Imported Annotations - ClinVar | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aicardi-Goutieres syndrome | ISO | RGD:732354 | 8554872 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar |




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Imported Annotations - ClinVar | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aicardi-Goutieres syndrome | ISO | RGD:732354 | 8554872 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar |
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1. | Beckerman R and Prives C, Cold Spring Harb Perspect Biol. 2010 Aug;2(8):a000935. doi: 10.1101/cshperspect.a000935. Epub 2010 Apr 28. |
2. | Bhatti S, etal., Cell Mol Life Sci. 2011 Sep;68(18):2977-3006. doi: 10.1007/s00018-011-0683-9. Epub 2011 May 2. |
3. | Carlson ES, etal., Brain Res. 2008 Aug 7. |
4. | Coffey K, etal., PLoS One. 2012;7(10):e45539. doi: 10.1371/journal.pone.0045539. Epub 2012 Oct 8. |
5. | Gorrini C, etal., Nature. 2007 Aug 30;448(7157):1063-7. |
6. | Kruse JP and Gu W, Cell. 2009 May 15;137(4):609-22. doi: 10.1016/j.cell.2009.04.050. |
7. | MGD data from the GO Consortium |
8. | Patani N, etal., Anticancer Res. 2011 Dec;31(12):4115-25. |
9. | Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5. |
10. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
11. | RGD automated import pipeline |
12. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
13. | RGD automated import pipeline for gene-chemical interactions |
14. | Stracker TH, etal., Front Genet. 2013 Mar 25;4:37. doi: 10.3389/fgene.2013.00037. eCollection 2013. |
15. | Watanabe S and Peterson CL, Cold Spring Harb Symp Quant Biol. 2010;75:35-42. doi: 10.1101/sqb.2010.75.063. Epub 2011 Apr 18. |
PubMed | 8889548 10349636 11042159 11076861 11111051 11217851 12036595 12464179 12466851 12477932 12801643 14610273 14681479 14687547 15065000 15782199 15944124 15985650 16141072 16141073 16597624 16678094 17015433 17110330 17255939 17368826 17517537 17636029 17980166 18022353 18096664 18390577 18414493 18614019 19176879 19282473 19362146 19842187 19909775 20059953 20159953 20211142 21267068 21427130 21540835 21658600 21677750 21858214 21873635 21936881 22348108 22354990 22539723 22579476 22586264 22766506 23754744 23810942 23995786 24141283 24287617 24302573 24621507 24835996 24853677 24870614 26291311 26700317 26915295 28445719 28694333 29184203 29765047 30297459 30297694 30559296 30655546 30704899 31294688 |
Kat5 (Mus musculus - house mouse) |
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KAT5 (Homo sapiens - human) |
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Kat5 (Rattus norvegicus - Norway rat) |
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Kat5 (Chinchilla lanigera - long-tailed chinchilla) |
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KAT5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KAT5 (Canis lupus familiaris - dog) |
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Kat5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KAT5 (Sus scrofa - pig) |
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AI839539 |
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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. |
RefSeq Transcripts | NM_001199247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001199248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001199249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001362370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001362371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001362372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_178637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_155544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006531860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB055409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC126029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF528194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF528195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF528196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK133843 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK143674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK146352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK159568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK160077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK177994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK187951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK195015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK205910 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK206382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK219598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK219943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY061983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC129967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC129968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY269987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA317697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466612 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ080877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ139980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DV648619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001199247 ⟹ NP_001186176 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
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Sequence: |
AGCGCACTCAGCTCCGGAAGTGACGTCTCCCAGAGGGGCCGGAAGTGGCAGTGGAGGGAGGGAAhide sequence |
RefSeq Acc Id: | NM_001199248 ⟹ NP_001186177 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
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Sequence: |
AGCGCACTCAGCTCCGGAAGTGACGTCTCCCAGAGGGGCCGGAAGTGGCAGTGGAGGGAGGGAAhide sequence |
RefSeq Acc Id: | NM_001199249 ⟹ NP_001186178 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | CODING | |||||||||||||||||||
Position: |
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Sequence: |
AGCGCACTCAGCTCCGGAAGTGACGTCTCCCAGAGGGGCCGGAAGTGGCAGTGGAGGGAGGGAAhide sequence |
RefSeq Acc Id: | NM_001362370 ⟹ NP_001349299 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_001362371 ⟹ NP_001349300 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_001362372 ⟹ NP_001349301 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_178637 ⟹ NP_848752 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
AGCGCACTCAGCTCCGGAAGTGACGTCTCCCAGAGGGGCCGGAAGTGGCAGTGGAGGGAGGGAAhide sequence |
RefSeq Acc Id: | NR_155544 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | NON-CODING | |||||||||
Position: |
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RefSeq Acc Id: | XM_006531860 ⟹ XP_006531923 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
TTCCATCTAGTACTTGGCCTCAGGTTTACAACGTCCTGCTCTTCCATTCCCCAAACGGGCCGGChide sequence |
Protein RefSeqs | NP_001186176 | (Get FASTA) | NCBI Sequence Viewer |
NP_001186177 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001186178 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001349299 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001349300 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001349301 | (Get FASTA) | NCBI Sequence Viewer | |
NP_848752 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006531923 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI10676 | (Get FASTA) | NCBI Sequence Viewer |
AAI29968 | (Get FASTA) | NCBI Sequence Viewer | |
AAI29969 | (Get FASTA) | NCBI Sequence Viewer | |
AAL34981 | (Get FASTA) | NCBI Sequence Viewer | |
AAN77140 | (Get FASTA) | NCBI Sequence Viewer | |
AAN77141 | (Get FASTA) | NCBI Sequence Viewer | |
AAN77142 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ67923 | (Get FASTA) | NCBI Sequence Viewer | |
BAC53807 | (Get FASTA) | NCBI Sequence Viewer | |
BAE27104 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33153 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33154 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33155 | (Get FASTA) | NCBI Sequence Viewer | |
EDL33156 | (Get FASTA) | NCBI Sequence Viewer | |
Q8CHK4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_848752 ⟸ NM_178637 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8CHK4 (UniProtKB/Swiss-Prot), Q3UJQ1 (UniProtKB/TrEMBL) |
- Sequence: |
MAEVGEIIEGCRLPVLRRNQDNEDEWPLAEILSVKDISGRKLFYVHYIDFNKRLDEWVTHERLDhide sequence |
RefSeq Acc Id: | NP_001186176 ⟸ NM_001199247 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8CHK4 (UniProtKB/Swiss-Prot) |
- Sequence: |
MAEVGEIIEGCRLPVLRRNQDNEDEWPLAEILSVKDISGRKLFYVHYIDFNKRLDEWVTHERLDhide sequence |
RefSeq Acc Id: | NP_001186177 ⟸ NM_001199248 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q8CHK4 (UniProtKB/Swiss-Prot) |
- Sequence: |
MAEVVSPVPGAGRREPGEVGRARGPPVADPGAALSPQGEIIEGCRLPVLRRNQDNEDEWPLAEIhide sequence |
RefSeq Acc Id: | NP_001186178 ⟸ NM_001199249 |
- Peptide Label: | isoform 4 |
- Sequence: |
MAEVVSPVPGAGRREPGEVGRARGPPVADPGAALSPQGEIIEGCRLPVLRRNQDNEDEWPLAEIhide sequence |
RefSeq Acc Id: | XP_006531923 ⟸ XM_006531860 |
- Peptide Label: | isoform X1 |
- Sequence: |
MAEVGEIIEGCRLPVLRRNQDNEDEWPLAEILSVKDISGRKLFYVHYIDFNKRLDEWVTHERLDhide sequence |
RefSeq Acc Id: | NP_001349301 ⟸ NM_001362372 |
- Peptide Label: | isoform 6 |
RefSeq Acc Id: | NP_001349299 ⟸ NM_001362370 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001349300 ⟸ NM_001362371 |
- Peptide Label: | isoform 5 |
RGD ID: | 6847588 | |||||||||
Promoter ID: | MM_ACW:25857 | |||||||||
Type: | Non-CpG | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | 3T3L1_Day1, BoneMarrow_0Hour, Brain, Liver, Lung, Spleen | |||||||||
Transcripts: | HTATIP.MSEP07 | |||||||||
Position: |
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RGD ID: | 6830206 | |||||||||
Promoter ID: | MM_KWN:26096 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | |||||||||
Transcripts: | ENSMUST00000025865, ENSMUST00000099970, ENSMUST00000113640, ENSMUST00000113641, UC008GDY.1, UC008GEC.1, UC008GED.1 | |||||||||
Position: |
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RGD ID: | 13678552 | |||||||||
Promoter ID: | EPDNEW_M23425 | |||||||||
Type: | single initiation site | |||||||||
Name: | Kat5_1 | |||||||||
Description: | Mus musculus K acetyltransferase 5 , transcript variant 4, mRNA. | |||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | MGI:1932051 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000024926 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSMUSP00000109271 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUSP00000157522 | UniProtKB/TrEMBL | |
ENSMUSP00000157766 | UniProtKB/TrEMBL | |
ENSMUSP00000157904 | UniProtKB/TrEMBL | |
ENSMUSP00000157995 | UniProtKB/TrEMBL | |
ENSMUSP00000158181 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSMUSP00000158391 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSMUST00000113641 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUST00000235701 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSMUST00000235796 | UniProtKB/TrEMBL | |
ENSMUST00000236229 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSMUST00000236264 | UniProtKB/TrEMBL | |
ENSMUST00000236883 | ENTREZGENE, UniProtKB/TrEMBL | |
ENSMUST00000237072 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot |
InterPro | Acyl_CoA_acyltransferase | UniProtKB/Swiss-Prot |
Chromo-like_dom_sf | UniProtKB/Swiss-Prot | |
Chromo/chromo_shadow_dom | UniProtKB/Swiss-Prot | |
Esa1/KAT5/Tip60 | UniProtKB/Swiss-Prot | |
HAT_MYST-type | UniProtKB/Swiss-Prot | |
Tudor-knot | UniProtKB/Swiss-Prot | |
WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot | |
Zf-MYST | UniProtKB/Swiss-Prot | |
KEGG Report | mmu:81601 | UniProtKB/Swiss-Prot |
MGD | MGI:1932051 | ENTREZGENE |
NCBI Gene | 81601 | ENTREZGENE |
PANTHER | PTHR10615:SF161 | UniProtKB/Swiss-Prot |
Pfam | MOZ_SAS | UniProtKB/Swiss-Prot |
Tudor-knot | UniProtKB/Swiss-Prot | |
zf-MYST | UniProtKB/Swiss-Prot | |
PhenoGen | Kat5 | PhenoGen |
PROSITE | MYST_HAT | UniProtKB/Swiss-Prot |
SMART | CHROMO | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF54160 | UniProtKB/Swiss-Prot |
SSF55729 | UniProtKB/Swiss-Prot | |
UniGene | Mm.228930 | ENTREZGENE |
UniProt | A0A494B979_MOUSE | UniProtKB/TrEMBL |
A0A494B9U8_MOUSE | UniProtKB/TrEMBL | |
A0A494BA68_MOUSE | UniProtKB/TrEMBL | |
A0A494BA96_MOUSE | UniProtKB/TrEMBL | |
A0A494BAP7_MOUSE | UniProtKB/TrEMBL | |
A2VDH4_MOUSE | UniProtKB/TrEMBL | |
KAT5_MOUSE | UniProtKB/Swiss-Prot | |
Q3UJQ1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3YFI9_MOUSE | UniProtKB/TrEMBL | |
Q8CHK4 | ENTREZGENE | |
UniProt Secondary | A1L394 | UniProtKB/Swiss-Prot |
Q8CGZ3 | UniProtKB/Swiss-Prot | |
Q8CGZ4 | UniProtKB/Swiss-Prot | |
Q8VIH0 | UniProtKB/Swiss-Prot |
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More on Kat5 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: mm9 mm10 |
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MGI Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1550306 |
Created: | 2005-09-30 |
Species: | Mus musculus |
Last Modified: | 2019-11-27 |
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.