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mutLBSgeneDB |
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| Gene summary for HLTF |
 Gene summary |
| Basic gene Info. | Gene symbol | HLTF |
| Gene name | helicase-like transcription factor | |
| Synonyms | HIP116|HIP116A|HLTF1|RNF80|SMARCA3|SNF2L3|ZBU1 | |
| Cytomap | UCSC genome browser: 3q25.1-q26.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003071.3, NM_139048.2, | |
| Description | DNA-binding protein/plasminogen activator inhibitor 1 regulatorDNA-binding protein/plasminogen activator inhibitor-1 regulatorRING finger protein 80SNF2-like 3SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, mem | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603257 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000071794 | ||
| HPRD : 04461 | ||
| Vega : OTTHUMG00000159534 | ||
| Protein | UniProt: Q14527 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HLTF | |
| BioGPS: 6596 | ||
| Pathway | NCI Pathway Interaction Database: HLTF | |
| KEGG: HLTF | ||
| REACTOME: HLTF | ||
| Pathway Commons: HLTF | ||
| Context | iHOP: HLTF | |
| ligand binding site mutation search in PubMed: HLTF | ||
| UCL Cancer Institute: HLTF | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for HLTF |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D94 | D94G | COAD | 1 | P173 | L171F | HNSC | 1 | D94 | N96H | UCEC | 1 | D94 | K95N | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for HLTF |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | D94 | D94G | -1.207452 | D94 | K95N | -1.1450866 | D94 | N96H | -0.67218375 | P173 | L171F | -0.58169595 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for HLTF from PDB |
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| Differential gene expression and gene-gene network for HLTF |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for HLTF |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0022665 | Kidney Neoplasms | 2 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HLTF |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HLTF go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4xzf | A | D94 | NUC | Nucleic Acids | 4s0n | A | D94 | NUC | Nucleic Acids | 4s0n | B | D94 | NUC | Nucleic Acids | 4s0n | C | D94 | NUC | Nucleic Acids | 4s0n | D | D94 | NUC | Nucleic Acids | 4s0n | D | P173 |
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| Conservation information for LBS of HLTF |
| Multiple alignments for Q14527 in multiple species |
| LBS | AA sequence | # species | Species | D88 | VALQRDPNNPY | 1 | Homo sapiens | D88 | VGLVREPLNVY | 1 | Arabidopsis thaliana | D88 | VALQREPNNPY | 1 | Mus musculus | D94 | PNNPYDKNAIK | 2 | Homo sapiens, Mus musculus | D94 | PLNVYDNNAIR | 1 | Arabidopsis thaliana | F142 | NNA--FTMPLH | 1 | Homo sapiens | F142 | SNSNRYRIPCQ | 1 | Arabidopsis thaliana | F142 | SNT--FTMPLY | 1 | Mus musculus | F5 | 3 | Homo sapiens, Arabidopsis thaliana, Mus musculus | G168 | QLKKHGFKLGP | 2 | Homo sapiens, Mus musculus | G168 | TISRGGLVLIS | 1 | Arabidopsis thaliana | G69 | RGHVVGLRYYT | 1 | Homo sapiens | G69 | IANIVGLKYYS | 1 | Arabidopsis thaliana | G69 | RGQVVGLRYYT | 1 | Mus musculus | H110 | GNQVGHLKKEL | 1 | Homo sapiens | H110 | SEQVGHIERTV | 1 | Arabidopsis thaliana | H110 | GNQVGHIKREI | 1 | Mus musculus | H147 | FTMPLHMTFWG | 1 | Homo sapiens | H147 | YRIPCQIHVFA | 1 | Arabidopsis thaliana | H147 | FTMPLYMTFWG | 1 | Mus musculus | K112 | QVGHLKKELAG | 1 | Homo sapiens | K112 | QVGHIERTVAA | 1 | Arabidopsis thaliana | K112 | QVGHIKREIAA | 1 | Mus musculus | K113 | VGHLKKELAGA | 1 | Homo sapiens | K113 | VGHIERTVAAV | 1 | Arabidopsis thaliana | K113 | VGHIKREIAAA | 1 | Mus musculus | K99 | DKNAIKVNNVN | 2 | Homo sapiens, Mus musculus | K99 | DNNAIRVLNTR | 1 | Arabidopsis thaliana | L111 | NQVGHLKKELA | 1 | Homo sapiens | L111 | EQVGHIERTVA | 1 | Arabidopsis thaliana | L111 | NQVGHIKREIA | 1 | Mus musculus | N90 | LQRDPNNPYDK | 1 | Homo sapiens | N90 | LVREPLNVYDN | 1 | Arabidopsis thaliana | N90 | LQREPNNPYDK | 1 | Mus musculus | N91 | QRDPNNPYDKN | 1 | Homo sapiens | N91 | VREPLNVYDNN | 1 | Arabidopsis thaliana | N91 | QREPNNPYDKN | 1 | Mus musculus | P173 | GFKLGPAPKTL | 1 | Homo sapiens | P173 | GLVLISESDTS | 1 | Arabidopsis thaliana | P173 | GFKLGPTPKTL | 1 | Mus musculus | P89 | ALQRDPNNPYD | 1 | Homo sapiens | P89 | GLVREPLNVYD | 1 | Arabidopsis thaliana | P89 | ALQREPNNPYD | 1 | Mus musculus | Q86 | EMVALQRDPNN | 1 | Homo sapiens | Q86 | EMVGLVREPLN | 1 | Arabidopsis thaliana | Q86 | EMVALQREPNN | 1 | Mus musculus | R64 | LFGSLRGHVVG | 1 | Homo sapiens | R64 | LIGFVIANIVG | 1 | Arabidopsis thaliana | R64 | LFGTMRGQVVG | 1 | Mus musculus | R87 | MVALQRDPNNP | 1 | Homo sapiens | R87 | MVGLVREPLNV | 1 | Arabidopsis thaliana | R87 | MVALQREPNNP | 1 | Mus musculus | S62 | SVLFGSLRGHV | 1 | Homo sapiens | S62 | SYLIGFVIANI | 1 | Arabidopsis thaliana | S62 | LVLFGTMRGQV | 1 | Mus musculus | V68 | LRGHVVGLRYY | 1 | Homo sapiens | V68 | VIANIVGLKYY | 1 | Arabidopsis thaliana | V68 | MRGQVVGLRYY | 1 | Mus musculus | Y72 | VVGLRYYTGVV | 2 | Homo sapiens, Mus musculus | Y72 | IVGLKYYSGRI | 1 | Arabidopsis thaliana | Y73 | VGLRYYTGVVN | 2 | Homo sapiens, Mus musculus | Y73 | VGLKYYSGRIN | 1 | Arabidopsis thaliana | Y93 | DPNNPYDKNAI | 1 | Homo sapiens | Y93 | EPLNVYDNNAI | 1 | Arabidopsis thaliana | Y93 | EPNNPYDKNAI | 1 | Mus musculus |
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