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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ATG2B |
 Gene summary |
| Gene information | Gene symbol | ATG2B | Gene ID | 55102 |
| Gene name | autophagy related 2B | |
| Synonyms | C14orf103 | |
| Cytomap | 14q32.2 | |
| Type of gene | protein-coding | |
| Description | autophagy-related protein 2 homolog BATG2 autophagy related 2 homolog B | |
| Modification date | 20180527 | |
| UniProtAcc | Q96BY7 | |
| Context | PubMed: ATG2B [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 ATG2B 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 ATG2B |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ATG2B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115652 | 14 | 96757936:96758019:96758365:96758435:96761296:96761396 | 96758365:96758435 | ENSG00000066739.7 | ENST00000261834.5,ENST00000359933.4 |
| exon_skip_115654 | 14 | 96784059:96784192:96784570:96784635:96788448:96788591 | 96784570:96784635 | ENSG00000066739.7 | ENST00000488421.1 |
| exon_skip_115655 | 14 | 96784059:96784192:96788448:96788591:96788876:96789072 | 96788448:96788591 | ENSG00000066739.7 | ENST00000359933.4 |
| exon_skip_115658 | 14 | 96798641:96798747:96798837:96798992:96800024:96800210 | 96798837:96798992 | ENSG00000066739.7 | ENST00000359933.4 |
| exon_skip_115659 | 14 | 96798837:96798992:96800024:96800210:96800741:96800838 | 96800024:96800210 | ENSG00000066739.7 | ENST00000359933.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATG2B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_115652 | 14 | 96757936:96758019:96758365:96758435:96761296:96761396 | 96758365:96758435 | ENSG00000066739.7 | ENST00000359933.4,ENST00000261834.5 |
| exon_skip_115654 | 14 | 96784059:96784192:96784570:96784635:96788448:96788591 | 96784570:96784635 | ENSG00000066739.7 | ENST00000488421.1 |
| exon_skip_115655 | 14 | 96784059:96784192:96788448:96788591:96788876:96789072 | 96788448:96788591 | ENSG00000066739.7 | ENST00000359933.4 |
| exon_skip_115658 | 14 | 96798641:96798747:96798837:96798992:96800024:96800210 | 96798837:96798992 | ENSG00000066739.7 | ENST00000359933.4 |
| exon_skip_115659 | 14 | 96798837:96798992:96800024:96800210:96800741:96800838 | 96800024:96800210 | ENSG00000066739.7 | ENST00000359933.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ATG2B |
| 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 |
| ENST00000359933 | 96758365 | 96758435 | Frame-shift |
| ENST00000359933 | 96788448 | 96788591 | Frame-shift |
| ENST00000359933 | 96798837 | 96798992 | Frame-shift |
| ENST00000359933 | 96800024 | 96800210 | In-frame |
| 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 |
| ENST00000359933 | 96758365 | 96758435 | Frame-shift |
| ENST00000359933 | 96788448 | 96788591 | Frame-shift |
| ENST00000359933 | 96798837 | 96798992 | Frame-shift |
| ENST00000359933 | 96800024 | 96800210 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATG2B |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000359933 | 11645 | 2078 | 96800024 | 96800210 | 1916 | 2101 | 340 | 402 |
| 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 |
| ENST00000359933 | 11645 | 2078 | 96800024 | 96800210 | 1916 | 2101 | 340 | 402 |
| 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 |
| Q96BY7 | 340 | 402 | 1 | 2078 | Chain | ID=PRO_0000089909;Note=Autophagy-related protein 2 homolog B |
| Q96BY7 | 340 | 402 | 379 | 379 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q80XK6 |
| 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 |
| Q96BY7 | 340 | 402 | 1 | 2078 | Chain | ID=PRO_0000089909;Note=Autophagy-related protein 2 homolog B |
| Q96BY7 | 340 | 402 | 379 | 379 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q80XK6 |
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SNVs in the skipped exons for ATG2B |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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_115658 | 96798838 | 96798992 | 96798914 | 96798914 | Frame_Shift_Del | G | - | p.P429fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_115658 | 96798838 | 96798992 | 96798914 | 96798914 | Frame_Shift_Del | G | - | p.P429fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_115658 | 96798838 | 96798992 | 96798990 | 96798990 | Nonsense_Mutation | C | A | p.E404* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_115658 | 96798838 | 96798992 | 96798990 | 96798990 | Nonsense_Mutation | C | A | p.E404X |
| SKCM | TCGA-EE-A29D-06 | exon_skip_115659 | 96800025 | 96800210 | 96800166 | 96800166 | Nonsense_Mutation | G | A | p.R356* |
| SKCM | TCGA-EE-A29D-06 | exon_skip_115659 | 96800025 | 96800210 | 96800166 | 96800166 | Nonsense_Mutation | G | A | p.R356X |
| OV | TCGA-09-2044-01 | exon_skip_115655 | 96788449 | 96788591 | 96788593 | 96788594 | Splice_Site | - | AA | p.M913_splice |
| - 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 |
| HEC265_ENDOMETRIUM | 96758366 | 96758435 | 96758398 | 96758398 | Missense_Mutation | C | T | p.D1822N |
| HCC1359_LUNG | 96758366 | 96758435 | 96758398 | 96758398 | Missense_Mutation | C | A | p.D1822Y |
| JHUEM7_ENDOMETRIUM | 96758366 | 96758435 | 96758403 | 96758403 | Missense_Mutation | C | T | p.R1820Q |
| HEC1B_ENDOMETRIUM | 96758366 | 96758435 | 96758431 | 96758431 | Missense_Mutation | A | T | p.F1811I |
| NCIH1618_LUNG | 96788449 | 96788591 | 96788562 | 96788562 | Missense_Mutation | C | A | p.M922I |
| OE33_OESOPHAGUS | 96798838 | 96798992 | 96798951 | 96798951 | Missense_Mutation | G | A | p.H417Y |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96800025 | 96800210 | 96800040 | 96800040 | Missense_Mutation | T | A | p.T398S |
| PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96800025 | 96800210 | 96800043 | 96800043 | Missense_Mutation | G | A | p.R397C |
| SNU1040_LARGE_INTESTINE | 96800025 | 96800210 | 96800081 | 96800081 | Missense_Mutation | A | G | p.V384A |
| NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96800025 | 96800210 | 96800085 | 96800085 | Missense_Mutation | C | A | p.G383C |
| PWR1E_PROSTATE | 96800025 | 96800210 | 96800118 | 96800118 | Missense_Mutation | G | A | p.R372W |
| LN18_CENTRAL_NERVOUS_SYSTEM | 96800025 | 96800210 | 96800169 | 96800169 | Missense_Mutation | T | A | p.N355Y |
| NCIH345_LUNG | 96800025 | 96800210 | 96800127 | 96800128 | Nonsense_Mutation | CC | AG | p.368_369ME>I* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATG2B |
| 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 ATG2B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATG2B |
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RelatedDrugs for ATG2B |
| 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 ATG2B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ATG2B | C0023470 | Myeloid Leukemia | 1 | CTD_human |
| ATG2B | C0027022 | Myeloproliferative disease | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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