_36302 | 7.650759e-01 | 5.339959e-05 |
| IFG | TRA2A | exon_skip_36302 | -4.777634e-01 | 2.849317e-02 |
| IFG | SF1 | exon_skip_36302 | -4.705642e-01 | 3.132994e-02 |
| IFG | FUBP1 | exon_skip_36302 | -5.158902e-01 | 1.667066e-02 |
| IFG | ENOX1 | exon_skip_36302 | -5.178635e-01 | 1.618829e-02 |
| IFG | PPRC1 | exon_skip_36302 | -4.387802e-01 | 4.660719e-02 |
| IFG | EIF4G2 | exon_skip_36302 | -4.352228e-01 | 4.862297e-02 |
| IFG | PTBP1 | exon_skip_36302 | -4.906849e-01 | 2.391361e-02 |
| IFG | PABPC1 | exon_skip_36302 | -5.085235e-01 | 1.857469e-02 |
| IFG | SRSF1 | exon_skip_36302 | -4.954341e-01 | 2.238587e-02 |
| IFG | ESRP2 | exon_skip_36302 | -5.075498e-01 | 1.883891e-02 |
| IFG | RBM4B | exon_skip_36302 | -4.392923e-01 | 4.632240e-02 |
| PCC | SAMD4A | exon_skip_36302 | -5.200238e-01 | 6.962811e-13 |
| PCC | RBM3 | exon_skip_36302 | 7.883768e-01 | 1.965066e-36 |
| TC | RBM3 | exon_skip_118365 | 4.663960e-01 | 1.924276e-07 |
| TC | PCBP4 | exon_skip_118365 | 5.461593e-01 | 3.927465e-10 |
| TC | SRSF2 | exon_skip_36302 | 4.020136e-01 | 1.800409e-07 |
| TC | RBM6 | exon_skip_36302 | -4.275587e-01 | 2.337019e-08 |
| TC | SAMD4A | exon_skip_36302 | -5.091238e-01 | 9.844130e-12 |
| TC | RBM3 | exon_skip_36302 | 7.900829e-01 | 9.186023e-35 |
| TC | PTBP1 | exon_skip_36302 | -4.528017e-01 | 2.613567e-09 |
| TC | NOVA1 | exon_skip_36302 | 4.273037e-01 | 2.387163e-08 |
| TC | RBM4 | exon_skip_36302 | -5.091916e-01 | 9.771997e-12 |
| TC | RBM4B | exon_skip_36302 | -4.353673e-01 | 1.209475e-08 |
| TC | SAMD4A | exon_skip_248293 | -5.334200e-01 | 2.486489e-12 |
| TC | RBM3 | exon_skip_248293 | 6.591738e-01 | 6.281353e-20 |
| TC | PTBP1 | exon_skip_248293 | -4.376303e-01 | 2.390949e-08 |
| TC | NOVA1 | exon_skip_248293 | 4.315604e-01 | 3.907367e-08 |
| TC | RBM6 | exon_skip_246877 | -4.198721e-01 | 1.196937e-07 |
| TC | SAMD4A | exon_skip_246877 | -4.772307e-01 | 9.880019e-10 |
| TC | RBM3 | exon_skip_246877 | 7.074415e-01 | 1.298410e-23 |
| TC | NOVA1 | exon_skip_246877 | 4.067101e-01 | 3.192227e-07 |
| TC | RBM4 | exon_skip_246877 | -4.061326e-01 | 3.329432e-07 |
| TC | SAMD4A | exon_skip_106602 | -4.087641e-01 | 3.019359e-07 |
| TC | PCBP4 | exon_skip_106602 | 4.023110e-01 | 4.810698e-07 |
| TC | SAMD4A | exon_skip_175519 | -4.278536e-01 | 5.816495e-07 |
| TC | RBM6 | exon_skip_114466 | -4.194550e-01 | 9.172819e-07 |
| TC | SRSF2 | exon_skip_78504 | 4.057968e-01 | 3.411812e-07 |
| TC | SAMD4A | exon_skip_78504 | -4.263553e-01 | 7.268481e-08 |
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RelatedDrugs for CARNS1 |
| 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 CARNS1 |
| 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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