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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 AMMECR1 |
Gene summary |
Gene information | Gene symbol | AMMECR1 | Gene ID | 9949 |
Gene name | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | |
Synonyms | AMMERC1|MFHIEN | |
Cytomap | Xq23 | |
Type of gene | protein-coding | |
Description | AMME syndrome candidate gene 1 proteinAlport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1 | |
Modification date | 20180519 | |
UniProtAcc | Q9Y4X0 | |
Context | PubMed: AMMECR1 [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 |
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Exon skipping events across known transcript of Ensembl for AMMECR1 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. |
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Gene isoform structures and expression levels for AMMECR1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for AMMECR1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_516410 | X | 109444181:109444278:109445673:109445764:109459745:109459860 | 109445673:109445764 | ENSG00000101935.5 | ENST00000372059.2,ENST00000262844.5,ENST00000372057.1 |
exon_skip_516413 | X | 109445673:109445764:109459745:109459860:109507716:109507827 | 109459745:109459860 | ENSG00000101935.5 | ENST00000262844.5,ENST00000372057.1 |
exon_skip_516415 | X | 109459745:109459860:109507716:109507827:109560826:109560984 | 109507716:109507827 | ENSG00000101935.5 | ENST00000372057.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AMMECR1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_516410 | X | 109444181:109444278:109445673:109445764:109459745:109459860 | 109445673:109445764 | ENSG00000101935.5 | ENST00000262844.5,ENST00000372059.2,ENST00000372057.1 |
exon_skip_516413 | X | 109445673:109445764:109459745:109459860:109507716:109507827 | 109459745:109459860 | ENSG00000101935.5 | ENST00000262844.5,ENST00000372057.1 |
exon_skip_516415 | X | 109459745:109459860:109507716:109507827:109560826:109560984 | 109507716:109507827 | ENSG00000101935.5 | ENST00000372057.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for AMMECR1 |
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 |
ENST00000262844 | 109445673 | 109445764 | Frame-shift |
ENST00000262844 | 109459745 | 109459860 | Frame-shift |
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 |
ENST00000262844 | 109445673 | 109445764 | Frame-shift |
ENST00000262844 | 109459745 | 109459860 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for AMMECR1 |
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 |
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SNVs in the skipped exons for AMMECR1 |
- 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 |
BRCA | TCGA-AO-A0J8-01 | exon_skip_516415 | 109507717 | 109507827 | 109507722 | 109507738 | Frame_Shift_Del | AAGTGTGTACTCCCTGA | - | p.L188fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_516415 | 109507717 | 109507827 | 109507733 | 109507733 | Frame_Shift_Del | C | - | p.E190fs |
STAD | TCGA-BR-8368-01 | exon_skip_516415 | 109507717 | 109507827 | 109507781 | 109507781 | Nonsense_Mutation | C | A | p.G174* |
STAD | TCGA-BR-8368-01 | exon_skip_516415 | 109507717 | 109507827 | 109507781 | 109507781 | Nonsense_Mutation | C | A | p.G174X |
- 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 |
SW1353_BONE | 109459746 | 109459860 | 109459757 | 109459757 | Missense_Mutation | A | T | p.L230M |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109459746 | 109459860 | 109459810 | 109459810 | Missense_Mutation | C | T | p.R212Q |
OVK18_OVARY | 109507717 | 109507827 | 109507811 | 109507811 | Missense_Mutation | A | G | p.W164R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AMMECR1 |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AMMECR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AMMECR1 |
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RelatedDrugs for AMMECR1 |
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 |
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RelatedDiseases for AMMECR1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |