|
||||||
|
 | |
| |
| |
| |
| 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 ZFAND4 |
 Gene summary |
| Gene information | Gene symbol | ZFAND4 | Gene ID | 93550 |
| Gene name | zinc finger AN1-type containing 4 | |
| Synonyms | ANUBL1 | |
| Cytomap | 10q11.22 | |
| Type of gene | protein-coding | |
| Description | AN1-type zinc finger protein 4AN1, ubiquitin-like, homologAN1-type zinc finger and ubiquitin domain-containing protein 1AN1-type zinc finger and ubiquitin domain-containing protein-like 1zinc finger, AN1-type domain 4 | |
| Modification date | 20180522 | |
| UniProtAcc | Q86XD8 | |
| Context | PubMed: ZFAND4 [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 ZFAND4 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 ZFAND4 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ZFAND4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48939 | 10 | 46113587:46113708:46120030:46120085:46121398:46122553 | 46120030:46120085 | ENSG00000172671.15 | ENST00000374366.3,ENST00000374370.1,ENST00000344646.5 |
| exon_skip_48949 | 10 | 46120030:46120085:46121398:46122553:46135263:46135411 | 46121398:46122553 | ENSG00000172671.15 | ENST00000374366.3,ENST00000374370.1,ENST00000344646.5 |
| exon_skip_48952 | 10 | 46121398:46122553:46135263:46135411:46143741:46143982 | 46135263:46135411 | ENSG00000172671.15 | ENST00000374366.3,ENST00000374370.1,ENST00000344646.5 |
| exon_skip_48954 | 10 | 46135263:46135411:46135688:46135869:46143741:46143982 | 46135688:46135869 | ENSG00000172671.15 | ENST00000465407.1 |
| exon_skip_48959 | 10 | 46143922:46143982:46147413:46147481:46148431:46148507 | 46147413:46147481 | ENSG00000172671.15 | ENST00000374366.3,ENST00000374371.2,ENST00000344646.5,ENST00000495747.1,ENST00000465407.1 |
| exon_skip_48960 | 10 | 46143922:46143982:46147413:46147481:46158989:46159290 | 46147413:46147481 | ENSG00000172671.15 | ENST00000497028.1 |
| exon_skip_48968 | 10 | 46147413:46147481:46148431:46148507:46158989:46159290 | 46148431:46148507 | ENSG00000172671.15 | ENST00000374371.2,ENST00000344646.5,ENST00000335258.7,ENST00000465407.1 |
| exon_skip_48972 | 10 | 46147413:46147481:46158989:46159290:46167719:46168210 | 46158989:46159290 | ENSG00000172671.15 | ENST00000497028.1 |
| exon_skip_48973 | 10 | 46148431:46148507:46158027:46158129:46158989:46159290 | 46158027:46158129 | ENSG00000172671.15 | ENST00000374366.3,ENST00000495747.1 |
| exon_skip_48974 | 10 | 46148431:46148507:46158989:46159290:46167697:46167722 | 46158989:46159290 | ENSG00000172671.15 | ENST00000374371.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ZFAND4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48939 | 10 | 46113587:46113708:46120030:46120085:46121398:46122553 | 46120030:46120085 | ENSG00000172671.15 | ENST00000344646.5,ENST00000374366.3,ENST00000374370.1 |
| exon_skip_48949 | 10 | 46120030:46120085:46121398:46122553:46135263:46135411 | 46121398:46122553 | ENSG00000172671.15 | ENST00000344646.5,ENST00000374366.3,ENST00000374370.1 |
| exon_skip_48952 | 10 | 46121398:46122553:46135263:46135411:46143741:46143982 | 46135263:46135411 | ENSG00000172671.15 | ENST00000344646.5,ENST00000374366.3,ENST00000374370.1 |
| exon_skip_48954 | 10 | 46135263:46135411:46135688:46135869:46143741:46143982 | 46135688:46135869 | ENSG00000172671.15 | ENST00000465407.1 |
| exon_skip_48959 | 10 | 46143922:46143982:46147413:46147481:46148431:46148507 | 46147413:46147481 | ENSG00000172671.15 | ENST00000344646.5,ENST00000374371.2,ENST00000374366.3,ENST00000465407.1,ENST00000495747.1 |
| exon_skip_48960 | 10 | 46143922:46143982:46147413:46147481:46158989:46159290 | 46147413:46147481 | ENSG00000172671.15 | ENST00000497028.1 |
| exon_skip_48968 | 10 | 46147413:46147481:46148431:46148507:46158989:46159290 | 46148431:46148507 | ENSG00000172671.15 | ENST00000344646.5,ENST00000374371.2,ENST00000465407.1,ENST00000335258.7 |
| exon_skip_48972 | 10 | 46147413:46147481:46158989:46159290:46167719:46168210 | 46158989:46159290 | ENSG00000172671.15 | ENST00000497028.1 |
| exon_skip_48973 | 10 | 46148431:46148507:46158027:46158129:46158989:46159290 | 46158027:46158129 | ENSG00000172671.15 | ENST00000374366.3,ENST00000495747.1 |
| exon_skip_48974 | 10 | 46148431:46148507:46158989:46159290:46167697:46167722 | 46158989:46159290 | ENSG00000172671.15 | ENST00000374371.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ZFAND4 |
| 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 |
| ENST00000344646 | 46120030 | 46120085 | Frame-shift |
| ENST00000344646 | 46135263 | 46135411 | Frame-shift |
| ENST00000344646 | 46147413 | 46147481 | Frame-shift |
| ENST00000344646 | 46148431 | 46148507 | Frame-shift |
| ENST00000344646 | 46121398 | 46122553 | 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 |
| ENST00000344646 | 46120030 | 46120085 | Frame-shift |
| ENST00000344646 | 46135263 | 46135411 | Frame-shift |
| ENST00000344646 | 46147413 | 46147481 | Frame-shift |
| ENST00000344646 | 46148431 | 46148507 | Frame-shift |
| ENST00000344646 | 46121398 | 46122553 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ZFAND4 |
| 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 |
| ENST00000344646 | 3258 | 727 | 46121398 | 46122553 | 934 | 2088 | 239 | 624 |
| 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 |
| ENST00000344646 | 3258 | 727 | 46121398 | 46122553 | 934 | 2088 | 239 | 624 |
| 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 |
| Q86XD8 | 239 | 624 | 1 | 727 | Chain | ID=PRO_0000269892;Note=AN1-type zinc finger protein 4 |
| Q86XD8 | 239 | 624 | 358 | 358 | Natural variant | ID=VAR_053774;Note=H->Y;Dbxref=dbSNP:rs12267385 |
| Q86XD8 | 239 | 624 | 523 | 523 | Natural variant | ID=VAR_062163;Note=T->A;Dbxref=dbSNP:rs34082391 |
| 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 |
| Q86XD8 | 239 | 624 | 1 | 727 | Chain | ID=PRO_0000269892;Note=AN1-type zinc finger protein 4 |
| Q86XD8 | 239 | 624 | 358 | 358 | Natural variant | ID=VAR_053774;Note=H->Y;Dbxref=dbSNP:rs12267385 |
| Q86XD8 | 239 | 624 | 523 | 523 | Natural variant | ID=VAR_062163;Note=T->A;Dbxref=dbSNP:rs34082391 |
Top |
SNVs in the skipped exons for ZFAND4 |
| - 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 |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_48949 | 46121399 | 46122553 | 46121400 | 46121400 | Frame_Shift_Del | A | - | p.L624fs |
| STAD | TCGA-BR-4368-01 | exon_skip_48949 | 46121399 | 46122553 | 46121425 | 46121425 | Frame_Shift_Del | G | - | p.Q616fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_48949 | 46121399 | 46122553 | 46122159 | 46122159 | Frame_Shift_Del | A | - | p.L297fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_48949 | 46121399 | 46122553 | 46122159 | 46122159 | Frame_Shift_Del | A | - | p.L371fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_48974 exon_skip_48972 | 46158990 | 46159290 | 46159020 | 46159020 | Frame_Shift_Del | A | - | p.S52fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_48974 exon_skip_48972 | 46158990 | 46159290 | 46159041 | 46159041 | Frame_Shift_Del | A | - | p.S45fs |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_48949 | 46121399 | 46122553 | 46121779 | 46121779 | Nonsense_Mutation | C | A | p.E498* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_48949 | 46121399 | 46122553 | 46122112 | 46122112 | Nonsense_Mutation | C | A | p.E313* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_48949 | 46121399 | 46122553 | 46122112 | 46122112 | Nonsense_Mutation | C | A | p.E387X |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_48952 | 46135264 | 46135411 | 46135371 | 46135371 | Nonsense_Mutation | C | A | p.E130* |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_48952 | 46135264 | 46135411 | 46135391 | 46135391 | Nonsense_Mutation | G | C | p.S123* |
| SKCM | TCGA-FS-A1ZZ-06 | exon_skip_48974 exon_skip_48972 | 46158990 | 46159290 | 46159002 | 46159002 | Nonsense_Mutation | G | A | p.R58* |
| LUSC | TCGA-22-4599-01 | exon_skip_48960 exon_skip_48959 | 46147414 | 46147481 | 46147483 | 46147483 | Splice_Site | T | C | p.N87_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 |
| SNU520_STOMACH | 46121399 | 46122553 | 46121441 | 46121442 | Frame_Shift_Del | AA | - | p.F610fs |
| HCC366_LUNG | 46135264 | 46135411 | 46135400 | 46135401 | Frame_Shift_Del | AT | - | p.M194fs |
| A498_KIDNEY | 46120031 | 46120085 | 46120051 | 46120051 | Missense_Mutation | G | C | p.A636G |
| CW2_LARGE_INTESTINE | 46120031 | 46120085 | 46120073 | 46120073 | Missense_Mutation | C | T | p.V629I |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46121399 | 46122553 | 46121462 | 46121462 | Missense_Mutation | C | G | p.Q603H |
| CCK81_LARGE_INTESTINE | 46121399 | 46122553 | 46121515 | 46121515 | Missense_Mutation | G | A | p.R586C |
| NCIH187_LUNG | 46121399 | 46122553 | 46121589 | 46121589 | Missense_Mutation | A | G | p.V561A |
| EN_ENDOMETRIUM | 46121399 | 46122553 | 46121700 | 46121700 | Missense_Mutation | G | T | p.T524N |
| PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT | 46121399 | 46122553 | 46121701 | 46121701 | Missense_Mutation | T | C | p.T524A |
| CAL851_BREAST | 46121399 | 46122553 | 46121767 | 46121767 | Missense_Mutation | G | C | p.L502V |
| GP5D_LARGE_INTESTINE | 46121399 | 46122553 | 46121772 | 46121772 | Missense_Mutation | C | T | p.G500E |
| NCIH2228_LUNG | 46121399 | 46122553 | 46121838 | 46121838 | Missense_Mutation | G | A | p.S478F |
| DU145_PROSTATE | 46121399 | 46122553 | 46121971 | 46121971 | Missense_Mutation | C | A | p.G434W |
| SBC3_LUNG | 46121399 | 46122553 | 46122366 | 46122366 | Missense_Mutation | T | A | p.Q302L |
| YD8_UPPER_AERODIGESTIVE_TRACT | 46121399 | 46122553 | 46122396 | 46122396 | Missense_Mutation | G | A | p.S292F |
| SMSCTR_SOFT_TISSUE | 46121399 | 46122553 | 46122397 | 46122397 | Missense_Mutation | A | G | p.S292P |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 46121399 | 46122553 | 46122411 | 46122411 | Missense_Mutation | T | C | p.Y287C |
| SNU1040_LARGE_INTESTINE | 46121399 | 46122553 | 46122507 | 46122507 | Missense_Mutation | C | T | p.R255Q |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46135264 | 46135411 | 46135287 | 46135287 | Missense_Mutation | T | C | p.K232E |
| OVK18_OVARY | 46135264 | 46135411 | 46135289 | 46135289 | Missense_Mutation | A | G | p.M231T |
| SNU1_STOMACH | 46135264 | 46135411 | 46135290 | 46135290 | Missense_Mutation | T | A | p.M231L |
| OVISE_OVARY | 46135264 | 46135411 | 46135291 | 46135291 | Missense_Mutation | C | A | p.K230N |
| LNCAPCLONEFGC_PROSTATE | 46147414 | 46147481 | 46147471 | 46147471 | Missense_Mutation | C | A | p.G91W |
| MZ7MEL_SKIN | 46148432 | 46148507 | 46148466 | 46148466 | Missense_Mutation | C | T | p.E76K |
| CAL78_BONE | 46148432 | 46148507 | 46148475 | 46148475 | Missense_Mutation | T | C | p.N73D |
| HEC251_ENDOMETRIUM | 46158990 | 46159290 | 46159112 | 46159112 | Missense_Mutation | C | A | p.R21I |
| BE2M17_AUTONOMIC_GANGLIA | 46121399 | 46122553 | 46122112 | 46122112 | Nonsense_Mutation | C | A | p.E387* |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46121399 | 46122553 | 46122472 | 46122472 | Nonsense_Mutation | G | A | p.R267* |
| SNU81_LARGE_INTESTINE | 46158990 | 46159290 | 46159002 | 46159002 | Nonsense_Mutation | G | A | p.R58* |
| HCT15_LARGE_INTESTINE | 46121399 | 46122553 | 46121399 | 46121400 | Splice_Site | - | A | p.L624fs |
| 22RV1_PROSTATE | 46121399 | 46122553 | 46121400 | 46121400 | Splice_Site | A | - | p.L624fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46121399 | 46122553 | 46121400 | 46121400 | Splice_Site | A | - | p.L624fs |
| HCC1569_BREAST | 46121399 | 46122553 | 46121400 | 46121400 | Splice_Site | A | - | p.L624fs |
| SNU407_LARGE_INTESTINE | 46121399 | 46122553 | 46121400 | 46121400 | Splice_Site | A | - | p.L624fs |
| AM38_CENTRAL_NERVOUS_SYSTEM | 46135264 | 46135411 | 46135264 | 46135264 | Splice_Site | C | G | p.K239N |
| LS411N_LARGE_INTESTINE | 46158990 | 46159290 | 46159172 | 46159172 | Start_Codon_SNP | A | G | p.M1T |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZFAND4 |
| 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 ZFAND4 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZFAND4 |
Top |
RelatedDrugs for ZFAND4 |
| 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 ZFAND4 |
| 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)
|