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![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 2,2',4,4',5,5'-hexachlorobiphenyl | multiple interactions | ISO | RGD:1616549 | 6480464 | [2 more ... | CTD | PMID:25510870 | 2,2',5,5'-tetrachlorobiphenyl | multiple interactions | ISO | RGD:1616549 | 6480464 | [2 more ... | CTD | PMID:25510870 | 2,3,7,8-tetrachlorodibenzodioxine | affects expression | ISO | RGD:1616549 | 6480464 | Tetrachlorodibenzodioxin affects the expression of GBX1 mRNA | CTD | PMID:24058054 | aflatoxin B1 | decreases methylation | EXP | | 6480464 | Aflatoxin B1 results in decreased methylation of GBX1 gene | CTD | PMID:27153756 | bisphenol A | multiple interactions | ISO | RGD:621864 | 6480464 | [bisphenol A co-treated with Testosterone] results in increased expression of GBX1 mRNA | CTD | PMID:26496021 | bisphenol A | affects methylation | ISO | RGD:1616549 | 6480464 | bisphenol A affects the methylation of GBX1 promoter | CTD | PMID:27334623 | bisphenol A | decreases expression | ISO | RGD:621864 | 6480464 | bisphenol A results in decreased expression of GBX1 mRNA | CTD | PMID:25181051 | glyphosate | increases methylation | ISO | RGD:621864 | 6480464 | glyphosate results in increased methylation of GBX1 gene | CTD | PMID:31011160 | testosterone | multiple interactions | ISO | RGD:621864 | 6480464 | [bisphenol A co-treated with Testosterone] results in increased expression of GBX1 mRNA | CTD | PMID:26496021 | triclosan | decreases expression | EXP | | 6480464 | Triclosan results in decreased expression of GBX1 mRNA | CTD | PMID:30510588 | valproic acid | increases methylation | EXP | | 6480464 | Valproic Acid results in increased methylation of GBX1 gene | CTD | PMID:29154799 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
GBX1 (Homo sapiens - human) |
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Gbx1 (Mus musculus - house mouse) |
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Gbx1 (Rattus norvegicus - Norway rat) |
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Gbx1 (Chinchilla lanigera - long-tailed chinchilla) |
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GBX1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GBX1 (Canis lupus familiaris - dog) |
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Gbx1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GBX1 (Sus scrofa - pig) |
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GDB:1318236 |
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RH121168 |
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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_001098834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC010973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
L11239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X59519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001098834 ⟹ NP_001092304 | |||||||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
ATGCAGCGGGCCGGAGGCGGTAGCGCCCCTGGGGGCAACGGCGGGGGCGGCGGCGGGGGCCCGGhide sequence |
Protein RefSeqs | NP_001092304 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA36002 | (Get FASTA) | NCBI Sequence Viewer |
Q14549 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001092304 ⟸ NM_001098834 |
- UniProtKB: | Q14549 (UniProtKB/Swiss-Prot) |
- Sequence: |
MQRAGGGSAPGGNGGGGGGGPGTAFSIDSLIGPPPPRSGHLLYTGYPMFMPYRPLVLPQALAPAhide sequence |
RGD ID: | 7212361 | |||||||||
Promoter ID: | EPDNEW_H11927 | |||||||||
Type: | initiation region | |||||||||
Name: | GBX1_1 | |||||||||
Description: | gastrulation brain homeobox 1 | |||||||||
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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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 | copy number gain | Cleft palate, isolated [RCV000050876]|See cases [RCV000050876] | Chr7:129310166..159282390 [GRCh38] Chr7:128950007..159075079 [GRCh37] Chr7:128737243..158767840 [NCBI36] Chr7:7q32.1-36.3 |
pathogenic |
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 | copy number loss | Seizure [RCV000050552]|See cases [RCV000050552] | Chr7:150319864..152674271 [GRCh38] Chr7:150016953..152371356 [GRCh37] Chr7:149647886..152002289 [NCBI36] Chr7:7q36.1 |
pathogenic |
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050750]|See cases [RCV000050750] | Chr7:143884559..152674271 [GRCh38] Chr7:143581652..152371356 [GRCh37] Chr7:143212585..152002289 [NCBI36] Chr7:7q35-36.1 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051101]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051101]|See cases [RCV000051101] | Chr7:132850196..159325876 [GRCh38] Chr7:132534956..159118566 [GRCh37] Chr7:132185496..158811327 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 | copy number loss | Abnormality of the kidney [RCV000051108]|See cases [RCV000051108] | Chr7:147250465..159325876 [GRCh38] Chr7:146947557..159118566 [GRCh37] Chr7:146578490..158811327 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 | copy number gain | Global developmental delay [RCV000053576]|See cases [RCV000053576] | Chr7:136309982..159307523 [GRCh38] Chr7:135994730..159100212 [GRCh37] Chr7:135645270..158792973 [NCBI36] Chr7:7q33-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] | Chr7:142021716..159325876 [GRCh38] Chr7:142528609..159118566 [GRCh37] Chr7:141367985..158811327 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054178]|See cases [RCV000054178] | Chr7:143884559..159282390 [GRCh38] Chr7:143581652..159075079 [GRCh37] Chr7:143212585..158767840 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054188]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054188]|See cases [RCV000054188] | Chr7:145699944..159296617 [GRCh38] Chr7:145397037..159089306 [GRCh37] Chr7:145027970..158782067 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 | copy number loss | Attention deficit-hyperactivity disorder [RCV000054189]|See cases [RCV000054189] | Chr7:148256584..152332535 [GRCh38] Chr7:147953676..152029620 [GRCh37] Chr7:147584609..151660553 [NCBI36] Chr7:7q36.1 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] | Chr7:139365967..159282531 [GRCh38] Chr7:139050713..159075220 [GRCh37] Chr7:138701253..158767981 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 | copy number loss | Corpus callosum agenesis [RCV000054176]|See cases [RCV000054176] | Chr7:140754198..159307523 [GRCh38] Chr7:140453998..159100212 [GRCh37] Chr7:140100467..158792973 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054177]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054177]|See cases [RCV000054177] | Chr7:142358524..159282531 [GRCh38] Chr7:142528609..159075220 [GRCh37] Chr7:141726947..158767981 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
NM_001098834.2(GBX1):c.835G>A (p.Glu279Lys) | single nucleotide variant | Malignant melanoma [RCV000067779] | Chr7:151148846 [GRCh38] Chr7:150845933 [GRCh37] Chr7:150476866 [NCBI36] Chr7:7q36.1 |
not provided |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 | copy number gain | See cases [RCV000135825] | Chr7:147345844..153833351 [GRCh38] Chr7:147042936..153530436 [GRCh37] Chr7:146673869..153161369 [NCBI36] Chr7:7q35-36.2 |
pathogenic |
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 | copy number gain | See cases [RCV000136592] | Chr7:137751200..154815582 [GRCh38] Chr7:137435946..154607292 [GRCh37] Chr7:137086486..154238225 [NCBI36] Chr7:7q33-36.2 |
pathogenic |
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 | copy number loss | See cases [RCV000136089] | Chr7:150486071..159335865 [GRCh38] Chr7:150183159..159128555 [GRCh37] Chr7:149814092..158821316 [NCBI36] Chr7:7q36.1-36.3 |
pathogenic |
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 | copy number gain | See cases [RCV000136717] | Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3 |
pathogenic |
GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 | copy number gain | See cases [RCV000136683] | Chr7:151104277..159325876 [GRCh38] Chr7:150801364..159118566 [GRCh37] Chr7:150432297..158811327 [NCBI36] Chr7:7q36.1-36.3 |
pathogenic |
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 | copy number loss | See cases [RCV000137465] | Chr7:150802801..159335866 [GRCh38] Chr7:150499889..159128556 [GRCh37] Chr7:150130822..158821317 [NCBI36] Chr7:7q36.1-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 | copy number loss | See cases [RCV000137256] | Chr7:141960861..159335866 [GRCh38] Chr7:142528609..159128556 [GRCh37] Chr7:141307130..158821317 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 | copy number loss | See cases [RCV000137338] | Chr7:145436544..159331441 [GRCh38] Chr7:145133637..159124131 [GRCh37] Chr7:144764570..158816892 [NCBI36] Chr7:7q35-36.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 | copy number loss | See cases [RCV000138005] | Chr7:145250254..159335866 [GRCh38] Chr7:144947347..159128556 [GRCh37] Chr7:144578280..158821317 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 | copy number loss | See cases [RCV000138120] | Chr7:134666829..158591882 [GRCh38] Chr7:134351581..158384574 [GRCh37] Chr7:134002121..158077335 [NCBI36] Chr7:7q33-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 | copy number loss | See cases [RCV000137781] | Chr7:146047157..157522158 [GRCh38] Chr7:145744250..157314852 [GRCh37] Chr7:145375183..157007613 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 | copy number gain | See cases [RCV000138847] | Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3 |
pathogenic |
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 | copy number gain | See cases [RCV000138566] | Chr7:150113232..154162779 [GRCh38] Chr7:149810321..153859864 [GRCh37] Chr7:149441254..153490797 [NCBI36] Chr7:7q36.1-36.2 |
likely pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 | copy number gain | See cases [RCV000139654] | Chr7:132444095..159335866 [GRCh38] Chr7:132128854..159128556 [GRCh37] Chr7:131779394..158821317 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 | copy number gain | See cases [RCV000139660] | Chr7:150275734..153342804 [GRCh38] Chr7:149972823..153039889 [GRCh37] Chr7:149603756..152670822 [NCBI36] Chr7:7q36.1-36.2 |
uncertain significance |
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 | copy number gain | See cases [RCV000141413] | Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3 |
pathogenic |
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 | copy number loss | See cases [RCV000142592] | Chr7:150260297..159325876 [GRCh38] Chr7:149957386..159118566 [GRCh37] Chr7:149588319..158811327 [NCBI36] Chr7:7q36.1-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 | copy number gain | See cases [RCV000142802] | Chr7:131228764..159335866 [GRCh38] Chr7:130913523..159128556 [GRCh37] Chr7:130564063..158821317 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 | copy number gain | See cases [RCV000143754] | Chr7:131171478..159327017 [GRCh38] Chr7:130856237..159119707 [GRCh37] Chr7:130506777..158812468 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 | copy number gain | See cases [RCV000143707] | Chr7:132438072..159327017 [GRCh38] Chr7:132122831..159119707 [GRCh37] Chr7:131773371..158812468 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 | copy number loss | See cases [RCV000143503] | Chr7:147144002..159327017 [GRCh38] Chr7:146841094..159119707 [GRCh37] Chr7:146472027..158812468 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 | copy number gain | See cases [RCV000449264] | Chr7:137589621..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
Single allele | copy number loss | Abnormality of esophagus morphology [RCV000416719]|Abnormality of the esophagus [RCV000416719] | Chr7:143839360..159138663 [GRCh37] | pathogenic |
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 | copy number loss | See cases [RCV000448836] | Chr7:133799185..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 | copy number gain | See cases [RCV000447709] | Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 | copy number gain | See cases [RCV000447776] | Chr7:149261179..159075020 [GRCh37] Chr7:7q36.1-36.3 |
pathogenic |
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 | copy number gain | See cases [RCV000447956] | Chr7:128276078..159119707 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 | copy number loss | See cases [RCV000510250] | Chr7:140636858..159119707 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 | copy number gain | See cases [RCV000510490] | Chr7:136758593..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 | copy number gain | See cases [RCV000511618] | Chr7:148189771..150867270 [GRCh37] Chr7:7q36.1 |
uncertain significance |
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 | copy number loss | See cases [RCV000511889] | Chr7:137917376..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 | copy number gain | See cases [RCV000510762] | Chr7:150553743..159119707 [GRCh37] Chr7:7q36.1-36.3 |
likely pathogenic |
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) | copy number gain | not provided [RCV000767558] | Chr7:128312450..159119220 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
NC_000007.13:g.(?_150642433)_(151573725_?)del | deletion | Long QT syndrome [RCV000631876] | Chr7:150642433..151573725 [GRCh37] Chr7:7q36.1 |
pathogenic |
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 | copy number gain | not provided [RCV000682911] | Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 | copy number loss | not provided [RCV000682910] | Chr7:140133025..158982771 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 | copy number gain | not provided [RCV000747070] | Chr7:139623170..158329903 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 | copy number loss | not provided [RCV000747083] | Chr7:141938235..159126310 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 | copy number gain | not provided [RCV000747094] | Chr7:143711059..152573935 [GRCh37] Chr7:7q35-36.1 |
benign |
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 | copy number loss | not provided [RCV000747115] | Chr7:148238976..159126310 [GRCh37] Chr7:7q36.1-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3 | copy number gain | not provided [RCV000847582] | Chr7:149968222..152539376 [GRCh37] Chr7:7q36.1 |
uncertain significance |
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 | copy number gain | not provided [RCV000849569] | Chr7:130592554..159119707 [GRCh37] Chr7:7q32.3-36.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4185 | AgrOrtholog |
COSMIC | GBX1 | COSMIC |
Ensembl Genes | ENSG00000164900 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000297537 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000297537 | ENTREZGENE, UniProtKB/Swiss-Prot |
GTEx | ENSG00000164900 | GTEx |
HGNC ID | HGNC:4185 | ENTREZGENE |
Human Proteome Map | GBX1 | Human Proteome Map |
InterPro | GBX-1 | UniProtKB/Swiss-Prot |
GBX-1/2 | UniProtKB/Swiss-Prot | |
Homeobox-like_sf | UniProtKB/Swiss-Prot | |
Homeobox_CS | UniProtKB/Swiss-Prot | |
Homeobox_dom | UniProtKB/Swiss-Prot | |
Homeobox_metazoa | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:2636 | UniProtKB/Swiss-Prot |
NCBI Gene | 2636 | ENTREZGENE |
OMIM | 603354 | OMIM |
PANTHER | PTHR24334 | UniProtKB/Swiss-Prot |
PTHR24334:SF2 | UniProtKB/Swiss-Prot | |
Pfam | Homeodomain | UniProtKB/Swiss-Prot |
PharmGKB | PA28599 | PharmGKB |
PRINTS | HOMEOBOX | UniProtKB/Swiss-Prot |
PROSITE | HOMEOBOX_1 | UniProtKB/Swiss-Prot |
HOMEOBOX_2 | UniProtKB/Swiss-Prot | |
SMART | HOX | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF46689 | UniProtKB/Swiss-Prot |
UniProt | GBX1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
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More on GBX1 | |
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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: | 1352199 |
Created: | 2005-03-08 |
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.