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TissGeneSummary for SLC4A1 |
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Basic gene information | Gene symbol | SLC4A1 |
Gene name | solute carrier family 4 (anion exchanger), member 1 (Diego blood group) | |
Synonyms | AE1|BND3|CD233|DI|EMPB3|EPB3|FR|RTA1A|SW|WD|WD1|WR | |
Cytomap | UCSC genome browser: 17q21.31 | |
Type of gene | protein-coding | |
RefGenes | NM_000342.3, | |
Description | Diego blood groupFroese blood groupSwann blood groupWaldner blood groupWright blood groupanion exchange protein 1anion exchanger 1anion exchanger-1band 3 anion transport proteinerythrocyte membrane protein band 3erythroid anion exchange protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 109270 | |
HGNC : HGNC | ||
Ensembl : ENSG00000004939 | ||
HPRD : 00175 | ||
Vega : OTTHUMG00000156843 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SLC4A1 | |
BioGPS: 6521 | ||
Pathway | NCI Pathway Interaction Database: SLC4A1 | |
KEGG: SLC4A1 | ||
REACTOME: SLC4A1 | ||
Pathway Commons: SLC4A1 | ||
Context | iHOP: SLC4A1 | |
ligand binding site mutation search in PubMed: SLC4A1 | ||
UCL Cancer Institute: SLC4A1 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,TiGER | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Bone marrowLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LAMLLIHC | |
Reference showing the relevant tissue of SLC4A1 | ||
Description by TissGene annotations | Cancer gene |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
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GO ID | GO term | PubMed ID | GO:0006820 | anion transport | 14734552 | GO:0015701 | bicarbonate transport | 24121512 | GO:0006820 | anion transport | 14734552 | GO:0015701 | bicarbonate transport | 24121512 |
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TissGeneExp for SLC4A1 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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![]() (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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![]() (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
KIRP | -0.734677888 | 8.960197112 | -9.694875 | 8.77E-24 | 8.66E-22 |
COAD | -3.010374522 | -1.807039907 | -1.203334615 | 1.74E-05 | 7.53E-05 |
KIRC | 0.259824196 | 8.83758114 | -8.577756944 | 9.76E-40 | 3.84E-38 |
LUSC | -2.281732667 | 0.365973215 | -2.647705882 | 3.82E-18 | 3.57E-17 |
LUAD | -1.812736724 | 0.249475345 | -2.062212069 | 3.56E-11 | 2.27E-10 |
THCA | -2.177749816 | -1.113890494 | -1.063859322 | 3.08E-09 | 1.65E-08 |
LIHC | -2.027547138 | -0.792969138 | -1.234578 | 0.000264 | 0.000823517 |
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TissGene-miRNA for SLC4A1 |
![]() (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for SLC4A1 |
TissGeneSNV for SLC4A1 |
![]() Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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![]() (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.E68K | SKCM | 2 |
p.G565D | SKCM | 2 |
p.E20K | SKCM | 2 |
p.L765M | SKCM | 1 |
p.Q348E | LUAD | 1 |
p.A716D | BRCA | 1 |
p.R808C | DLBC | 1 |
p.R808P | LUSC | 1 |
p.L308M | READ | 1 |
p.T798M | LUSC | 1 |
p.R387W | UCEC | 1 |
p.R344* | UCEC | 1 |
p.R388H | STAD | 1 |
p.S594R | LUAD | 1 |
p.E897* | SARC | 1 |
p.G172V | LUSC | 1 |
p.Q754H | LUSC | 1 |
p.E13X | COAD | 1 |
p.V850A | STAD | 1 |
p.L16M | LUAD | 1 |
p.E472K | HNSC | 1 |
p.E906K | SKCM | 1 |
p.R879K | SKCM | 1 |
p.T746S | LUAD | 1 |
p.Q752* | LUAD | 1 |
p.F476C | SKCM | 1 |
p.N556S | SKCM | 1 |
p.E306K | SKCM | 1 |
p.L772M | LUAD | 1 |
p.G565S | SKCM | 1 |
p.K219R | DLBC | 1 |
p.A735V | SKCM | 1 |
p.D399N | SKCM | 1 |
p.R304P | HNSC | 1 |
p.G720E | SKCM | 1 |
p.H51Q | STAD | 1 |
p.R80H | KIRC | 1 |
p.D905E | DLBC | 1 |
p.A284V | SKCM | 1 |
p.R150Q | GBM | 1 |
p.R387Q | GBM | 1 |
p.R432W | PRAD | 1 |
p.R514H | COAD | 1 |
p.A855V | STAD | 1 |
p.Q5R | UCEC | 1 |
p.E899D | SKCM | 1 |
p.G313V | UVM | 1 |
p.E63D | LGG | 1 |
p.E257K | SKCM | 1 |
p.P910L | UCEC | 1 |
p.A400S | LIHC | 1 |
p.E90K | SKCM | 1 |
p.P368T | LUAD | 1 |
p.A735V | COAD | 1 |
p.S574F | SKCM | 1 |
p.R346C | COAD | 1 |
p.V488M | STAD | 1 |
p.A79V | STAD | 1 |
p.E2K | SKCM | 1 |
p.R80H | STAD | 1 |
p.G380R | COAD | 1 |
p.G494S | LGG | 1 |
p.T422N | BLCA | 1 |
p.R827_splice | UCEC | 1 |
p.E90D | COAD | 1 |
p.S212L | LUAD | 1 |
p.T422N | LGG | 1 |
p.R387W | STAD | 1 |
p.A407S | OV | 1 |
p.E508K | LUAD | 1 |
p.R80C | READ | 1 |
p.R344X | READ | 1 |
p.G270E | BLCA | 1 |
p.V825I | PRAD | 1 |
p.R782H | LUAD | 1 |
p.R901Q | UCEC | 1 |
p.R827Q | UCEC | 1 |
p.E480K | HNSC | 1 |
p.R346C | STAD | 1 |
p.A579V | COAD | 1 |
p.T179P | LUAD | 1 |
p.V729M | BRCA | 1 |
p.G313D | SKCM | 1 |
p.R694H | STAD | 1 |
p.L382M | LGG | 1 |
p.A908T | SKCM | 1 |
p.P692A | GBM | 1 |
p.A767T | GBM | 1 |
p.Y347F | LIHC | 1 |
p.E32D | COAD | 1 |
p.R389C | COAD | 1 |
p.N880I | UCEC | 1 |
p.E535D | LUAD | 1 |
p.G270E | SKCM | 1 |
p.G701D | STAD | 1 |
p.G89V | LUAD | 1 |
p.A78V | STAD | 1 |
p.E109K | SKCM | 1 |
p.L573I | COAD | 1 |
p.G599D | THYM | 1 |
p.P52T | THYM | 1 |
p.M586I | SKCM | 1 |
p.T728I | SKCM | 1 |
p.P184S | SKCM | 1 |
p.R808S | LUAD | 1 |
p.Q239K | LUAD | 1 |
p.R180C | LUAD | 1 |
p.R432W | KIRP | 1 |
p.E151* | LUAD | 1 |
p.M587I | UCEC | 1 |
p.Y393N | SKCM | 1 |
p.T798M | KIRC | 1 |
p.E14D | SKCM | 1 |
p.L136I | SARC | 1 |
p.L120F | SKCM | 1 |
p.A286S | CESC | 1 |
p.G182R | READ | 1 |
p.F895I | LIHC | 1 |
p.E777D | LUAD | 1 |
p.R384C | ESCA | 1 |
p.Q804* | LUAD | 1 |
p.S781F | LIHC | 1 |
p.V256L | LUAD | 1 |
p.D905N | SKCM | 1 |
p.R808H | LUSC | 1 |
p.R782L | LUSC | 1 |
p.R150P | CESC | 1 |
p.S856F | SKCM | 1 |
p.L121P | BLCA | 1 |
p.F411S | BRCA | 1 |
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TissGeneCNV for SLC4A1 |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for SLC4A1 |
![]() (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | AJ709327 | SLC4A1-TCF7L1 | chr17:42325911 | chr2:85362506 |
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TissGeneNet for SLC4A1 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for SLC4A1 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for SLC4A1 |
TissGeneDrug for SLC4A1 |
![]() (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for SLC4A1 |
![]() (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1704380 | Distal Renal Tubular Acidosis | 43 | BeFree,UNIPROT |
umls:C0037889 | Hereditary spherocytosis | 16 | BeFree,CTD_human,LHGDN,ORPHANET |
umls:C2675212 | Spherocytosis, Type 4 | 15 | CLINVAR,CTD_human,MGD,UNIPROT |
umls:C2674218 | SPHEROCYTOSIS, TYPE 1 (disorder) | 13 | BeFree |
umls:C0001126 | Renal tubular acidosis | 12 | BeFree,CTD_human,LHGDN |
umls:C0019202 | Hepatolenticular Degeneration | 10 | BeFree |
umls:C0013902 | Elliptocytosis, Hereditary | 8 | BeFree,CTD_human,GAD |
umls:C0002878 | Anemia, Hemolytic | 6 | BeFree,CTD_human,LHGDN |
umls:C0024530 | Malaria | 5 | BeFree,CTD_human,LHGDN |
umls:C0002871 | Anemia | 3 | BeFree |
umls:C0024623 | Malignant neoplasm of stomach | 3 | BeFree |
umls:C0699791 | Stomach Carcinoma | 3 | BeFree |
umls:C1262483 | Hereditary stomatocytosis | 3 | BeFree |
umls:C0002881 | Anemia, Hemolytic, Congenital | 2 | BeFree |
umls:C0039730 | Thalassemia | 2 | BeFree |
umls:C0272048 | stomatocytic anemia | 2 | BeFree |
umls:C0596263 | Carcinogenesis | 2 | BeFree |
umls:C1861453 | Pseudohyperkalemia Cardiff | 2 | BeFree,CLINVAR,ORPHANET |
umls:C1864498 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | 2 | BeFree,CTD_human,MGD |
umls:C1969038 | RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) | 2 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0001418 | Adenocarcinoma | 1 | LHGDN |
umls:C0003130 | Anoxia | 1 | LHGDN |
umls:C0005283 | beta Thalassemia | 1 | LHGDN |
umls:C0015544 | Failure to Thrive | 1 | BeFree,LHGDN |
umls:C0018609 | Hartnup Disease | 1 | BeFree |
umls:C0018939 | Hematological Disease | 1 | CTD_human |
umls:C0019045 | Hemoglobinopathies | 1 | BeFree,LHGDN |
umls:C0020503 | Hyperparathyroidism, Secondary | 1 | GAD |
umls:C0020538 | Hypertensive disease | 1 | BeFree |
umls:C0022661 | Kidney Failure, Chronic | 1 | LHGDN |
umls:C0024534 | Malaria, Cerebral | 1 | BeFree |
umls:C0027654 | Embryonal Neoplasm | 1 | BeFree |
umls:C0027709 | Nephrocalcinosis | 1 | BeFree,LHGDN |
umls:C0028754 | Obesity | 1 | GWASCAT |
umls:C0029454 | Osteopetrosis | 1 | BeFree |
umls:C0033117 | Priapism | 1 | BeFree,GAD |
umls:C0033626 | Protein Deficiency | 1 | BeFree |
umls:C0035078 | Kidney Failure | 1 | BeFree |
umls:C0042875 | Vitamin E Deficiency | 1 | RGD |
umls:C0162316 | Iron deficiency anemia | 1 | RGD |
umls:C0162809 | Kallmann Syndrome | 1 | BeFree |
umls:C0268435 | Renal Tubular Acidosis, Type II | 1 | BeFree |
umls:C0553720 | Spherocytosis | 1 | GAD |
umls:C0687120 | Nephronophthisis | 1 | BeFree |
umls:C1306589 | Congenital dyserythropoietic anemia, type II | 1 | BeFree |
umls:C1561643 | Chronic Kidney Diseases | 1 | BeFree |
umls:C1565489 | Renal Insufficiency | 1 | BeFree |
umls:C3714514 | Infection | 1 | LHGDN |
umls:C0221409 | Anemia, hereditary spherocytic hemolytic | 0 | ORPHANET |
umls:C1832168 | BLOOD GROUP--FROESE | 0 | CLINVAR |
umls:C1833690 | Ovalocytosis, Hereditary Hemolytic | 0 | ORPHANET |
umls:C1862190 | BLOOD GROUP--WRIGHT ANTIGEN | 0 | CLINVAR |
umls:C1862191 | BLOOD GROUP--WALDNER TYPE | 0 | CLINVAR |
umls:C1862326 | HE, STOMATOCYTIC | 0 | CLINVAR |
umls:C1969039 | Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology | 0 | CLINVAR |
umls:C1969379 | MALARIA, CEREBRAL, RESISTANCE TO | 0 | CLINVAR |