|
||||||
|
 | |
| |
| |
| |
| 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 AHDC1 |
 Gene summary |
| Gene information | Gene symbol | AHDC1 | Gene ID | 27245 |
| Gene name | AT-hook DNA binding motif containing 1 | |
| Synonyms | MRD25 | |
| Cytomap | 1p36.11-p35.3 | |
| Type of gene | protein-coding | |
| Description | AT-hook DNA-binding motif-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5TGY3 | |
| Context | PubMed: AHDC1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for AHDC1 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. |
 |
Top |
Gene isoform structures and expression levels for AHDC1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for AHDC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_23610 | 1 | 27860813:27861427:27873771:27878700:27879402:27879440 | 27873771:27878700 | ENSG00000126705.9 | ENST00000374011.2,ENST00000247087.5 |
| exon_skip_23626 | 1 | 27878552:27878700:27879402:27879440:27879584:27879696 | 27879402:27879440 | ENSG00000126705.9 | ENST00000487743.2,ENST00000374011.2,ENST00000247087.5 |
| exon_skip_23632 | 1 | 27879584:27879801:27884815:27885041:27885216:27885394 | 27884815:27885041 | ENSG00000126705.9 | ENST00000374011.2 |
| exon_skip_23646 | 1 | 27885218:27885394:27929907:27930005:27930670:27930942 | 27929907:27930005 | ENSG00000126705.9 | ENST00000480033.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for AHDC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_23610 | 1 | 27860813:27861427:27873771:27878700:27879402:27879440 | 27873771:27878700 | ENSG00000126705.9 | ENST00000247087.5,ENST00000374011.2 |
| exon_skip_23626 | 1 | 27878552:27878700:27879402:27879440:27879584:27879696 | 27879402:27879440 | ENSG00000126705.9 | ENST00000247087.5,ENST00000374011.2,ENST00000487743.2 |
| exon_skip_23632 | 1 | 27879584:27879801:27884815:27885041:27885216:27885394 | 27884815:27885041 | ENSG00000126705.9 | ENST00000374011.2 |
| exon_skip_23646 | 1 | 27885218:27885394:27929907:27930005:27930670:27930942 | 27929907:27930005 | ENSG00000126705.9 | ENST00000480033.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for AHDC1 |
| 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 |
| ENST00000247087 | 27879402 | 27879440 | 3UTR-3UTR |
| ENST00000374011 | 27879402 | 27879440 | 3UTR-3UTR |
| ENST00000374011 | 27884815 | 27885041 | 3UTR-3UTR |
| ENST00000247087 | 27873771 | 27878700 | 3UTR-5UTR |
| ENST00000374011 | 27873771 | 27878700 | 3UTR-5UTR |
| 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 |
| ENST00000247087 | 27879402 | 27879440 | 3UTR-3UTR |
| ENST00000374011 | 27879402 | 27879440 | 3UTR-3UTR |
| ENST00000374011 | 27884815 | 27885041 | 3UTR-3UTR |
| ENST00000247087 | 27873771 | 27878700 | 3UTR-5UTR |
| ENST00000374011 | 27873771 | 27878700 | 3UTR-5UTR |
Top |
Infer the effects of exon skipping event on protein functional features for AHDC1 |
| 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 |
Top |
SNVs in the skipped exons for AHDC1 |
| - 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 |
| STAD | TCGA-CG-4305-01 | exon_skip_23610 | 27873772 | 27878700 | 27873977 | 27873977 | Frame_Shift_Del | G | - | p.V1551fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_23610 | 27873772 | 27878700 | 27874005 | 27874005 | Frame_Shift_Del | G | - | p.P1541fs |
| SKCM | TCGA-EB-A1NK-01 | exon_skip_23610 | 27873772 | 27878700 | 27874264 | 27874264 | Frame_Shift_Del | G | - | p.H1455fs |
| LIHC | TCGA-G3-AAV0-01 | exon_skip_23610 | 27873772 | 27878700 | 27874319 | 27874361 | Frame_Shift_Del | GTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCG | - | p.1423_1437del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_23610 | 27873772 | 27878700 | 27875231 | 27875231 | Frame_Shift_Del | A | - | p.D1133fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_23610 | 27873772 | 27878700 | 27875231 | 27875231 | Frame_Shift_Del | A | - | p.F1132fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_23610 | 27873772 | 27878700 | 27875492 | 27875492 | Frame_Shift_Del | G | - | p.P1045fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_23610 | 27873772 | 27878700 | 27875522 | 27875522 | Frame_Shift_Del | G | - | p.A1035fs |
| BRCA | TCGA-A1-A0SM-01 | exon_skip_23610 | 27873772 | 27878700 | 27875711 | 27875711 | Frame_Shift_Del | G | - | p.G973fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_23610 | 27873772 | 27878700 | 27876340 | 27876340 | Frame_Shift_Del | C | - | p.E763fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_23610 | 27873772 | 27878700 | 27876439 | 27876439 | Frame_Shift_Del | C | - | p.E730fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_23610 | 27873772 | 27878700 | 27876439 | 27876439 | Frame_Shift_Del | C | - | p.E730fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_23610 | 27873772 | 27878700 | 27876439 | 27876439 | Frame_Shift_Del | C | - | p.E730fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_23610 | 27873772 | 27878700 | 27876447 | 27876447 | Frame_Shift_Del | C | - | p.G727fs |
| KIRP | TCGA-G7-A4TM-01 | exon_skip_23610 | 27873772 | 27878700 | 27876672 | 27876673 | Frame_Shift_Del | GT | - | p.652_652del |
| KIRP | TCGA-G7-A4TM-01 | exon_skip_23610 | 27873772 | 27878700 | 27876672 | 27876673 | Frame_Shift_Del | GT | - | p.T652fs |
| COAD | TCGA-CM-6171-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.R587fs |
| HNSC | TCGA-CV-A6K1-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.K586fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.K586fs |
| STAD | TCGA-BR-6452-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.R587fs |
| STAD | TCGA-BR-8059-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.R587fs |
| STAD | TCGA-CG-4305-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.R587fs |
| STAD | TCGA-HF-7132-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.R587fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.K586fs |
| UCEC | TCGA-DI-A0WH-01 | exon_skip_23610 | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.K586fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_23610 | 27873772 | 27878700 | 27877218 | 27877218 | Frame_Shift_Del | C | - | p.G470fs |
| HNSC | TCGA-BB-7870-01 | exon_skip_23610 | 27873772 | 27878700 | 27878425 | 27878425 | Frame_Shift_Del | C | - | p.D68fs |
| HNSC | TCGA-CV-5436-01 | exon_skip_23610 | 27873772 | 27878700 | 27874007 | 27874008 | Frame_Shift_Ins | - | C | p.S1540fs |
| HNSC | TCGA-CV-6948-01 | exon_skip_23610 | 27873772 | 27878700 | 27875791 | 27875792 | Frame_Shift_Ins | - | G | p.A946fs |
| HNSC | TCGA-CV-6948-01 | exon_skip_23610 | 27873772 | 27878700 | 27875791 | 27875792 | Frame_Shift_Ins | - | G | p.P945fs |
| LUAD | TCGA-44-A47B-01 | exon_skip_23610 | 27873772 | 27878700 | 27876516 | 27876517 | Frame_Shift_Ins | - | C | p.G704fs |
| LUAD | TCGA-17-Z053-01 | exon_skip_23610 | 27873772 | 27878700 | 27876724 | 27876725 | Frame_Shift_Ins | - | T | p.PP634fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_23610 | 27873772 | 27878700 | 27877504 | 27877505 | Frame_Shift_Ins | - | G | p.A375fs |
| THYM | TCGA-3S-A8YW-01 | exon_skip_23610 | 27873772 | 27878700 | 27878369 | 27878370 | Frame_Shift_Ins | - | G | p.P86fs |
| THYM | TCGA-3S-A8YW-01 | exon_skip_23610 | 27873772 | 27878700 | 27878369 | 27878370 | Frame_Shift_Ins | - | G | p.R87fs |
| COAD | TCGA-F4-6856-01 | exon_skip_23610 | 27873772 | 27878700 | 27878520 | 27878521 | Frame_Shift_Ins | - | G | p.R36fs |
| TGCT | TCGA-2G-AAGM-01 | exon_skip_23610 | 27873772 | 27878700 | 27878527 | 27878528 | Frame_Shift_Ins | - | G | p.PP33fs |
| TGCT | TCGA-2G-AALZ-01 | exon_skip_23610 | 27873772 | 27878700 | 27878527 | 27878528 | Frame_Shift_Ins | - | GG | p.PP33fs |
| HNSC | TCGA-IQ-A61I-01 | exon_skip_23610 | 27873772 | 27878700 | 27874638 | 27874638 | Nonsense_Mutation | G | T | p.S1330* |
| LUAD | TCGA-35-5375-01 | exon_skip_23610 | 27873772 | 27878700 | 27874644 | 27874644 | Nonsense_Mutation | G | C | p.S1328* |
| LUAD | TCGA-93-8067-01 | exon_skip_23610 | 27873772 | 27878700 | 27875058 | 27875058 | Nonsense_Mutation | G | C | p.S1190* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_23610 | 27873772 | 27878700 | 27875270 | 27875270 | Nonsense_Mutation | C | T | p.W1119* |
| BLCA | TCGA-XF-A9SM-01 | exon_skip_23610 | 27873772 | 27878700 | 27875893 | 27875893 | Nonsense_Mutation | G | A | p.Q912* |
| HNSC | TCGA-CN-A49A-01 | exon_skip_23610 | 27873772 | 27878700 | 27876247 | 27876247 | Nonsense_Mutation | G | A | p.Q794* |
| ESCA | TCGA-L5-A4OX-01 | exon_skip_23610 | 27873772 | 27878700 | 27876274 | 27876274 | Nonsense_Mutation | C | A | p.G785* |
| ESCA | TCGA-L5-A4OX-01 | exon_skip_23610 | 27873772 | 27878700 | 27876274 | 27876274 | Nonsense_Mutation | C | A | p.G785X |
| UCEC | TCGA-AP-A059-01 | exon_skip_23610 | 27873772 | 27878700 | 27876868 | 27876868 | Nonsense_Mutation | G | A | p.R587* |
| ACC | TCGA-OR-A5K1-01 | exon_skip_23610 | 27873772 | 27878700 | 27877423 | 27877423 | Nonsense_Mutation | C | A | p.G402X |
| - 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 |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27874982 | 27874982 | Frame_Shift_Del | G | - | p.P1215fs |
| SNUC2A_LARGE_INTESTINE | 27873772 | 27878700 | 27874982 | 27874982 | Frame_Shift_Del | G | - | p.P1215fs |
| SNUC2B_LARGE_INTESTINE | 27873772 | 27878700 | 27874982 | 27874982 | Frame_Shift_Del | G | - | p.P1215fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875084 | 27875084 | Frame_Shift_Del | C | - | p.G1181fs |
| HEC6_ENDOMETRIUM | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.K586fs |
| LIM1215_LARGE_INTESTINE | 27873772 | 27878700 | 27876869 | 27876869 | Frame_Shift_Del | T | - | p.K586fs |
| IPC298_SKIN | 27873772 | 27878700 | 27878176 | 27878177 | Frame_Shift_Del | GG | - | p.R151fs |
| IGROV1_OVARY | 27873772 | 27878700 | 27878433 | 27878433 | Frame_Shift_Del | G | - | p.P65fs |
| OC316_OVARY | 27873772 | 27878700 | 27876868 | 27876869 | Frame_Shift_Ins | - | T | p.R587fs |
| DV90_LUNG | 27873772 | 27878700 | 27876868 | 27876869 | Frame_Shift_Ins | - | T | p.R587fs |
| OC314_OVARY | 27873772 | 27878700 | 27876868 | 27876869 | Frame_Shift_Ins | - | T | p.R587fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27877504 | 27877505 | Frame_Shift_Ins | - | G | p.G375fs |
| IPC298_SKIN | 27873772 | 27878700 | 27878178 | 27878179 | Frame_Shift_Ins | - | AT | p.L150fs |
| SNU407_LARGE_INTESTINE | 27873772 | 27878700 | 27873829 | 27873829 | Missense_Mutation | C | T | p.V1600I |
| SKN_ENDOMETRIUM | 27873772 | 27878700 | 27873909 | 27873909 | Missense_Mutation | G | A | p.A1573V |
| PANC1005_PANCREAS | 27873772 | 27878700 | 27873945 | 27873945 | Missense_Mutation | T | C | p.D1561G |
| NCIH716_LARGE_INTESTINE | 27873772 | 27878700 | 27873963 | 27873963 | Missense_Mutation | G | A | p.S1555L |
| J82_MATCHED_NORMAL_TISSUE | 27873772 | 27878700 | 27873976 | 27873976 | Missense_Mutation | C | A | p.V1551L |
| J82_URINARY_TRACT | 27873772 | 27878700 | 27873976 | 27873976 | Missense_Mutation | C | A | p.V1551L |
| NCIH1944_LUNG | 27873772 | 27878700 | 27874030 | 27874030 | Missense_Mutation | C | T | p.A1533T |
| NCIH146_LUNG | 27873772 | 27878700 | 27874041 | 27874041 | Missense_Mutation | C | T | p.R1529H |
| KELLY_AUTONOMIC_GANGLIA | 27873772 | 27878700 | 27874042 | 27874042 | Missense_Mutation | G | C | p.R1529G |
| LS411N_LARGE_INTESTINE | 27873772 | 27878700 | 27874119 | 27874119 | Missense_Mutation | G | T | p.P1503H |
| SNUC2A_LARGE_INTESTINE | 27873772 | 27878700 | 27874134 | 27874134 | Missense_Mutation | G | A | p.A1498V |
| SNU1040_LARGE_INTESTINE | 27873772 | 27878700 | 27874137 | 27874137 | Missense_Mutation | G | A | p.A1497V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27874143 | 27874143 | Missense_Mutation | G | A | p.T1495M |
| TUHR14TKB_KIDNEY | 27873772 | 27878700 | 27874191 | 27874191 | Missense_Mutation | T | C | p.Y1479C |
| KYSE410_OESOPHAGUS | 27873772 | 27878700 | 27874251 | 27874251 | Missense_Mutation | G | C | p.P1459R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27874317 | 27874317 | Missense_Mutation | G | A | p.A1437V |
| 22RV1_PROSTATE | 27873772 | 27878700 | 27874335 | 27874335 | Missense_Mutation | C | T | p.G1431E |
| RL952_ENDOMETRIUM | 27873772 | 27878700 | 27874384 | 27874384 | Missense_Mutation | G | A | p.P1415S |
| LN464_CENTRAL_NERVOUS_SYSTEM | 27873772 | 27878700 | 27874450 | 27874450 | Missense_Mutation | C | T | p.G1393S |
| ACN_AUTONOMIC_GANGLIA | 27873772 | 27878700 | 27874450 | 27874450 | Missense_Mutation | C | T | p.G1393S |
| STS0421_SOFT_TISSUE | 27873772 | 27878700 | 27874536 | 27874536 | Missense_Mutation | T | C | p.H1364R |
| HT55_LARGE_INTESTINE | 27873772 | 27878700 | 27874573 | 27874573 | Missense_Mutation | A | G | p.S1352P |
| UBLC1_URINARY_TRACT | 27873772 | 27878700 | 27874644 | 27874644 | Missense_Mutation | G | A | p.S1328L |
| AN3CA_ENDOMETRIUM | 27873772 | 27878700 | 27874657 | 27874657 | Missense_Mutation | A | G | p.S1324P |
| HDQP1_BREAST | 27873772 | 27878700 | 27874659 | 27874659 | Missense_Mutation | A | G | p.M1323T |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27874662 | 27874662 | Missense_Mutation | C | A | p.S1322I |
| 22RV1_PROSTATE | 27873772 | 27878700 | 27874690 | 27874690 | Missense_Mutation | C | T | p.G1313S |
| EW22_BONE | 27873772 | 27878700 | 27874732 | 27874732 | Missense_Mutation | G | A | p.P1299S |
| LS180_LARGE_INTESTINE | 27873772 | 27878700 | 27874771 | 27874771 | Missense_Mutation | G | A | p.R1286W |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27874800 | 27874800 | Missense_Mutation | C | T | p.G1276D |
| JHUEM1_ENDOMETRIUM | 27873772 | 27878700 | 27874810 | 27874810 | Missense_Mutation | C | A | p.G1273C |
| EN_ENDOMETRIUM | 27873772 | 27878700 | 27874887 | 27874887 | Missense_Mutation | A | G | p.L1247P |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27874891 | 27874891 | Missense_Mutation | G | A | p.H1246Y |
| RL952_ENDOMETRIUM | 27873772 | 27878700 | 27874903 | 27874903 | Missense_Mutation | A | G | p.F1242L |
| EMCBAC1_LUNG | 27873772 | 27878700 | 27874909 | 27874909 | Missense_Mutation | C | A | p.D1240Y |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27874909 | 27874909 | Missense_Mutation | C | T | p.D1240N |
| RKO_LARGE_INTESTINE | 27873772 | 27878700 | 27874981 | 27874981 | Missense_Mutation | C | A | p.G1216C |
| CALU3_LUNG | 27873772 | 27878700 | 27875049 | 27875049 | Missense_Mutation | T | C | p.E1193G |
| CAL12T_LUNG | 27873772 | 27878700 | 27875080 | 27875080 | Missense_Mutation | G | A | p.R1183W |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875091 | 27875091 | Missense_Mutation | C | A | p.G1179V |
| MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875113 | 27875113 | Missense_Mutation | G | T | p.Q1172K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875122 | 27875122 | Missense_Mutation | C | T | p.D1169N |
| SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875148 | 27875148 | Missense_Mutation | G | A | p.S1160L |
| C33A_CERVIX | 27873772 | 27878700 | 27875157 | 27875157 | Missense_Mutation | G | A | p.T1157M |
| GP2D_LARGE_INTESTINE | 27873772 | 27878700 | 27875157 | 27875157 | Missense_Mutation | G | A | p.T1157M |
| GP5D_LARGE_INTESTINE | 27873772 | 27878700 | 27875157 | 27875157 | Missense_Mutation | G | A | p.T1157M |
| TE10_OESOPHAGUS | 27873772 | 27878700 | 27875214 | 27875214 | Missense_Mutation | T | C | p.E1138G |
| HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875221 | 27875221 | Missense_Mutation | C | T | p.V1136I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875235 | 27875235 | Missense_Mutation | C | T | p.S1131N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 27873772 | 27878700 | 27875235 | 27875235 | Missense_Mutation | C | T | p.S1131N |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875454 | 27875454 | Missense_Mutation | C | T | p.S1058N |
| LS411N_LARGE_INTESTINE | 27873772 | 27878700 | 27875479 | 27875479 | Missense_Mutation | C | T | p.A1050T |
| UACC62_SKIN | 27873772 | 27878700 | 27875516 | 27875516 | Missense_Mutation | G | T | p.F1037L |
| HUPT4_PANCREAS | 27873772 | 27878700 | 27875553 | 27875553 | Missense_Mutation | G | C | p.T1025S |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 27873772 | 27878700 | 27875553 | 27875553 | Missense_Mutation | G | C | p.T1025S |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875650 | 27875650 | Missense_Mutation | C | T | p.A993T |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875671 | 27875671 | Missense_Mutation | G | A | p.P986S |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875716 | 27875716 | Missense_Mutation | A | G | p.Y971H |
| UBLC1_URINARY_TRACT | 27873772 | 27878700 | 27875772 | 27875772 | Missense_Mutation | G | A | p.S952L |
| HCT15_LARGE_INTESTINE | 27873772 | 27878700 | 27875779 | 27875779 | Missense_Mutation | G | A | p.P950S |
| MFE319_ENDOMETRIUM | 27873772 | 27878700 | 27875808 | 27875808 | Missense_Mutation | G | A | p.A940V |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27875917 | 27875917 | Missense_Mutation | C | T | p.G904R |
| C33A_CERVIX | 27873772 | 27878700 | 27876046 | 27876046 | Missense_Mutation | G | A | p.R861C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27876090 | 27876090 | Missense_Mutation | G | A | p.S846L |
| UW228_CENTRAL_NERVOUS_SYSTEM | 27873772 | 27878700 | 27876223 | 27876223 | Missense_Mutation | C | A | p.A802S |
| HEC108_ENDOMETRIUM | 27873772 | 27878700 | 27876236 | 27876236 | Missense_Mutation | C | A | p.E797D |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27876244 | 27876244 | Missense_Mutation | C | T | p.G795R |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27876321 | 27876321 | Missense_Mutation | G | A | p.A769V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 27873772 | 27878700 | 27876321 | 27876321 | Missense_Mutation | G | A | p.A769V |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27876393 | 27876393 | Missense_Mutation | C | T | p.R745Q |
| CAR1_LARGE_INTESTINE | 27873772 | 27878700 | 27876477 | 27876477 | Missense_Mutation | A | G | p.L717P |
| RKO_LARGE_INTESTINE | 27873772 | 27878700 | 27876535 | 27876535 | Missense_Mutation | T | C | p.I698V |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27876579 | 27876579 | Missense_Mutation | G | C | p.A683G |
| SBC5_LUNG | 27873772 | 27878700 | 27876579 | 27876579 | Missense_Mutation | G | A | p.A683V |
| NCIH1048_LUNG | 27873772 | 27878700 | 27876592 | 27876592 | Missense_Mutation | C | T | p.G679S |
| NCIH250_LUNG | 27873772 | 27878700 | 27876595 | 27876595 | Missense_Mutation | G | A | p.R678W |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27876732 | 27876732 | Missense_Mutation | C | T | p.C632Y |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27876814 | 27876814 | Missense_Mutation | C | T | p.A605T |
| EN_ENDOMETRIUM | 27873772 | 27878700 | 27876948 | 27876948 | Missense_Mutation | T | G | p.K560T |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 27873772 | 27878700 | 27877014 | 27877014 | Missense_Mutation | T | A | p.E538V |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 27873772 | 27878700 | 27877014 | 27877015 | Missense_Mutation | TC | AA | p.E538L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27877045 | 27877045 | Missense_Mutation | G | A | p.R528W |
| SNUC4_LARGE_INTESTINE | 27873772 | 27878700 | 27877084 | 27877084 | Missense_Mutation | C | T | p.A515T |
| SNU1_STOMACH | 27873772 | 27878700 | 27877093 | 27877093 | Missense_Mutation | G | A | p.R512C |
| SNGM_ENDOMETRIUM | 27873772 | 27878700 | 27877093 | 27877093 | Missense_Mutation | G | A | p.R512C |
| CHLA15_AUTONOMIC_GANGLIA | 27873772 | 27878700 | 27877176 | 27877176 | Missense_Mutation | G | A | p.S484L |
| SNU1_STOMACH | 27873772 | 27878700 | 27877176 | 27877176 | Missense_Mutation | G | A | p.S484L |
| 451LU_SKIN | 27873772 | 27878700 | 27877212 | 27877212 | Missense_Mutation | C | A | p.R472L |
| KMH2_THYROID | 27873772 | 27878700 | 27877311 | 27877311 | Missense_Mutation | G | A | p.A439V |
| SNU520_STOMACH | 27873772 | 27878700 | 27877345 | 27877345 | Missense_Mutation | C | T | p.E428K |
| SNUC4_LARGE_INTESTINE | 27873772 | 27878700 | 27877347 | 27877347 | Missense_Mutation | G | A | p.A427V |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27877404 | 27877404 | Missense_Mutation | C | T | p.G408E |
| MCC13_SKIN | 27873772 | 27878700 | 27877431 | 27877431 | Missense_Mutation | G | A | p.A399V |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27877467 | 27877467 | Missense_Mutation | G | A | p.T387I |
| PLCPRF5_LIVER | 27873772 | 27878700 | 27877557 | 27877557 | Missense_Mutation | C | A | p.C357F |
| MDAPCA2B_PROSTATE | 27873772 | 27878700 | 27877597 | 27877597 | Missense_Mutation | G | A | p.P344S |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27877600 | 27877600 | Missense_Mutation | C | T | p.V343I |
| HCT15_LARGE_INTESTINE | 27873772 | 27878700 | 27877600 | 27877600 | Missense_Mutation | C | T | p.V343I |
| CJM_SKIN | 27873772 | 27878700 | 27877639 | 27877639 | Missense_Mutation | C | T | p.D330N |
| SF295_CENTRAL_NERVOUS_SYSTEM | 27873772 | 27878700 | 27877738 | 27877738 | Missense_Mutation | G | T | p.L297M |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27877753 | 27877753 | Missense_Mutation | C | A | p.G292W |
| LN229_CENTRAL_NERVOUS_SYSTEM | 27873772 | 27878700 | 27877830 | 27877830 | Missense_Mutation | G | A | p.P266L |
| FADU_UPPER_AERODIGESTIVE_TRACT | 27873772 | 27878700 | 27877839 | 27877839 | Missense_Mutation | G | A | p.A263V |
| COLO792_SKIN | 27873772 | 27878700 | 27877846 | 27877847 | Missense_Mutation | CC | TT | p.A261T |
| COLO792_SKIN | 27873772 | 27878700 | 27877846 | 27877846 | Missense_Mutation | C | T | p.A261T |
| PK45H_PANCREAS | 27873772 | 27878700 | 27877860 | 27877860 | Missense_Mutation | G | A | p.A256V |
| RH30_SOFT_TISSUE | 27873772 | 27878700 | 27877939 | 27877939 | Missense_Mutation | C | G | p.E230Q |
| HCC2279_LUNG | 27873772 | 27878700 | 27877956 | 27877956 | Missense_Mutation | C | A | p.G224V |
| SKUT1_SOFT_TISSUE | 27873772 | 27878700 | 27877971 | 27877971 | Missense_Mutation | G | A | p.T219M |
| HEC108_ENDOMETRIUM | 27873772 | 27878700 | 27878022 | 27878022 | Missense_Mutation | G | A | p.P202L |
| MDAMB415_BREAST | 27873772 | 27878700 | 27878026 | 27878026 | Missense_Mutation | C | G | p.E201Q |
| HCC1428_BREAST | 27873772 | 27878700 | 27878026 | 27878026 | Missense_Mutation | C | G | p.E201Q |
| TC138_BONE | 27873772 | 27878700 | 27878053 | 27878053 | Missense_Mutation | G | A | p.R192W |
| EFO27_OVARY | 27873772 | 27878700 | 27878074 | 27878074 | Missense_Mutation | T | A | p.T185S |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 27873772 | 27878700 | 27878358 | 27878358 | Missense_Mutation | C | T | p.R90H |
| HUH28_BILIARY_TRACT | 27873772 | 27878700 | 27878359 | 27878359 | Missense_Mutation | G | C | p.R90G |
| HEC108_ENDOMETRIUM | 27873772 | 27878700 | 27878362 | 27878362 | Missense_Mutation | C | T | p.A89T |
| MMACSF_SKIN | 27873772 | 27878700 | 27878398 | 27878398 | Missense_Mutation | G | A | p.L77F |
| HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27878412 | 27878412 | Missense_Mutation | C | T | p.R72Q |
| PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27873772 | 27878700 | 27878412 | 27878412 | Missense_Mutation | C | T | p.R72Q |
| PLCPRF5_LIVER | 27873772 | 27878700 | 27878442 | 27878442 | Missense_Mutation | C | G | p.R62P |
| CP66MEL_SKIN | 27873772 | 27878700 | 27878461 | 27878461 | Missense_Mutation | C | T | p.A56T |
| LNCAPCLONEFGC_PROSTATE | 27873772 | 27878700 | 27875953 | 27875953 | Nonsense_Mutation | C | A | p.G892* |
| SW684_SOFT_TISSUE | 27873772 | 27878700 | 27876262 | 27876262 | Nonsense_Mutation | G | A | p.R789* |
| SNU324_PANCREAS | 27873772 | 27878700 | 27876713 | 27876713 | Nonsense_Mutation | C | T | p.W638* |
| JMSU1_URINARY_TRACT | 27873772 | 27878700 | 27876796 | 27876796 | Nonsense_Mutation | C | A | p.E611* |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 27873772 | 27878700 | 27877015 | 27877015 | Nonsense_Mutation | C | A | p.E538* |
| IPC298_SKIN | 27873772 | 27878700 | 27878176 | 27878178 | Nonsense_Mutation | GGA | AAT | p.150_151LR>H* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AHDC1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AHDC1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AHDC1 |
Top |
RelatedDrugs for AHDC1 |
| 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 |
Top |
RelatedDiseases for AHDC1 |
| 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)
|