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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 17alpha-ethynylestradiol | multiple interactions | ISO | RGD:1318196 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TOR1B mRNA | CTD | PMID:17942748 | 2,2',4,4'-Tetrabromodiphenyl ether | increases expression | ISO | RGD:1308431 | 6480464 | 2 more ... | CTD | PMID:27291303 | 2,3,7,8-tetrachlorodibenzodioxine | multiple interactions | ISO | RGD:1318196 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TOR1B mRNA, [TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of TOR1B mRNA | CTD | PMID:17942748, PMID:25975270 | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:1318196 | 6480464 | Tetrachlorodibenzodioxin affects the expression of TOR1B mRNA | CTD | PMID:21570461 | 2,4-dinitrotoluene | affects expression | ISO | RGD:1308431 | 6480464 | 2, 4-dinitrotoluene affects the expression of TOR1B mRNA | CTD | PMID:21346803 | 2-hydroxypropanoic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of TOR1B mRNA | CTD | PMID:30851411 | 3,3',4,4'-tetrachlorobiphenyl | multiple interactions | ISO | RGD:1318196 | 6480464 | 3 more ... | CTD | PMID:19467301 | 3,4-methylenedioxymethamphetamine | increases expression | ISO | RGD:1318196 | 6480464 | N-Methyl-3, 4-methylenedioxyamphetamine results in increased expression of TOR1B mRNA | CTD | PMID:20188158 | acrylamide | increases expression | ISO | RGD:1308431 | 6480464 | Acrylamide results in increased expression of TOR1B mRNA | CTD | PMID:28959563 | aflatoxin B1 | increases expression | ISO | RGD:1318196 | 6480464 | Aflatoxin B1 results in increased expression of TOR1B mRNA | CTD | PMID:19770486 | all-trans-retinoic acid | increases expression | EXP | | 6480464 | Tretinoin results in increased expression of TOR1B mRNA | CTD | PMID:15498508 | atrazine | decreases expression | EXP | | 6480464 | Atrazine results in decreased expression of TOR1B mRNA | CTD | PMID:22378314 | benzene | increases expression | EXP | | 6480464 | Benzene results in increased expression of TOR1B mRNA | CTD | PMID:19162166 | benzo[a]pyrene | multiple interactions | ISO | RGD:1318196 | 6480464 | [Potassium Dichromate co-treated with potassium chromate(VI)] inhibits the reaction [Benzo(a)pyrene results in increased expression of TOR1B mRNA] | CTD | PMID:14625279 | benzo[a]pyrene | increases expression | ISO | RGD:1318196 | 6480464 | Benzo(a)pyrene results in increased expression of TOR1B mRNA | CTD | PMID:14625279 more ... | bis(2-ethylhexyl) phthalate | increases expression | ISO | RGD:1318196 | 6480464 | Diethylhexyl Phthalate results in increased expression of TOR1B mRNA | CTD | PMID:21318169 | bisphenol A | increases expression | ISO | RGD:1308431 | 6480464 | bisphenol A results in increased expression of TOR1B mRNA | CTD | PMID:27178563 | bisphenol A | affects expression | ISO | RGD:1308431 | 6480464 | bisphenol A affects the expression of TOR1B mRNA | CTD | PMID:25181051 | bisphenol A | multiple interactions | ISO | RGD:1308431 | 6480464 | [bisphenol A co-treated with Testosterone] results in increased expression of TOR1B mRNA | CTD | PMID:26496021 | cadmium dichloride | decreases expression | ISO | RGD:1308431 | 6480464 | Cadmium Chloride results in decreased expression of TOR1B mRNA | CTD | PMID:25993096 | carbon nanotube | increases expression | ISO | RGD:1318196 | 6480464 | Nanotubes, Carbon analog results in increased expression of TOR1B mRNA | CTD | PMID:25620056 | cyproconazole | increases expression | ISO | RGD:1318196 | 6480464 | cyproconazole results in increased expression of TOR1B mRNA | CTD | PMID:22334560 | decabromodiphenyl ether | increases expression | ISO | RGD:1308431 | 6480464 | decabromobiphenyl ether results in increased expression of TOR1B mRNA | CTD | PMID:23640034 | epoxiconazole | increases expression | ISO | RGD:1318196 | 6480464 | epoxiconazole results in increased expression of TOR1B mRNA | CTD | PMID:22334560 | fenofibrate | increases expression | ISO | RGD:1318196 | 6480464 | Fenofibrate results in increased expression of TOR1B mRNA | CTD | PMID:21318169 | fenofibrate | multiple interactions | ISO | RGD:1318196 | 6480464 | PPARA protein affects the reaction [Fenofibrate results in increased expression of TOR1B mRNA] | CTD | PMID:21318169 | flutamide | increases expression | ISO | RGD:1308431 | 6480464 | Flutamide results in increased expression of TOR1B mRNA | CTD | PMID:24136188 | N-methyl-N-nitrosourea | decreases expression | ISO | RGD:1318196 | 6480464 | Methylnitrosourea results in decreased expression of TOR1B mRNA | CTD | PMID:25270620 | nickel atom | decreases expression | EXP | | 6480464 | Nickel results in decreased expression of TOR1B mRNA | CTD | PMID:23195993 | paracetamol | affects expression | ISO | RGD:1318196 | 6480464 | Acetaminophen affects the expression of TOR1B mRNA | CTD | PMID:17562736 | paracetamol | increases expression | EXP | | 6480464 | Acetaminophen results in increased expression of TOR1B mRNA | CTD | PMID:22230336 | pirinixic acid | multiple interactions | ISO | RGD:1318196 | 6480464 | PPARA protein affects the reaction [pirinixic acid results in increased expression of TOR1B mRNA] | CTD | PMID:21318169 | pirinixic acid | increases expression | ISO | RGD:1318196 | 6480464 | pirinixic acid results in increased expression of TOR1B mRNA | CTD | PMID:18301758, PMID:21318169 | potassium chromate | multiple interactions | ISO | RGD:1318196 | 6480464 | [Potassium Dichromate co-treated with potassium chromate(VI)] inhibits the reaction [Benzo(a)pyrene results in increased expression of TOR1B mRNA] | CTD | PMID:14625279 | potassium dichromate | multiple interactions | ISO | RGD:1318196 | 6480464 | [Potassium Dichromate co-treated with potassium chromate(VI)] inhibits the reaction [Benzo(a)pyrene results in increased expression of TOR1B mRNA] | CTD | PMID:14625279 | propiconazole | increases expression | ISO | RGD:1318196 | 6480464 | propiconazole results in increased expression of TOR1B mRNA | CTD | PMID:21278054, PMID:22334560 | rac-lactic acid | decreases expression | EXP | | 6480464 | Lactic Acid results in decreased expression of TOR1B mRNA | CTD | PMID:30851411 | resveratrol | increases expression | ISO | RGD:1318196 | 6480464 | resveratrol results in increased expression of TOR1B protein | CTD | PMID:25505154 | sodium arsenate | decreases expression | ISO | RGD:1318196 | 6480464 | sodium arsenate results in decreased expression of TOR1B mRNA | CTD | PMID:21795629 | sodium arsenite | increases expression | ISO | RGD:1318196 | 6480464 | sodium arsenite results in increased expression of TOR1B protein | CTD | PMID:29044176 | sodium fluoride | decreases expression | ISO | RGD:1318196 | 6480464 | Sodium Fluoride results in decreased expression of TOR1B mRNA | CTD | PMID:27862939 | tamibarotene | increases expression | EXP | | 6480464 | tamibarotene results in increased expression of TOR1B mRNA | CTD | PMID:15498508 | testosterone | multiple interactions | ISO | RGD:1308431 | 6480464 | [bisphenol A co-treated with Testosterone] results in increased expression of TOR1B mRNA | CTD | PMID:26496021 | tetrachloromethane | increases expression | ISO | RGD:1318196 | 6480464 | Carbon Tetrachloride results in increased expression of TOR1B mRNA | CTD | PMID:27339419 | trichloroethene | increases methylation | ISO | RGD:1308431 | 6480464 | Trichloroethylene results in increased methylation of TOR1B gene | CTD | PMID:27618143 | urethane | increases expression | EXP | | 6480464 | Urethane results in increased expression of TOR1B mRNA | CTD | PMID:28818685 | valproic acid | affects expression | EXP | | 6480464 | Valproic Acid affects the expression of TOR1B mRNA | CTD | PMID:25979313 | valproic acid | increases expression | EXP | | 6480464 | Valproic Acid results in increased expression of TOR1B mRNA | CTD | PMID:28001369 | zinc atom | multiple interactions | EXP | | 6480464 | [PCI 5002 co-treated with Zinc] results in increased expression of TOR1B mRNA | CTD | PMID:18593933 | zinc(0) | multiple interactions | EXP | | 6480464 | [PCI 5002 co-treated with Zinc] results in increased expression of TOR1B mRNA | CTD | PMID:18593933 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 9288096 10553994 10644435 11405807 12477932 15146197 15147511 15164053 15342556 15489334 16938275 17130424 19199708 20000738 20015956 20669276 21873635 22268729 23569223 24275647 26186194 26496610 28514442 |
TOR1B (Homo sapiens - human) |
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Tor1b (Mus musculus - house mouse) |
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Tor1b (Rattus norvegicus - Norway rat) |
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Tor1b (Chinchilla lanigera - long-tailed chinchilla) |
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TOR1B (Pan paniscus - bonobo/pygmy chimpanzee) |
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TOR1B (Canis lupus familiaris - dog) |
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Tor1b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TOR1B (Sus scrofa - pig) |
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SGC31170 |
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SGC31770 |
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D9S983E |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_001317893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001317894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_014506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_133948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_134113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005251927 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001746273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF007872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF317129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI568476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL158207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC006480 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE315222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP366330 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU633792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN262366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY036797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001317893 ⟹ NP_001304822 | ||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
AGGAAGTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGhide sequence |
RefSeq Acc Id: | NM_001317894 ⟹ NP_001304823 | ||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
AGGAAGTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGhide sequence |
RefSeq Acc Id: | NM_014506 ⟹ NP_055321 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
AGGAAGTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGhide sequence |
RefSeq Acc Id: | NR_133948 | ||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||
Type: | NON-CODING | ||||||||||||||
Position: |
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Sequence: |
AGGAAGTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGhide sequence |
RefSeq Acc Id: | NR_134027 | ||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||
Type: | NON-CODING | ||||||||||||||
Position: |
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Sequence: |
AGGAAGTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGhide sequence |
RefSeq Acc Id: | NR_134113 | ||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||
Type: | NON-CODING | ||||||||||||||
Position: |
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Sequence: |
AGGAAGTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGhide sequence |
RefSeq Acc Id: | XM_005251927 ⟹ XP_005251984 | ||||||||||||||
RefSeq Status: | |||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
GTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGAGCGGhide sequence |
RefSeq Acc Id: | XR_001746273 | |||||||||
RefSeq Status: | ||||||||||
Type: | NON-CODING | |||||||||
Position: |
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Sequence: |
AGGAAGTCCGTCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGhide sequence |
Protein RefSeqs | NP_001304822 | (Get FASTA) | NCBI Sequence Viewer |
NP_001304823 | (Get FASTA) | NCBI Sequence Viewer | |
NP_055321 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005251984 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC51733 | (Get FASTA) | NCBI Sequence Viewer |
AAG50271 | (Get FASTA) | NCBI Sequence Viewer | |
AAH06480 | (Get FASTA) | NCBI Sequence Viewer | |
AAH15578 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87906 | (Get FASTA) | NCBI Sequence Viewer | |
O14657 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055321 ⟸ NM_014506 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | O14657 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYLSYNDIYCRFAECCREERPLNhide sequence |
RefSeq Acc Id: | XP_005251984 ⟸ XM_005251927 |
- Peptide Label: | isoform X1 |
- Sequence: |
MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYLSYNDIYCRFAECCREERPLNhide sequence |
RefSeq Acc Id: | NP_001304822 ⟸ NM_001317893 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | O14657 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYLSYNDIYCRFAECCREERPLNhide sequence |
RefSeq Acc Id: | NP_001304823 ⟸ NM_001317894 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | O14657 (UniProtKB/Swiss-Prot) |
- Sequence: |
MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYLSYNDIYCRFAECCREERPLNhide sequence |
RGD ID: | 7216383 | |||||||||
Promoter ID: | EPDNEW_H13937 | |||||||||
Type: | initiation region | |||||||||
Name: | TOR1B_1 | |||||||||
Description: | torsin family 1 member B | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 6807538 | |||||||||
Promoter ID: | HG_KWN:65266 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | ENST00000359824, NM_014506, OTTHUMT00000054616, OTTHUMT00000054617 | |||||||||
Position: |
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RGD ID: | 6808314 | |||||||||
Promoter ID: | HG_KWN:65267 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, Lymphoblastoid | |||||||||
Transcripts: | OTTHUMT00000054618 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 | copy number loss | Global developmental delay [RCV000052934]|See cases [RCV000052934] | Chr9:127874581..130421811 [GRCh38] Chr9:130636860..133297198 [GRCh37] Chr9:129676681..132287019 [NCBI36] Chr9:9q34.11 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|See cases [RCV000053779] | Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 | copy number gain | Dandy-Walker syndrome [RCV000053777]|See cases [RCV000053777] | Chr9:127919476..130079974 [GRCh38] Chr9:130681755..132842253 [GRCh37] Chr9:129721576..131882074 [NCBI36] Chr9:9q34.11 |
pathogenic |
GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3 | copy number gain | Macrotia [RCV000053778]|See cases [RCV000053778] | Chr9:129036400..130578683 [GRCh38] Chr9:131798679..133454070 [GRCh37] Chr9:130838500..132443891 [NCBI36] Chr9:9q34.11 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3 | copy number gain | See cases [RCV000137775] | Chr9:128839676..130912873 [GRCh38] Chr9:131601955..133788260 [GRCh37] Chr9:130641776..132778081 [NCBI36] Chr9:9q34.11-34.12 |
uncertain significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11(chr9:129311649-129866376)x3 | copy number gain | See cases [RCV000138277] | Chr9:129311649..129866376 [GRCh38] Chr9:132073928..132628655 [GRCh37] Chr9:131113749..131668476 [NCBI36] Chr9:9q34.11 |
likely benign |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 | copy number loss | See cases [RCV000445837] | Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
GRCh37/hg19 9q34.11(chr9:132483021-132581179)x3 | copy number gain | See cases [RCV000448150] | Chr9:132483021..132581179 [GRCh37] Chr9:9q34.11 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 | copy number loss | not provided [RCV000748671] | Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12 |
pathogenic |
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 | copy number loss | not provided [RCV000748699] | Chr9:131413885..133866894 [GRCh37] Chr9:9q34.11-34.12 |
benign |
GRCh37/hg19 9q34.11(chr9:132511956-132701805)x3 | copy number gain | not provided [RCV000748710] | Chr9:132511956..132701805 [GRCh37] Chr9:9q34.11 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) | copy number loss | not provided [RCV000767561] | Chr9:131670024..134514071 [GRCh37] Chr9:9q34.11-34.13 |
likely pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3 | copy number gain | not provided [RCV000848121] | Chr9:132183626..133431092 [GRCh37] Chr9:9q34.11 |
uncertain significance |
GRCh37/hg19 9q34.11(chr9:132449921-132793004)x3 | copy number gain | not provided [RCV000846222] | Chr9:132449921..132793004 [GRCh37] Chr9:9q34.11 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11995 | AgrOrtholog |
COSMIC | TOR1B | COSMIC |
Ensembl Genes | ENSG00000136816 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000259339 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000411912 | ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000259339 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000427860 | ENTREZGENE, UniProtKB/TrEMBL | |
GTEx | ENSG00000136816 | GTEx |
HGNC ID | HGNC:11995 | ENTREZGENE |
Human Proteome Map | TOR1B | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot |
Torsin | UniProtKB/Swiss-Prot | |
Torsin-1B | UniProtKB/Swiss-Prot | |
Torsin_1/2 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:27348 | UniProtKB/Swiss-Prot |
NCBI Gene | 27348 | ENTREZGENE |
OMIM | 608050 | OMIM |
PANTHER | PTHR10760 | UniProtKB/Swiss-Prot |
PTHR10760:SF14 | UniProtKB/Swiss-Prot | |
Pfam | Torsin | UniProtKB/Swiss-Prot |
PharmGKB | PA36676 | PharmGKB |
PIRSF | Torsin_2A | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot |
UniGene | Hs.252682 | ENTREZGENE |
UniProt | H0Y7C8_HUMAN | UniProtKB/TrEMBL |
O14657 | ENTREZGENE | |
Q9BR69_HUMAN | UniProtKB/TrEMBL | |
TOR1B_HUMAN | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-02 | TOR1B | torsin family 1 member B | torsin family 1, member B (torsin B) | Symbol and/or name change | 5135510 | APPROVED |
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More on TOR1B | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1318195 |
Created: | 2005-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.