![]()
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | megacolon | | ISO | RGD:737407 | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | |
|
![]()
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | megacolon | | ISO | RGD:737407 | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | |
|
|
|
|
|
|
|
|
|
|
|
|
|
1. | Chang TH, etal., Biochim Biophys Acta. 2013 Aug;1829(8):764-74. doi: 10.1016/j.bbagrm.2013.02.006. Epub 2013 Feb 21. |
2. | Cheong KY, etal., Hum Immunol. 2001 Dec;62(12):1363-70. |
3. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
4. | GOA data from the GO Consortium |
5. | Gohshi T, etal., J Biochem. 1999 May;125(5):939-46. |
6. | Helou K, etal., Hereditas 1999;130(2):105-9. |
7. | Katahira J Biochim Biophys Acta. 2012 Jun;1819(6):507-13. doi: 10.1016/j.bbagrm.2011.12.001. Epub 2011 Dec 8. |
8. | Kwak JO, etal., J Nephrol. 2005 Nov-Dec;18(6):681-9. |
9. | Lambracht-Washington D and Fischer Lindahl K, Immunogenetics 2002 Mar;53(12):1039-46. |
10. | MGD Curation, June 12, 2002 |
11. | MGD data from the GO Consortium |
12. | Nair S, etal., J Biol Chem 1992 Jun 25;267(18):12928-35. |
13. | Price P, etal., Hum Mol Genet. 2004 May 1;13(9):967-74. Epub 2004 Mar 17. |
14. | RGD automated data pipeline |
15. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
16. | RGD automated import pipeline for gene-chemical interactions |
17. | Sahni A, etal., Biochem Biophys Res Commun. 2010 Feb 26;393(1):106-10. doi: 10.1016/j.bbrc.2010.01.093. Epub 2010 Jan 29. |
18. | Sahni A, etal., Biochem Biophys Res Commun. 2012 Apr 13;420(3):511-5. doi: 10.1016/j.bbrc.2012.03.022. Epub 2012 Mar 13. |
19. | Sahni A, etal., Biochem Biophys Res Commun. 2013 Feb 15;431(3):636-40. doi: 10.1016/j.bbrc.2012.12.014. Epub 2012 Dec 12. |
20. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:14667819 | PMID:15047853 | PMID:15489334 | PMID:15833825 | PMID:15998806 | PMID:17190602 | PMID:17562711 | PMID:18593880 | PMID:18974867 | PMID:20844015 | PMID:21859714 | PMID:22082260 |
PMID:22144908 | PMID:22658674 | PMID:22681889 | PMID:25145264 |
Ddx39b (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDX39B (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ddx39b (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ddx39b (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDX39B (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDX39B (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ddx39b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDX39B (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDX39B (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ddx39b (Heterocephalus glaber - naked mole-rat) |
|
D20Yum47 |
|
||||||||||||||||||||||||||||||||||||||||
Bat1_microsatellite |
|
||||||||||||||||||||||||||||||||||||||||
RH144334 |
|
||||||||||||||||||||||||||||||||||||||||
RH126881 |
|
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 43 | 57 | 41 | 19 | 41 | 8 | 11 | 74 | 35 | 41 | 11 | 8 |
Low | |||||||||||||
Below cutoff |
RefSeq Transcripts | NM_133300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_039098378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005497163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005497165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_362030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF387339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ314857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC080243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX883046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DY309526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ212901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M75168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000001115 ⟹ ENSRNOP00000001115 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000077809 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000080174 ⟹ ENSRNOP00000075517 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000082233 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000087615 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000116798 ⟹ ENSRNOP00000093667 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_133300 ⟹ NP_579834 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_039098378 ⟹ XP_038954306 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_005497163 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_005497165 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_362030 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
Protein RefSeqs | NP_579834 | (Get FASTA) | NCBI Sequence Viewer |
XP_038954306 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA41787 | (Get FASTA) | NCBI Sequence Viewer |
AAH80243 | (Get FASTA) | NCBI Sequence Viewer | |
AAL98920 | (Get FASTA) | NCBI Sequence Viewer | |
CAC85694 | (Get FASTA) | NCBI Sequence Viewer | |
EDL83554 | (Get FASTA) | NCBI Sequence Viewer | |
EDL83555 | (Get FASTA) | NCBI Sequence Viewer | |
EDL83556 | (Get FASTA) | NCBI Sequence Viewer | |
Q63413 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_579834 ⟸ NM_133300 |
- UniProtKB: | Q63413 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000075517 ⟸ ENSRNOT00000080174 |
RefSeq Acc Id: | ENSRNOP00000001115 ⟸ ENSRNOT00000001115 |
RefSeq Acc Id: | XP_038954306 ⟸ XM_039098378 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | ENSRNOP00000093667 ⟸ ENSRNOT00000116798 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q63413-F1-model_v2 | AlphaFold | Q63413 | 1-428 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13701365 | ||||||||
Promoter ID: | EPDNEW_R11888 | ||||||||
Type: | initiation region | ||||||||
Name: | Ddx39b_1 | ||||||||
Description: | DExD-box helicase 39B | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
Chromosome | Start Pos | End Pos | Reference Nucleotide | Variant Nucleotide | Variant Type | Strain |
20 | 3611341 | 3611342 | C | T | snv | ACI/EurMcwi (MCW), COP/CrCrl (MCW & UW), FHH/EurMcwi (MCW) |
Database | Acc Id | Source(s) |
AGR Gene | RGD:70923 | AgrOrtholog |
BioCyc Gene | G2FUF-4670 | BioCyc |
Ensembl Genes | ENSRNOG00000000841 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000001115 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOP00000075517 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000001115 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOT00000080174 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:7100155 | IMAGE-MGC_LOAD |
InterPro | DEAD/DEAH_box_helicase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Helicase_ATP-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Helicase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RNA_helicase_DEAD_Q_motif | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:114612 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:91440 | IMAGE-MGC_LOAD |
NCBI Gene | 114612 | ENTREZGENE |
Pfam | DEAD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Helicase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Ddx39b | PhenoGen |
PROSITE | HELICASE_ATP_BIND_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HELICASE_CTER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Q_MOTIF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | DEXDc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HELICc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0G2KAT4_RAT | UniProtKB/TrEMBL |
DX39B_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | Q811A6 | UniProtKB/Swiss-Prot |
Q8R2G9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-10-05 | Ddx39b | DExD-box helicase 39B | Ddx39b | DEAD-box helicase 39B | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-01-13 | Ddx39b | DEAD-box helicase 39B | Ddx39b | DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2011-07-28 | Ddx39b | DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B | Bat1 | HLA-B associated transcript 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-09-25 | Bat1 | HLA-B associated transcript 1 | Bat1a | HLA-B-associated transcript 1A | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2003-04-09 | Bat1a | HLA-B-associated transcript 1A | Symbol and Name updated | 629477 | APPROVED | ||
2003-03-11 | Bat1a | HLA-B-associated transcript 1A | D20H6S81e | Nuclear RNA helicase | Data Merged | 628472 | PROVISIONAL |
2002-07-09 | Bat1a | HLA-B-associated transcript 1A | Symbol and Name updated to reflect Human and Mouse nomenclature | 70877 | APPROVED | ||
2002-06-10 | D20H6S81e | Nuclear RNA helicase | Symbol and Name status set to approved | 70586 | APPROVED |
Note Type | Note | Reference |
---|---|---|
gene_expression | mRNA expression in liver is cell cycle dependent and developmentally regulated | 632224 |
gene_other | the start of the MHC class I region downstrean of the rat Bat1a gene contains a sequence with similarity to intron 3 of the mouse H-2D gene but without the coding region | 632223 |