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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 CNTNAP3B |
 Gene summary |
| Gene information | Gene symbol | CNTNAP3B | Gene ID | 728577 |
| Gene name | contactin associated protein like 3B | |
| Synonyms | - | |
| Cytomap | 9p11.2 | |
| Type of gene | protein-coding | |
| Description | contactin-associated protein-like 3Bcell recognition molecule Caspr3b | |
| Modification date | 20180519 | |
| UniProtAcc | Q96NU0 | |
| Context | PubMed: CNTNAP3B [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 CNTNAP3B 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 CNTNAP3B |
| 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 CNTNAP3B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496227 | 9 | 43685148:43685379:43709649:43709760:43737326:43737520 | 43709649:43709760 | ENSG00000154529.10 | ENST00000276974.6,ENST00000377561.2,ENST00000479351.1,ENST00000341990.4 |
| exon_skip_496228 | 9 | 43800863:43801011:43815784:43815988:43816636:43816821 | 43815784:43815988 | ENSG00000154529.10 | ENST00000276974.6,ENST00000377561.2,ENST00000377564.3,ENST00000479351.1,ENST00000341990.4 |
| exon_skip_496231 | 9 | 43816636:43816821:43818040:43818184:43822517:43822779 | 43818040:43818184 | ENSG00000154529.10 | ENST00000377561.2,ENST00000377564.3,ENST00000479351.1,ENST00000341990.4 |
| exon_skip_496233 | 9 | 43818040:43818184:43822517:43822779:43828077:43828221 | 43822517:43822779 | ENSG00000154529.10 | ENST00000377561.2,ENST00000377564.3,ENST00000479351.1,ENST00000341990.4 |
| exon_skip_496234 | 9 | 43828077:43828221:43844143:43844315:43849744:43849851 | 43844143:43844315 | ENSG00000154529.10 | ENST00000377561.2,ENST00000377564.3,ENST00000341990.4 |
| exon_skip_496238 | 9 | 43828077:43828221:43853496:43853616:43861002:43861206 | 43853496:43853616 | ENSG00000154529.10 | ENST00000479351.1 |
| exon_skip_496244 | 9 | 43844143:43844315:43849744:43849851:43853496:43853616 | 43849744:43849851 | ENSG00000154529.10 | ENST00000377561.2,ENST00000377564.3,ENST00000341990.4 |
| exon_skip_496247 | 9 | 43861005:43861206:43875988:43876145:43884944:43885072 | 43875988:43876145 | ENSG00000154529.10 | ENST00000377561.2,ENST00000377564.3 |
| exon_skip_496248 | 9 | 43861005:43861206:43884944:43885072:43890295:43890466 | 43884944:43885072 | ENSG00000154529.10 | ENST00000479351.1 |
| exon_skip_496249 | 9 | 43884944:43885072:43887610:43887733:43890295:43890466 | 43887610:43887733 | ENSG00000154529.10 | ENST00000489789.2 |
| exon_skip_496251 | 9 | 43907407:43907537:43908111:43908210:43908435:43908523 | 43908111:43908210 | ENSG00000154529.10 | ENST00000480466.1 |
| exon_skip_496252 | 9 | 43907406:43907537:43908435:43908523:43915359:43915590 | 43908435:43908523 | ENSG00000154529.10 | ENST00000377564.3 |
| exon_skip_496253 | 9 | 43908435:43908523:43915359:43915590:43915825:43915979 | 43915359:43915590 | ENSG00000154529.10 | ENST00000484254.1,ENST00000377564.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CNTNAP3B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496227 | 9 | 43685148:43685379:43709649:43709760:43737326:43737520 | 43709649:43709760 | ENSG00000154529.10 | ENST00000276974.6,ENST00000341990.4,ENST00000479351.1,ENST00000377561.2 |
| exon_skip_496228 | 9 | 43800863:43801011:43815784:43815988:43816636:43816821 | 43815784:43815988 | ENSG00000154529.10 | ENST00000377564.3,ENST00000276974.6,ENST00000341990.4,ENST00000479351.1,ENST00000377561.2 |
| exon_skip_496231 | 9 | 43816636:43816821:43818040:43818184:43822517:43822779 | 43818040:43818184 | ENSG00000154529.10 | ENST00000377564.3,ENST00000341990.4,ENST00000479351.1,ENST00000377561.2 |
| exon_skip_496233 | 9 | 43818040:43818184:43822517:43822779:43828077:43828221 | 43822517:43822779 | ENSG00000154529.10 | ENST00000377564.3,ENST00000341990.4,ENST00000479351.1,ENST00000377561.2 |
| exon_skip_496234 | 9 | 43828077:43828221:43844143:43844315:43849744:43849851 | 43844143:43844315 | ENSG00000154529.10 | ENST00000377564.3,ENST00000341990.4,ENST00000377561.2 |
| exon_skip_496238 | 9 | 43828077:43828221:43853496:43853616:43861002:43861206 | 43853496:43853616 | ENSG00000154529.10 | ENST00000479351.1 |
| exon_skip_496244 | 9 | 43844143:43844315:43849744:43849851:43853496:43853616 | 43849744:43849851 | ENSG00000154529.10 | ENST00000377564.3,ENST00000341990.4,ENST00000377561.2 |
| exon_skip_496247 | 9 | 43861005:43861206:43875988:43876145:43884944:43885072 | 43875988:43876145 | ENSG00000154529.10 | ENST00000377564.3,ENST00000377561.2 |
| exon_skip_496248 | 9 | 43861005:43861206:43884944:43885072:43890295:43890466 | 43884944:43885072 | ENSG00000154529.10 | ENST00000479351.1 |
| exon_skip_496249 | 9 | 43884944:43885072:43887610:43887733:43890295:43890466 | 43887610:43887733 | ENSG00000154529.10 | ENST00000489789.2 |
| exon_skip_496251 | 9 | 43907407:43907537:43908111:43908210:43908435:43908523 | 43908111:43908210 | ENSG00000154529.10 | ENST00000480466.1 |
| exon_skip_496252 | 9 | 43907406:43907537:43908435:43908523:43915359:43915590 | 43908435:43908523 | ENSG00000154529.10 | ENST00000377564.3 |
| exon_skip_496253 | 9 | 43908435:43908523:43915359:43915590:43915825:43915979 | 43915359:43915590 | ENSG00000154529.10 | ENST00000377564.3,ENST00000484254.1 |
| 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 CNTNAP3B |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CNTNAP3B |
| 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 |
| 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 CNTNAP3B |
| - 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-A3A0-01 | exon_skip_496228 | 43815785 | 43815988 | 43815911 | 43815911 | Frame_Shift_Del | T | - | p.L222fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_496228 | 43815785 | 43815988 | 43815911 | 43815911 | Frame_Shift_Del | T | - | p.L222fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_496228 | 43815785 | 43815988 | 43815913 | 43815913 | Frame_Shift_Del | C | - | p.H223fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_496228 | 43815785 | 43815988 | 43815914 | 43815914 | Frame_Shift_Del | A | - | p.H223fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_496228 | 43815785 | 43815988 | 43815973 | 43815973 | Frame_Shift_Del | T | - | p.F244fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_496228 | 43815785 | 43815988 | 43815973 | 43815973 | Frame_Shift_Del | T | - | p.F244fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_496233 | 43822518 | 43822779 | 43822638 | 43822638 | Frame_Shift_Del | T | - | p.F398fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_496233 | 43822518 | 43822779 | 43822642 | 43822642 | Frame_Shift_Del | G | - | p.R399fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_496233 | 43822518 | 43822779 | 43822669 | 43822669 | Frame_Shift_Del | T | - | p.L408fs |
| BLCA | TCGA-CF-A9FM-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| BLCA | TCGA-KQ-A41R-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-BA-6868-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-CN-A499-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-CV-5436-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-CV-7430-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-CV-7446-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-HD-8224-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-IQ-A61G-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-QK-A6II-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| HNSC | TCGA-T2-A6WX-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| KIRP | TCGA-BQ-5877-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| KIRP | TCGA-IZ-8195-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LGG | TCGA-HW-8320-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LGG | TCGA-QH-A870-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LUAD | TCGA-05-4384-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LUAD | TCGA-05-4398-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LUAD | TCGA-44-5643-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LUAD | TCGA-55-7576-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LUAD | TCGA-69-7760-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LUAD | TCGA-78-7163-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-3A-A9IZ-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-3A-A9J0-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-FB-A545-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-FB-AAPP-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-FB-AAPS-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-H6-8124-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-H6-A45N-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-HZ-8003-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-HZ-8637-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-HZ-A49H-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-IB-7891-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-LB-A9Q5-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| PAAD | TCGA-XD-AAUG-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| SARC | TCGA-KD-A5QS-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| SKCM | TCGA-D3-A8GK-06 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| SKCM | TCGA-DA-A95Z-06 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| SKCM | TCGA-EE-A29V-06 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| SKCM | TCGA-FS-A1ZD-06 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| STAD | TCGA-RD-A7BS-01 | exon_skip_496234 | 43844144 | 43844315 | 43844265 | 43844265 | Frame_Shift_Del | G | - | p.A533fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_496234 | 43844144 | 43844315 | 43844268 | 43844268 | Frame_Shift_Del | G | - | p.L534fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_496244 | 43849745 | 43849851 | 43849817 | 43849817 | Frame_Shift_Del | A | - | p.L574fs |
| LUAD | TCGA-78-7542-01 | exon_skip_496244 | 43849745 | 43849851 | 43849817 | 43849817 | Frame_Shift_Del | A | - | p.L574fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_496238 | 43853497 | 43853616 | 43853521 | 43853521 | Frame_Shift_Del | C | - | p.A594fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_496238 | 43853497 | 43853616 | 43853521 | 43853521 | Frame_Shift_Del | C | - | p.A594fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_496238 | 43853497 | 43853616 | 43853579 | 43853579 | Frame_Shift_Del | C | - | p.G613fs |
| BLCA | TCGA-E7-A541-01 | exon_skip_496238 | 43853497 | 43853616 | 43853584 | 43853584 | Frame_Shift_Del | T | - | p.L615fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_496248 | 43884945 | 43885072 | 43884971 | 43884971 | Frame_Shift_Del | A | - | p.Q755fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_496228 | 43815785 | 43815988 | 43815876 | 43815877 | Frame_Shift_Ins | - | A | p.I211fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_496228 | 43815785 | 43815988 | 43815972 | 43815973 | Frame_Shift_Ins | - | T | p.VF242fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_496244 | 43849745 | 43849851 | 43849769 | 43849770 | Frame_Shift_Ins | - | G | p.QG558fs |
| CESC | TCGA-Q1-A6DT-01 | exon_skip_496247 | 43875989 | 43876145 | 43875988 | 43875988 | Splice_Site | G | C | e14-1 |
| - 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 |
| LOVO_LARGE_INTESTINE | 43815785 | 43815988 | 43815838 | 43815838 | Frame_Shift_Del | A | - | p.K199fs |
| ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 43853497 | 43853616 | 43853528 | 43853529 | In_Frame_Ins | - | CAC | p.597_597H>HH |
| TE5_OESOPHAGUS | 43709650 | 43709760 | 43709707 | 43709707 | Missense_Mutation | C | T | p.S48L |
| MKN1_STOMACH | 43818041 | 43818184 | 43818060 | 43818060 | Missense_Mutation | T | C | p.L316P |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43818041 | 43818184 | 43818080 | 43818080 | Missense_Mutation | G | A | p.A323T |
| HCC2157_BREAST | 43818041 | 43818184 | 43818119 | 43818119 | Missense_Mutation | C | G | p.L336V |
| NCIH1930_LUNG | 43822518 | 43822779 | 43822597 | 43822597 | Missense_Mutation | C | T | p.P384L |
| RKO_LARGE_INTESTINE | 43822518 | 43822779 | 43822624 | 43822624 | Missense_Mutation | C | T | p.S393F |
| COLO783_SKIN | 43822518 | 43822779 | 43822642 | 43822642 | Missense_Mutation | G | T | p.R399L |
| KYSE30_OESOPHAGUS | 43822518 | 43822779 | 43822654 | 43822654 | Missense_Mutation | G | A | p.R403K |
| NHAHTDD_CENTRAL_NERVOUS_SYSTEM | 43844144 | 43844315 | 43844222 | 43844222 | Missense_Mutation | T | C | p.I519T |
| NCIH1435_LUNG | 43849745 | 43849851 | 43849818 | 43849818 | Missense_Mutation | G | T | p.G575C |
| IGR39_SKIN | 43849745 | 43849851 | 43849831 | 43849831 | Missense_Mutation | C | T | p.T579M |
| KLE_ENDOMETRIUM | 43853497 | 43853616 | 43853548 | 43853548 | Missense_Mutation | G | C | p.G603A |
| RERFLCAD2_LUNG | 43853497 | 43853616 | 43853548 | 43853548 | Missense_Mutation | G | T | p.G603V |
| SCLC21H_LUNG | 43853497 | 43853616 | 43853590 | 43853590 | Missense_Mutation | C | G | p.P617R |
| HS766T_PANCREAS | 43884945 | 43885072 | 43884975 | 43884975 | Missense_Mutation | G | T | p.K756N |
| NCIH1688_LUNG | 43884945 | 43885072 | 43885009 | 43885009 | Missense_Mutation | G | T | p.D768Y |
| AN3CA_ENDOMETRIUM | 43884945 | 43885072 | 43885010 | 43885010 | Missense_Mutation | A | G | p.D768G |
| HEC6_ENDOMETRIUM | 43884945 | 43885072 | 43885037 | 43885037 | Missense_Mutation | A | G | p.D777G |
| SLR23_KIDNEY | 43915360 | 43915590 | 43915527 | 43915527 | Missense_Mutation | G | A | p.A1204T |
| RMGI_OVARY | 43709650 | 43709760 | 43709740 | 43709740 | Nonsense_Mutation | C | A | p.S59* |
| COLO800_SKIN | 43822518 | 43822779 | 43822641 | 43822641 | Nonsense_Mutation | C | T | p.R399* |
| JHUEM3_ENDOMETRIUM | 43822518 | 43822779 | 43822641 | 43822641 | Nonsense_Mutation | C | T | p.R399* |
| LI7_LIVER | 43822518 | 43822779 | 43822641 | 43822641 | Nonsense_Mutation | C | T | p.R399* |
| NCIH2004RT_SOFT_TISSUE | 43822518 | 43822779 | 43822641 | 43822641 | Nonsense_Mutation | C | T | p.R399* |
| NCIH1793_LUNG | 43815785 | 43815988 | 43815988 | 43815988 | Splice_Site | G | A | p.G248S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNTNAP3B |
| 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 CNTNAP3B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNTNAP3B |
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RelatedDrugs for CNTNAP3B |
| 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 CNTNAP3B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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