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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 GRHL1 |
 Gene summary |
| Gene information | Gene symbol | GRHL1 | Gene ID | 29841 |
| Gene name | grainyhead like transcription factor 1 | |
| Synonyms | LBP32|MGR|NH32|TFCP2L2 | |
| Cytomap | 2p25.1 | |
| Type of gene | protein-coding | |
| Description | grainyhead-like protein 1 homologLBP protein 32grainyhead-like 1mammalian grainyheadtranscription factor CP2-like 2transcription factor LBP-32 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NZI5 | |
| Context | PubMed: GRHL1 [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 |
| GRHL1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12175488 |
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Exon skipping events across known transcript of Ensembl for GRHL1 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 GRHL1 |
| 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 GRHL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323350 | 2 | 10091910:10091982:10093035:10093189:10095043:10095230 | 10093035:10093189 | ENSG00000134317.13 | ENST00000464418.1 |
| exon_skip_323355 | 2 | 10095043:10095230:10098914:10098985:10101174:10101211 | 10098914:10098985 | ENSG00000134317.13 | ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000405379.2,ENST00000472167.1 |
| exon_skip_323356 | 2 | 10095043:10095230:10098914:10099093:10101174:10101211 | 10098914:10099093 | ENSG00000134317.13 | ENST00000439493.1 |
| exon_skip_323358 | 2 | 10101283:10101565:10102583:10102660:10104014:10104171 | 10102583:10102660 | ENSG00000134317.13 | ENST00000494520.1,ENST00000324907.9,ENST00000497403.1,ENST00000405379.2,ENST00000472167.1 |
| exon_skip_323361 | 2 | 10104363:10104475:10105415:10105510:10126251:10126410 | 10105415:10105510 | ENSG00000134317.13 | ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000405379.2,ENST00000472167.1 |
| exon_skip_323362 | 2 | 10105415:10105510:10126251:10126410:10130823:10130875 | 10126251:10126410 | ENSG00000134317.13 | ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000405379.2,ENST00000472167.1 |
| exon_skip_323363 | 2 | 10130823:10130875:10132134:10132274:10133334:10133372 | 10132134:10132274 | ENSG00000134317.13 | ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000405379.2 |
| exon_skip_323369 | 2 | 10130823:10130901:10132134:10132274:10133334:10133372 | 10132134:10132274 | ENSG00000134317.13 | ENST00000472167.1 |
| exon_skip_323381 | 2 | 10136463:10136529:10139092:10139157:10140720:10140859 | 10139092:10139157 | ENSG00000134317.13 | ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000405379.2,ENST00000480736.1,ENST00000472167.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GRHL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323350 | 2 | 10091910:10091982:10093035:10093189:10095043:10095230 | 10093035:10093189 | ENSG00000134317.13 | ENST00000464418.1 |
| exon_skip_323355 | 2 | 10095043:10095230:10098914:10098985:10101174:10101211 | 10098914:10098985 | ENSG00000134317.13 | ENST00000405379.2,ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000472167.1 |
| exon_skip_323356 | 2 | 10095043:10095230:10098914:10099093:10101174:10101211 | 10098914:10099093 | ENSG00000134317.13 | ENST00000439493.1 |
| exon_skip_323358 | 2 | 10101283:10101565:10102583:10102660:10104014:10104171 | 10102583:10102660 | ENSG00000134317.13 | ENST00000405379.2,ENST00000497403.1,ENST00000324907.9,ENST00000472167.1,ENST00000494520.1 |
| exon_skip_323361 | 2 | 10104363:10104475:10105415:10105510:10126251:10126410 | 10105415:10105510 | ENSG00000134317.13 | ENST00000405379.2,ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000472167.1 |
| exon_skip_323362 | 2 | 10105415:10105510:10126251:10126410:10130823:10130875 | 10126251:10126410 | ENSG00000134317.13 | ENST00000405379.2,ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000472167.1 |
| exon_skip_323363 | 2 | 10130823:10130875:10132134:10132274:10133334:10133372 | 10132134:10132274 | ENSG00000134317.13 | ENST00000405379.2,ENST00000324883.5,ENST00000464418.1,ENST00000324907.9 |
| exon_skip_323369 | 2 | 10130823:10130901:10132134:10132274:10133334:10133372 | 10132134:10132274 | ENSG00000134317.13 | ENST00000472167.1 |
| exon_skip_323381 | 2 | 10136463:10136529:10139092:10139157:10140720:10140859 | 10139092:10139157 | ENSG00000134317.13 | ENST00000405379.2,ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000472167.1,ENST00000480736.1 |
| 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 GRHL1 |
| 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 |
| ENST00000324907 | 10098914 | 10098985 | Frame-shift |
| ENST00000324907 | 10102583 | 10102660 | Frame-shift |
| ENST00000324907 | 10105415 | 10105510 | Frame-shift |
| ENST00000324907 | 10132134 | 10132274 | Frame-shift |
| ENST00000324907 | 10139092 | 10139157 | Frame-shift |
| ENST00000324907 | 10126251 | 10126410 | 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 |
| ENST00000324907 | 10098914 | 10098985 | Frame-shift |
| ENST00000324907 | 10102583 | 10102660 | Frame-shift |
| ENST00000324907 | 10105415 | 10105510 | Frame-shift |
| ENST00000324907 | 10132134 | 10132274 | Frame-shift |
| ENST00000324907 | 10139092 | 10139157 | Frame-shift |
| ENST00000324907 | 10126251 | 10126410 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRHL1 |
| 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 |
| ENST00000324907 | 3580 | 618 | 10126251 | 10126410 | 1247 | 1405 | 370 | 423 |
| 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 |
| ENST00000324907 | 3580 | 618 | 10126251 | 10126410 | 1247 | 1405 | 370 | 423 |
| 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 GRHL1 |
| - 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 |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_323355 | 10098915 | 10098985 | 10098951 | 10098951 | Frame_Shift_Del | G | - | p.E82fs |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_323355 | 10098915 | 10098985 | 10098951 | 10098951 | Frame_Shift_Del | G | - | p.P81fs |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_323356 | 10098915 | 10099093 | 10098951 | 10098951 | Frame_Shift_Del | G | - | p.E82fs |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_323356 | 10098915 | 10099093 | 10098951 | 10098951 | Frame_Shift_Del | G | - | p.P81fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_323362 | 10126252 | 10126410 | 10126343 | 10126343 | Frame_Shift_Del | G | - | p.S401fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_323369 exon_skip_323363 | 10132135 | 10132274 | 10132189 | 10132189 | Frame_Shift_Del | T | - | p.V459fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_323369 exon_skip_323363 | 10132135 | 10132274 | 10132264 | 10132264 | Frame_Shift_Del | G | - | p.R484fs |
| COAD | TCGA-AD-5900-01 | exon_skip_323355 | 10098915 | 10098985 | 10098920 | 10098921 | Frame_Shift_Ins | - | AG | p.P71fs |
| COAD | TCGA-AD-5900-01 | exon_skip_323356 | 10098915 | 10099093 | 10098920 | 10098921 | Frame_Shift_Ins | - | AG | p.P71fs |
| HNSC | TCGA-QK-A6VB-01 | exon_skip_323358 | 10102584 | 10102660 | 10102641 | 10102642 | Frame_Shift_Ins | - | T | p.F243fs |
| SKCM | TCGA-GN-A268-06 | exon_skip_323361 | 10105416 | 10105510 | 10105488 | 10105488 | Nonsense_Mutation | G | A | p.W363* |
| SKCM | TCGA-GN-A268-06 | exon_skip_323361 | 10105416 | 10105510 | 10105488 | 10105488 | Nonsense_Mutation | G | A | p.W363X |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10098915 | 10099093 | 10098920 | 10098921 | Frame_Shift_Ins | - | AG | p.R72fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10098915 | 10098985 | 10098920 | 10098921 | Frame_Shift_Ins | - | AG | p.R72fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 10098915 | 10099093 | 10098951 | 10098951 | Missense_Mutation | G | A | p.E82K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 10098915 | 10098985 | 10098951 | 10098951 | Missense_Mutation | G | A | p.E82K |
| SNU719_STOMACH | 10098915 | 10099093 | 10098967 | 10098967 | Missense_Mutation | A | G | p.E87G |
| SNU719_STOMACH | 10098915 | 10098985 | 10098967 | 10098967 | Missense_Mutation | A | G | p.E87G |
| SNU475_LIVER | 10102584 | 10102660 | 10102621 | 10102621 | Missense_Mutation | G | A | p.G236D |
| NCIH322_LUNG | 10105416 | 10105510 | 10105420 | 10105420 | Missense_Mutation | C | A | p.D340E |
| RVH421_SKIN | 10105416 | 10105510 | 10105446 | 10105446 | Missense_Mutation | G | A | p.S349N |
| HT1197_URINARY_TRACT | 10105416 | 10105510 | 10105446 | 10105446 | Missense_Mutation | G | A | p.S349N |
| TGBC11TKB_STOMACH | 10105416 | 10105510 | 10105464 | 10105464 | Missense_Mutation | C | T | p.A355V |
| HEC251_ENDOMETRIUM | 10132135 | 10132274 | 10132177 | 10132177 | Missense_Mutation | T | C | p.M455T |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10132135 | 10132274 | 10132242 | 10132242 | Missense_Mutation | G | A | p.V477M |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10139093 | 10139157 | 10139140 | 10139140 | Missense_Mutation | C | G | p.F575L |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10139093 | 10139157 | 10139097 | 10139097 | Nonsense_Mutation | C | G | p.S561* |
| RKO_LARGE_INTESTINE | 10139093 | 10139157 | 10139093 | 10139093 | Splice_Site | A | T | p.I560F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRHL1 |
| 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 |
| exon_skip_323362 | 2 | 10105415:10105510:10126251:10126410:10130823:10130875 | 10126251:10126410 | ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000405379.2,ENST00000472167.1 | BRCA | rs2303920 | chr2:10126330 | G/A | 1.36e-03 |
| exon_skip_323362 | 2 | 10105415:10105510:10126251:10126410:10130823:10130875 | 10126251:10126410 | ENST00000324883.5,ENST00000464418.1,ENST00000324907.9,ENST00000405379.2,ENST00000472167.1 | BRCA | rs2303920 | chr2:10126330 | G/A | 1.46e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRHL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRHL1 |
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RelatedDrugs for GRHL1 |
| 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 GRHL1 |
| 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)
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