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| TissGeneSummary for SFTPB |
 Gene summary |
| Basic gene information | Gene symbol | SFTPB |
| Gene name | surfactant protein B | |
| Synonyms | PSP-B|SFTB3|SFTP3|SMDP1|SP-B | |
| Cytomap | UCSC genome browser: 2p12-p11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000542.3, NM_198843.2, | |
| Description | 18 kDa pulmonary-surfactant protein6 kDa proteinpulmonary surfactant-associated protein Bpulmonary surfactant-associated proteolipid SPL(Phe) | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 178640 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000168878 | ||
| HPRD : 01523 | ||
| Vega : OTTHUMG00000130181 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SFTPB | |
| BioGPS: 6439 | ||
| Pathway | NCI Pathway Interaction Database: SFTPB | |
| KEGG: SFTPB | ||
| REACTOME: SFTPB | ||
| Pathway Commons: SFTPB | ||
| Context | iHOP: SFTPB | |
| ligand binding site mutation search in PubMed: SFTPB | ||
| UCL Cancer Institute: SFTPB | ||
| Assigned class in TissGDB* | A | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Lung | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LUAD,LUSC | |
| Reference showing the relevant tissue of SFTPB | Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Peca D, Boldrini R, Johannson J, Shieh JT, Citti A, Petrini S, Salerno T, Cazzato S, Testa R, Messina F, Onofri A, Cenacchi G, Westermark P, Ullmann N, Cogo P, Cutrera R, Danhaive O. Eur J Hum Genet. 2015 Aug;23(8):1033-41. doi: 10.1038/ejhg.2015.45. Epub 2015 Mar 18 (pmid:25782673) go to article | |
| 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. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for SFTPB |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (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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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (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 |
| LUSC | 7.850662017 | 14.22632868 | -6.375666667 | 1.64E-14 | 9.35E-14 |
| THCA | 8.422392592 | 4.623272253 | 3.799120339 | 5.35E-10 | 3.24E-09 |
| LUAD | 11.75991164 | 14.40788233 | -2.64797069 | 5.54E-09 | 2.57E-08 |
| KIRC | -3.112869438 | -0.272193049 | -2.840676389 | 4.38E-16 | 2.39E-15 |
| KICH | 5.788195507 | -0.414144493 | 6.20234 | 1.39E-10 | 1.03E-09 |
| KIRP | -1.822118743 | 0.608121882 | -2.430240625 | 0.000167 | 0.000541061 |
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| TissGene-miRNA for SFTPB |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (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 SFTPB |
| TissGeneSNV for SFTPB |
| nsSNV counts per each loci. 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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| Somatic nucleotide variants of TissGene across 28 cancer types (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.S29F | SKCM | 2 |
| p.S41F | SKCM | 2 |
| p.A45G | STAD | 1 |
| p.Q57* | LUAD | 1 |
| p.D174N | SKCM | 1 |
| p.E70K | SKCM | 1 |
| p.E298K | BLCA | 1 |
| p.H2P | SKCM | 1 |
| p.E15K | READ | 1 |
| p.V241L | LUSC | 1 |
| p.P110S | SKCM | 1 |
| p.R276H | TGCT | 1 |
| p.R177Q | PCPG | 1 |
| p.R307Q | COAD | 1 |
| p.E44* | BLCA | 1 |
| p.R307Q | STAD | 1 |
| p.A33G | STAD | 1 |
| p.Q130R | STAD | 1 |
| p.L393F | LIHC | 1 |
| p.P306L | STAD | 1 |
| p.D186N | SKCM | 1 |
| p.P191L | SKCM | 1 |
| p.G263V | UCS | 1 |
| p.F100L | SKCM | 1 |
| p.P110L | LUAD | 1 |
| p.R165Q | LGG | 1 |
| p.H151Y | STAD | 1 |
| p.V249M | SKCM | 1 |
| p.V338I | UCEC | 1 |
| p.L172R | OV | 1 |
| p.P122S | SKCM | 1 |
| p.H139Y | STAD | 1 |
| p.R165Q | PCPG | 1 |
| p.E58K | SKCM | 1 |
| p.R295Q | STAD | 1 |
| p.Q45* | LUAD | 1 |
| p.V237M | UCEC | 1 |
| p.P294L | STAD | 1 |
| p.A196T | BLCA | 1 |
| p.F88L | SKCM | 1 |
| p.V326I | UCEC | 1 |
| p.Q315* | STAD | 1 |
| p.E345K | SKCM | 1 |
| p.G296V | COAD | 1 |
| p.D392E | LIHC | 1 |
| p.H2P | LGG | 1 |
| p.D117H | BRCA | 1 |
| p.S328Y | LUAD | 1 |
| p.R177Q | COAD | 1 |
| p.D118N | UCEC | 1 |
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| TissGeneCNV for SFTPB |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for SFTPB |
| Fusion genes including TissGene (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 | BF877189 | DPYSL3-SFTPB | chr5:146831387 | chr2:85886076 | |
| Chimerdb3.0 | ChiTaRs | NA | BC020793 | LYST-SFTPB | chr1:236030175 | chr2:85885378 | |
| Chimerdb3.0 | ChiTaRs | NA | BI821350 | SFTPB-TPT1 | chr2:85895312 | chr13:45914711 | |
| Chimerdb3.0 | ChiTaRs | NA | BF849841 | SFTPB-SFTPB | chr2:85891990 | chr2:85891998 | |
| Chimerdb3.0 | ChiTaRs | NA | AY102072 | ACTR3C-SFTPB | chr7:149959438 | chr2:85885270 | |
| Chimerdb3.0 | ChiTaRs | NA | BM998827 | SFTPB-ERP27 | chr2:85886596 | chr12:15070129 | |
| Chimerdb3.0 | ChiTaRs | NA | BF358274 | SFTPB-NFKBIZ | chr2:85888215 | chr3:101575178 | |
| Chimerdb3.0 | ChiTaRs | NA | BE827604 | SFTPB-SFTPB | chr2:85893869 | chr2:85894801 | |
| Chimerdb3.0 | ChiTaRs | NA | BF850323 | SFTPB-AK3 | chr2:85888881 | chr9:4719210 | |
| Chimerdb3.0 | TopHat-Fusion | LUAD | TCGA-97-A4M3-01A | SFTPB-TPT1 | 3'UTR-CDS | chr2:85886326 | chr13:45914858 |
| Chimerdb3.0 | TopHat-Fusion | LUAD | TCGA-35-3615-01A | SFTPB-TPT1 | 3'UTR-CDS | chr2:85886357 | chr13:45913728 |
| Chimerdb3.0 | TopHat-Fusion | LUAD | TCGA-97-8172-01A | SFTPB-TPT1 | CDS-5'UTR | chr2:85889163 | chr13:45915297 |
| Chimerdb3.0 | TopHat-Fusion | LUSC | TCGA-56-7222-11A | SFTPB-SFTPA1 | CDS-3'UTR | chr2:85895321 | chr10:81374943 |
| Chimerdb3.0 | TopHat-Fusion | LUAD | TCGA-44-2661-11A | SFTPB-SFTPC | Out-of-Frame | chr2:85889170 | chr8:22019355 |
| Chimerdb3.0 | TopHat-Fusion | LUAD | TCGA-50-5930-11A | SFTPB-SFTPC | Out-of-Frame | chr2:85889170 | chr8:22019355 |
| Chimerdb3.0 | TopHat-Fusion | LUSC | TCGA-51-4081-11A | SFTPB-SFTPC | Out-of-Frame | chr2:85889170 | chr8:22019355 |
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| TissGeneNet for SFTPB |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| COAD (tumor) | COAD (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| HNSC (tumor) | HNSC (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| KICH (tumor) | KICH (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| KIRC (tumor) | KIRC (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| KIRP (tumor) | KIRP (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| LIHC (tumor) | LIHC (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| LUAD (tumor) | LUAD (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| LUSC (tumor) | LUSC (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (tumor) | SFTPB, RARA, NKX2-1, RARG, FOXF2, CTSH (normal) |
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| TissGeneProg for SFTPB |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (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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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (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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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (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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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (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 SFTPB |
| TissGeneDrug for SFTPB |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for SFTPB |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0035220 | Respiratory Distress Syndrome, Newborn | 31 | BeFree,GAD,RGD |
| umls:C0035222 | Respiratory Distress Syndrome, Adult | 28 | BeFree,GAD,LHGDN |
| umls:C0024115 | Lung diseases | 26 | BeFree,CTD_human,GAD,LHGDN,RGD |
| umls:C1145670 | Respiratory Failure | 16 | BeFree |
| umls:C0024117 | Chronic Obstructive Airway Disease | 14 | BeFree,GAD,LHGDN |
| umls:C0476273 | Respiratory distress | 9 | BeFree |
| umls:C0206062 | Lung Diseases, Interstitial | 8 | BeFree,GAD |
| umls:C0001418 | Adenocarcinoma | 6 | BeFree |
| umls:C0006287 | Bronchopulmonary Dysplasia | 6 | BeFree,GAD |
| umls:C0006012 | Borderline Personality Disorder | 5 | BeFree |
| umls:C0032285 | Pneumonia | 5 | BeFree,GAD |
| umls:C0034050 | Pulmonary Alveolar Proteinosis | 5 | BeFree |
| umls:C0004096 | Asthma | 4 | BeFree,GAD,RGD |
| umls:C0242379 | Malignant neoplasm of lung | 4 | BeFree,GAD |
| umls:C0152013 | Adenocarcinoma of lung (disorder) | 3 | BeFree |
| umls:C0521648 | Neonatal respiratory failure | 3 | BeFree |
| umls:C0684249 | Carcinoma of lung | 3 | BeFree |
| umls:C0746102 | Chronic lung disease | 3 | BeFree |
| umls:C0852283 | Respiratory Distress Syndrome | 3 | GAD |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 2 | BeFree |
| umls:C0019284 | Diaphragmatic Hernia | 2 | CTD_human |
| umls:C0024121 | Lung Neoplasms | 2 | CTD_human,GAD |
| umls:C0035204 | Respiration Disorders | 2 | BeFree |
| umls:C0035235 | Respiratory Syncytial Virus Infections | 2 | BeFree,GAD |
| umls:C0035242 | Respiratory Tract Diseases | 2 | BeFree |
| umls:C0243026 | Sepsis | 2 | GAD |
| umls:C0694549 | Community acquired pneumonia | 2 | BeFree |
| umls:C3714514 | Infection | 2 | LHGDN |
| umls:C0000768 | Congenital Abnormality | 1 | BeFree |
| umls:C0003130 | Anoxia | 1 | GAD |
| umls:C0004626 | Pneumonia, Bacterial | 1 | RGD |
| umls:C0006274 | Bronchiolitis, Viral | 1 | GAD |
| umls:C0007121 | Bronchogenic Carcinoma | 1 | BeFree |
| umls:C0010674 | Cystic Fibrosis | 1 | LHGDN |
| umls:C0013990 | Pathological accumulation of air in tissues | 1 | GAD |
| umls:C0020440 | Hypercapnia | 1 | GAD |
| umls:C0020459 | Hyperinsulinism | 1 | BeFree |
| umls:C0020542 | Pulmonary Hypertension | 1 | GAD |
| umls:C0020630 | Hypophosphatasia | 1 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
| umls:C0028754 | Obesity | 1 | RGD |
| umls:C0034063 | Pulmonary Edema | 1 | BeFree |
| umls:C0034067 | Pulmonary Emphysema | 1 | BeFree |
| umls:C0034069 | Pulmonary Fibrosis | 1 | GAD |
| umls:C0036421 | Systemic Scleroderma | 1 | BeFree,GAD,LHGDN |
| umls:C0149782 | Squamous cell carcinoma of lung | 1 | BeFree |
| umls:C0152021 | Congenital heart disease | 1 | BeFree |
| umls:C0206682 | Follicular thyroid carcinoma | 1 | BeFree |
| umls:C0220810 | Congenital defects | 1 | BeFree |
| umls:C0221757 | alpha 1-Antitrypsin Deficiency | 1 | GAD |
| umls:C0235833 | Congenital diaphragmatic hernia | 1 | BeFree |
| umls:C0242706 | Hyperoxia | 1 | RGD |
| umls:C0264936 | Secondary pulmonary hypertension | 1 | BeFree |
| umls:C0265783 | Congenital hypoplasia of lung | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0600260 | Lung Diseases, Obstructive | 1 | BeFree |
| umls:C0876973 | Infectious disease of lung | 1 | BeFree |
| umls:C1135361 | Persistent pulmonary hypertension | 1 | BeFree |
| umls:C1334455 | Pulmonary Sclerosing Hemangioma | 1 | LHGDN |
| umls:C1800706 | Idiopathic Pulmonary Fibrosis | 1 | BeFree |
| umls:C1968602 | Surfactant Metabolism Dysfunction, Pulmonary, 1 | 1 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C2931035 | Pulmonary alveolar proteinosis, congenital | 1 | BeFree |
| umls:C2931829 | RDS - infants | 1 | BeFree |
| umls:C3179539 | Congenital Deficiency of Pulmonary Surfactant Protein B | 1 | BeFree |
| umls:C3711368 | Surfactant Dysfunction | 1 | BeFree |
| umls:C1968593 | Respiratory Distress Syndrome In Premature Infants | 0 | ORPHANET |
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