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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 SALL2 |
 Gene summary |
| Gene information | Gene symbol | SALL2 | Gene ID | 6297 |
| Gene name | spalt like transcription factor 2 | |
| Synonyms | COLB|HSAL2|Sal-2|ZNF795|p150(Sal2) | |
| Cytomap | 14q11.2 | |
| Type of gene | protein-coding | |
| Description | sal-like protein 2zinc finger protein 795zinc finger protein SALL2zinc finger protein Spalt-2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y467 | |
| Context | PubMed: SALL2 [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 |
| SALL2 | GO:0001654 | eye development | 24412933 |
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Exon skipping events across known transcript of Ensembl for SALL2 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 SALL2 |
| 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 SALL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_111359 | 14 | 21989672:21990378:21990966:21993065:21993470:21993591 | 21990966:21993065 | ENSG00000165821.7 | ENST00000450879.2,ENST00000546363.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SALL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_111359 | 14 | 21989672:21990378:21990966:21993065:21993470:21993591 | 21990966:21993065 | ENSG00000165821.7 | ENST00000546363.1,ENST00000450879.2 |
| 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 SALL2 |
| 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 SALL2 |
| 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 SALL2 |
| - 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_111359 | 21990967 | 21993065 | 21991262 | 21991262 | Frame_Shift_Del | C | - | p.G867fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_111359 | 21990967 | 21993065 | 21991629 | 21991629 | Frame_Shift_Del | C | - | p.A745fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_111359 | 21990967 | 21993065 | 21991715 | 21991715 | Frame_Shift_Del | C | - | p.G716fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_111359 | 21990967 | 21993065 | 21991715 | 21991715 | Frame_Shift_Del | C | - | p.G716fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_111359 | 21990967 | 21993065 | 21991973 | 21991973 | Frame_Shift_Del | G | - | p.P630fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_111359 | 21990967 | 21993065 | 21992069 | 21992069 | Frame_Shift_Del | T | - | p.K598fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_111359 | 21990967 | 21993065 | 21992140 | 21992140 | Frame_Shift_Del | G | - | p.P574fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_111359 | 21990967 | 21993065 | 21992238 | 21992238 | Frame_Shift_Del | T | - | p.S543fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_111359 | 21990967 | 21993065 | 21992276 | 21992276 | Frame_Shift_Del | G | - | p.P529fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_111359 | 21990967 | 21993065 | 21992285 | 21992285 | Frame_Shift_Del | T | - | p.N526fs |
| LIHC | TCGA-BC-A10Z-01 | exon_skip_111359 | 21990967 | 21993065 | 21991412 | 21991413 | Frame_Shift_Ins | - | C | p.A817fs |
| KIRC | TCGA-A3-3319-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| KIRC | TCGA-AK-3447-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| KIRC | TCGA-AK-3465-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| LUAD | TCGA-35-3615-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| LUAD | TCGA-44-2656-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| LUAD | TCGA-44-2665-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| LUAD | TCGA-55-1592-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| LUAD | TCGA-55-1594-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| LUAD | TCGA-64-1678-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.P529fs |
| LUAD | TCGA-64-1678-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| LUAD | TCGA-67-3770-01 | exon_skip_111359 | 21990967 | 21993065 | 21992275 | 21992276 | Frame_Shift_Ins | - | G | p.R529fs |
| BLCA | TCGA-DK-A3IT-01 | exon_skip_111359 | 21990967 | 21993065 | 21991095 | 21991095 | Nonsense_Mutation | G | A | p.Q923* |
| ESCA | TCGA-LN-A4A9-01 | exon_skip_111359 | 21990967 | 21993065 | 21991232 | 21991232 | Nonsense_Mutation | G | T | p.S877X |
| OV | TCGA-23-2079-01 | exon_skip_111359 | 21990967 | 21993065 | 21991569 | 21991569 | Nonsense_Mutation | C | A | p.E765* |
| STAD | TCGA-IN-A6RL-01 | exon_skip_111359 | 21990967 | 21993065 | 21992025 | 21992025 | Nonsense_Mutation | C | A | p.G613* |
| STAD | TCGA-IN-A6RL-01 | exon_skip_111359 | 21990967 | 21993065 | 21992025 | 21992025 | Nonsense_Mutation | C | A | p.G613X |
| - 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 |
| NCIH650_LUNG | 21990967 | 21993065 | 21991452 | 21991452 | Frame_Shift_Del | C | - | p.E804fs |
| DOV13_OVARY | 21990967 | 21993065 | 21992276 | 21992276 | Frame_Shift_Del | G | - | p.P529fs |
| SISO_CERVIX | 21990967 | 21993065 | 21992276 | 21992276 | Frame_Shift_Del | G | - | p.P529fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992276 | 21992276 | Frame_Shift_Del | G | - | p.P529fs |
| TGBC11TKB_STOMACH | 21990967 | 21993065 | 21992276 | 21992276 | Frame_Shift_Del | G | - | p.P529fs |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992276 | 21992276 | Frame_Shift_Del | G | - | p.P529fs |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 21990967 | 21993065 | 21991579 | 21991581 | In_Frame_Del | CTC | - | p.E761del |
| SKMEL2_SKIN | 21990967 | 21993065 | 21991055 | 21991055 | Missense_Mutation | T | A | p.E936V |
| HS633T_SOFT_TISSUE | 21990967 | 21993065 | 21991106 | 21991106 | Missense_Mutation | G | A | p.A919V |
| MFE319_ENDOMETRIUM | 21990967 | 21993065 | 21991163 | 21991163 | Missense_Mutation | A | G | p.M900T |
| ZR751_BREAST | 21990967 | 21993065 | 21991166 | 21991166 | Missense_Mutation | G | A | p.A899V |
| IGROV1_OVARY | 21990967 | 21993065 | 21991171 | 21991171 | Missense_Mutation | C | A | p.Q897H |
| SKMES1_LUNG | 21990967 | 21993065 | 21991256 | 21991256 | Missense_Mutation | G | A | p.P869L |
| OVMIU_OVARY | 21990967 | 21993065 | 21991338 | 21991338 | Missense_Mutation | G | T | p.P842T |
| MDAMB415_BREAST | 21990967 | 21993065 | 21991375 | 21991375 | Missense_Mutation | C | G | p.E829D |
| SKGT2_STOMACH | 21990967 | 21993065 | 21991383 | 21991383 | Missense_Mutation | T | C | p.S827G |
| NCIH1666_LUNG | 21990967 | 21993065 | 21991424 | 21991424 | Missense_Mutation | C | A | p.G813V |
| SW684_SOFT_TISSUE | 21990967 | 21993065 | 21991584 | 21991584 | Missense_Mutation | C | T | p.E760K |
| HCC1569_BREAST | 21990967 | 21993065 | 21991589 | 21991589 | Missense_Mutation | G | A | p.P758L |
| 253J_URINARY_TRACT | 21990967 | 21993065 | 21991590 | 21991590 | Missense_Mutation | G | T | p.P758T |
| 253JBV_URINARY_TRACT | 21990967 | 21993065 | 21991590 | 21991590 | Missense_Mutation | G | T | p.P758T |
| UMC11_LUNG | 21990967 | 21993065 | 21991674 | 21991674 | Missense_Mutation | C | T | p.G730R |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21991694 | 21991694 | Missense_Mutation | G | A | p.T723I |
| MPP89_PLEURA | 21990967 | 21993065 | 21991722 | 21991722 | Missense_Mutation | G | C | p.L714V |
| HEC1B_ENDOMETRIUM | 21990967 | 21993065 | 21991802 | 21991802 | Missense_Mutation | G | A | p.A687V |
| SW1353_BONE | 21990967 | 21993065 | 21991811 | 21991811 | Missense_Mutation | C | G | p.S684T |
| NCIH2286_LUNG | 21990967 | 21993065 | 21991935 | 21991935 | Missense_Mutation | G | T | p.P643T |
| CW2_LARGE_INTESTINE | 21990967 | 21993065 | 21992121 | 21992121 | Missense_Mutation | G | A | p.P581S |
| MCC13_SKIN | 21990967 | 21993065 | 21992136 | 21992136 | Missense_Mutation | G | A | p.P576S |
| LAN6_AUTONOMIC_GANGLIA | 21990967 | 21993065 | 21992174 | 21992174 | Missense_Mutation | A | G | p.L563P |
| PATU8902_PANCREAS | 21990967 | 21993065 | 21992222 | 21992222 | Missense_Mutation | C | T | p.R547H |
| HSC1_SKIN | 21990967 | 21993065 | 21992321 | 21992321 | Missense_Mutation | A | G | p.M514T |
| 639V_URINARY_TRACT | 21990967 | 21993065 | 21992478 | 21992478 | Missense_Mutation | C | T | p.E462K |
| GP2D_LARGE_INTESTINE | 21990967 | 21993065 | 21992534 | 21992534 | Missense_Mutation | T | C | p.Y443C |
| GP5D_LARGE_INTESTINE | 21990967 | 21993065 | 21992534 | 21992534 | Missense_Mutation | T | C | p.Y443C |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992594 | 21992594 | Missense_Mutation | T | C | p.H423R |
| PC14_LUNG | 21990967 | 21993065 | 21992643 | 21992643 | Missense_Mutation | C | T | p.G407R |
| SNU1040_LARGE_INTESTINE | 21990967 | 21993065 | 21992691 | 21992691 | Missense_Mutation | G | A | p.H391Y |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992727 | 21992727 | Missense_Mutation | C | T | p.A379T |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992730 | 21992730 | Missense_Mutation | A | C | p.C378G |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992735 | 21992735 | Missense_Mutation | C | T | p.R376H |
| MEWO_SKIN | 21990967 | 21993065 | 21992769 | 21992769 | Missense_Mutation | G | A | p.P365S |
| NCIH2135_LUNG | 21990967 | 21993065 | 21992784 | 21992784 | Missense_Mutation | C | T | p.G360R |
| HEC108_ENDOMETRIUM | 21990967 | 21993065 | 21992787 | 21992787 | Missense_Mutation | A | G | p.Y359H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992826 | 21992826 | Missense_Mutation | C | A | p.G346W |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21992943 | 21992943 | Missense_Mutation | G | A | p.P307S |
| NCIH630_LARGE_INTESTINE | 21990967 | 21993065 | 21992952 | 21992952 | Missense_Mutation | G | A | p.P304S |
| NCIH2110_LUNG | 21990967 | 21993065 | 21992988 | 21992988 | Missense_Mutation | C | G | p.V292L |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21990967 | 21993065 | 21993053 | 21993053 | Missense_Mutation | G | A | p.P270L |
| SH10TC_STOMACH | 21990967 | 21993065 | 21991299 | 21991299 | Nonsense_Mutation | C | A | p.G855* |
| HCC2450_LUNG | 21990967 | 21993065 | 21991988 | 21991988 | Nonsense_Mutation | G | C | p.S625* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SALL2 |
| 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 SALL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SALL2 |
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RelatedDrugs for SALL2 |
| 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 SALL2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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