COQ8B (coenzyme Q8B) - Rat Genome Database

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Gene: COQ8B (coenzyme Q8B) Homo sapiens
Analyze
Symbol: COQ8B
Name: coenzyme Q8B
RGD ID: 1322771
HGNC Page HGNC
Description: Predicted to enable ATP hydrolysis activity; kinase activity; and lipid binding activity. Involved in cerebellar Purkinje cell layer morphogenesis and ubiquinone biosynthetic process. Located in mitochondrion. Implicated in nephrotic syndrome type 9.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: aarF domain containing kinase 4; aarF domain-containing protein kinase 4; ADCK4; atypical kinase COQ8B, mitochondrial; coenzyme Q protein 8B; FLJ12229; NPHS9; uncharacterized aarF domain-containing protein kinase 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381940,691,530 - 40,716,886 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1940,691,514 - 40,725,784 (-)EnsemblGRCh38hg38GRCh38
GRCh371941,197,435 - 41,222,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,889,274 - 45,914,440 (-)NCBINCBI36hg18NCBI36
Build 341945,889,273 - 45,914,440NCBI
Celera1937,997,846 - 38,023,215 (-)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1937,630,742 - 37,656,159 (-)NCBIHuRef
CHM1_11941,197,089 - 41,222,469 (-)NCBICHM1_1
T2T-CHM13v2.01943,512,196 - 43,537,578 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:12107410   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:20877624   PMID:21873635   PMID:22081228   PMID:23088713   PMID:24270420  
PMID:26186194   PMID:26496610   PMID:26760575   PMID:26972000   PMID:27499294   PMID:27499296   PMID:28125198   PMID:28380382   PMID:28405841   PMID:28443643   PMID:28514442   PMID:29194833  
PMID:29509794   PMID:29676528   PMID:30352687   PMID:30833792   PMID:31091453   PMID:31617661   PMID:31753913   PMID:31871319   PMID:32353859   PMID:32489187   PMID:32877691   PMID:32994395  
PMID:33033902   PMID:33060197   PMID:33084234   PMID:33845483   PMID:33961781   PMID:34172776   PMID:34436835   PMID:34709727  


Genomics

Comparative Map Data
COQ8B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381940,691,530 - 40,716,886 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1940,691,514 - 40,725,784 (-)EnsemblGRCh38hg38GRCh38
GRCh371941,197,435 - 41,222,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,889,274 - 45,914,440 (-)NCBINCBI36hg18NCBI36
Build 341945,889,273 - 45,914,440NCBI
Celera1937,997,846 - 38,023,215 (-)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1937,630,742 - 37,656,159 (-)NCBIHuRef
CHM1_11941,197,089 - 41,222,469 (-)NCBICHM1_1
T2T-CHM13v2.01943,512,196 - 43,537,578 (-)NCBI
Coq8b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39726,928,112 - 26,957,374 (+)NCBIGRCm39mm39
GRCm39 Ensembl726,932,448 - 26,957,375 (+)Ensembl
GRCm38727,228,676 - 27,257,949 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl727,233,023 - 27,257,950 (+)EnsemblGRCm38mm10GRCm38
MGSCv37728,018,032 - 28,042,968 (+)NCBIGRCm37mm9NCBIm37
MGSCv36726,942,749 - 26,966,705 (+)NCBImm8
Celera721,809,930 - 21,834,862 (+)NCBICelera
Cytogenetic Map7A3NCBI
Coq8b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2182,525,578 - 82,549,182 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl182,526,568 - 82,549,180 (+)Ensembl
Rnor_6.0184,043,487 - 84,067,066 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl184,044,551 - 84,067,066 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0185,255,491 - 85,278,009 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4182,310,541 - 82,332,822 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1182,388,651 - 82,410,933 (+)NCBI
Celera176,939,527 - 76,961,663 (+)NCBICelera
Cytogenetic Map1q21NCBI
Coq8b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955578615,381 - 635,488 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955578615,820 - 635,488 (+)NCBIChiLan1.0ChiLan1.0
COQ8B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11946,242,576 - 46,267,538 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1946,242,576 - 46,267,503 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01937,735,725 - 37,761,160 (-)NCBIMhudiblu_PPA_v0panPan3
COQ8B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11113,056,369 - 113,075,773 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1113,057,141 - 113,102,074 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1112,459,635 - 112,478,211 (+)NCBI
ROS_Cfam_1.01113,655,919 - 113,674,506 (+)NCBI
ROS_Cfam_1.0 Ensembl1113,655,984 - 113,701,252 (+)Ensembl
UMICH_Zoey_3.11113,215,422 - 113,233,994 (+)NCBI
UNSW_CanFamBas_1.01112,847,105 - 112,865,824 (+)NCBI
UU_Cfam_GSD_1.01113,841,403 - 113,859,981 (+)NCBI
Coq8b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934914,561,095 - 14,578,287 (-)NCBI
SpeTri2.0NW_0049366612,989,164 - 3,008,955 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COQ8B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1648,919,000 - 48,939,194 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2644,613,600 - 44,623,728 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COQ8B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1635,142,435 - 35,168,881 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl635,143,043 - 35,166,216 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607313,278,901 - 13,306,489 (-)NCBIVero_WHO_p1.0
Coq8b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624925622,811 - 655,948 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624925623,656 - 655,940 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH75304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,197,457 - 41,197,533UniSTSGRCh37
Build 361945,889,297 - 45,889,373RGDNCBI36
Celera1937,997,869 - 37,997,945RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.13-q13.2UniSTS
HuRef1937,630,765 - 37,630,841UniSTS
RH103895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,210,451 - 41,210,594UniSTSGRCh37
Build 361945,902,291 - 45,902,434RGDNCBI36
Celera1938,010,877 - 38,011,020RGD
Cytogenetic Map19q13.2UniSTS
HuRef1937,643,784 - 37,643,927UniSTS
GeneMap99-GB4 RH Map19234.96UniSTS
G34996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,197,442 - 41,197,543UniSTSGRCh37
Build 361945,889,282 - 45,889,383RGDNCBI36
Celera1937,997,854 - 37,997,955RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.13-q13.2UniSTS
HuRef1937,630,750 - 37,630,851UniSTS
SHGC-153683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,205,464 - 41,205,777UniSTSGRCh37
Build 361945,897,304 - 45,897,617RGDNCBI36
Celera1938,005,894 - 38,006,207RGD
Cytogenetic Map19q13.2UniSTS
HuRef1937,638,801 - 37,639,114UniSTS
TNG Radiation Hybrid Map1915364.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6438
Count of miRNA genes:1054
Interacting mature miRNAs:1337
Transcripts:ENST00000243583, ENST00000324464, ENST00000450541, ENST00000593544, ENST00000593723, ENST00000593724, ENST00000594084, ENST00000594490, ENST00000594720, ENST00000595254, ENST00000596357, ENST00000596455, ENST00000599643, ENST00000600080, ENST00000600707, ENST00000601304, ENST00000601451, ENST00000601967
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2340 2327 1456 374 1637 226 3659 1246 2925 319 1401 1539 159 1160 2135 3
Low 99 663 270 250 313 239 697 950 809 100 58 74 15 1 44 653 2 2
Below cutoff 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000243583   ⟹   ENSP00000243583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,530 - 40,715,073 (-)Ensembl
RefSeq Acc Id: ENST00000324464   ⟹   ENSP00000315118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,530 - 40,716,886 (-)Ensembl
RefSeq Acc Id: ENST00000593544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,705,312 - 40,715,106 (-)Ensembl
RefSeq Acc Id: ENST00000593723   ⟹   ENSP00000472775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,714,603 - 40,715,616 (-)Ensembl
RefSeq Acc Id: ENST00000593724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,795 (-)Ensembl
RefSeq Acc Id: ENST00000594084   ⟹   ENSP00000473189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,705,342 - 40,718,207 (-)Ensembl
RefSeq Acc Id: ENST00000594490   ⟹   ENSP00000471310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,938 (-)Ensembl
RefSeq Acc Id: ENST00000594720   ⟹   ENSP00000470876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,896 (-)Ensembl
RefSeq Acc Id: ENST00000595254   ⟹   ENSP00000470894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,700,405 - 40,715,085 (-)Ensembl
RefSeq Acc Id: ENST00000596357   ⟹   ENSP00000472925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,710,095 - 40,715,071 (-)Ensembl
RefSeq Acc Id: ENST00000596455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,852 (-)Ensembl
RefSeq Acc Id: ENST00000599643   ⟹   ENSP00000471192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,702,600 - 40,715,967 (-)Ensembl
RefSeq Acc Id: ENST00000600080   ⟹   ENSP00000473017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,705,118 - 40,715,084 (-)Ensembl
RefSeq Acc Id: ENST00000600707   ⟹   ENSP00000472978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,710,062 - 40,715,613 (-)Ensembl
RefSeq Acc Id: ENST00000601304   ⟹   ENSP00000472519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,703,722 - 40,714,785 (-)Ensembl
RefSeq Acc Id: ENST00000601451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,704,168 - 40,716,885 (-)Ensembl
RefSeq Acc Id: ENST00000601967   ⟹   ENSP00000470916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,098 (-)Ensembl
RefSeq Acc Id: ENST00000676555   ⟹   ENSP00000503387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,583 - 40,714,733 (-)Ensembl
RefSeq Acc Id: ENST00000676578   ⟹   ENSP00000504076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,781 (-)Ensembl
RefSeq Acc Id: ENST00000676651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,707,632 - 40,716,886 (-)Ensembl
RefSeq Acc Id: ENST00000676960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,996 (-)Ensembl
RefSeq Acc Id: ENST00000676962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,768 (-)Ensembl
RefSeq Acc Id: ENST00000677018   ⟹   ENSP00000503480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,882 (-)Ensembl
RefSeq Acc Id: ENST00000677039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,530 - 40,725,784 (-)Ensembl
RefSeq Acc Id: ENST00000677399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,882 (-)Ensembl
RefSeq Acc Id: ENST00000677496   ⟹   ENSP00000504773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,920 (-)Ensembl
RefSeq Acc Id: ENST00000677517   ⟹   ENSP00000503519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,111 (-)Ensembl
RefSeq Acc Id: ENST00000677633   ⟹   ENSP00000503645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,703 (-)Ensembl
RefSeq Acc Id: ENST00000677800   ⟹   ENSP00000503794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,078 (-)Ensembl
RefSeq Acc Id: ENST00000678057   ⟹   ENSP00000503762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,788 (-)Ensembl
RefSeq Acc Id: ENST00000678119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,960 (-)Ensembl
RefSeq Acc Id: ENST00000678166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,882 (-)Ensembl
RefSeq Acc Id: ENST00000678312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,882 (-)Ensembl
RefSeq Acc Id: ENST00000678316   ⟹   ENSP00000504112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,722 (-)Ensembl
RefSeq Acc Id: ENST00000678371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,798 (-)Ensembl
RefSeq Acc Id: ENST00000678404   ⟹   ENSP00000503944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,616 (-)Ensembl
RefSeq Acc Id: ENST00000678419   ⟹   ENSP00000504085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,990 (-)Ensembl
RefSeq Acc Id: ENST00000678433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,800 (-)Ensembl
RefSeq Acc Id: ENST00000678467   ⟹   ENSP00000504072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,749 (-)Ensembl
RefSeq Acc Id: ENST00000678569   ⟹   ENSP00000504261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,733 (-)Ensembl
RefSeq Acc Id: ENST00000678961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,093 (-)Ensembl
RefSeq Acc Id: ENST00000679002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,716,894 (-)Ensembl
RefSeq Acc Id: ENST00000679012   ⟹   ENSP00000504446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,852 (-)Ensembl
RefSeq Acc Id: ENST00000679070   ⟹   ENSP00000503759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,714,983 (-)Ensembl
RefSeq Acc Id: ENST00000679130   ⟹   ENSP00000504845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,852 (-)Ensembl
RefSeq Acc Id: ENST00000679315   ⟹   ENSP00000503065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1940,691,514 - 40,715,812 (-)Ensembl
RefSeq Acc Id: NM_001142555   ⟹   NP_001136027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,691,530 - 40,715,119 (-)NCBI
GRCh371941,197,434 - 41,222,790 (-)RGD
GRCh371941,197,434 - 41,222,790 (-)NCBI
Celera1937,997,846 - 38,023,215 (-)RGD
HuRef1937,630,742 - 37,656,159 (-)RGD
CHM1_11941,197,089 - 41,220,692 (-)NCBI
T2T-CHM13v2.01943,512,196 - 43,535,811 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024876   ⟹   NP_079152
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,691,530 - 40,716,886 (-)NCBI
GRCh371941,197,434 - 41,222,790 (-)RGD
GRCh371941,197,434 - 41,222,790 (-)NCBI
Build 361945,889,274 - 45,914,440 (-)NCBI Archive
Celera1937,997,846 - 38,023,215 (-)RGD
HuRef1937,630,742 - 37,656,159 (-)RGD
CHM1_11941,197,089 - 41,222,469 (-)NCBI
T2T-CHM13v2.01943,512,196 - 43,537,578 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079152   ⟸   NM_024876
- Peptide Label: isoform a
- UniProtKB: Q96D53 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001136027   ⟸   NM_001142555
- Peptide Label: isoform b
- UniProtKB: Q96D53 (UniProtKB/Swiss-Prot),   A0A024R0Q9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000470876   ⟸   ENST00000594720
RefSeq Acc Id: ENSP00000471310   ⟸   ENST00000594490
RefSeq Acc Id: ENSP00000470894   ⟸   ENST00000595254
RefSeq Acc Id: ENSP00000472925   ⟸   ENST00000596357
RefSeq Acc Id: ENSP00000471192   ⟸   ENST00000599643
RefSeq Acc Id: ENSP00000243583   ⟸   ENST00000243583
RefSeq Acc Id: ENSP00000315118   ⟸   ENST00000324464
RefSeq Acc Id: ENSP00000473017   ⟸   ENST00000600080
RefSeq Acc Id: ENSP00000472978   ⟸   ENST00000600707
RefSeq Acc Id: ENSP00000472519   ⟸   ENST00000601304
RefSeq Acc Id: ENSP00000470916   ⟸   ENST00000601967
RefSeq Acc Id: ENSP00000472775   ⟸   ENST00000593723
RefSeq Acc Id: ENSP00000473189   ⟸   ENST00000594084
RefSeq Acc Id: ENSP00000503387   ⟸   ENST00000676555
RefSeq Acc Id: ENSP00000504076   ⟸   ENST00000676578
RefSeq Acc Id: ENSP00000503480   ⟸   ENST00000677018
RefSeq Acc Id: ENSP00000503519   ⟸   ENST00000677517
RefSeq Acc Id: ENSP00000504773   ⟸   ENST00000677496
RefSeq Acc Id: ENSP00000503794   ⟸   ENST00000677800
RefSeq Acc Id: ENSP00000503645   ⟸   ENST00000677633
RefSeq Acc Id: ENSP00000503762   ⟸   ENST00000678057
RefSeq Acc Id: ENSP00000504072   ⟸   ENST00000678467
RefSeq Acc Id: ENSP00000504085   ⟸   ENST00000678419
RefSeq Acc Id: ENSP00000503944   ⟸   ENST00000678404
RefSeq Acc Id: ENSP00000504112   ⟸   ENST00000678316
RefSeq Acc Id: ENSP00000504261   ⟸   ENST00000678569
RefSeq Acc Id: ENSP00000503065   ⟸   ENST00000679315
RefSeq Acc Id: ENSP00000504845   ⟸   ENST00000679130
RefSeq Acc Id: ENSP00000504446   ⟸   ENST00000679012
RefSeq Acc Id: ENSP00000503759   ⟸   ENST00000679070
Protein Domains
ABC1   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96D53-F1-model_v2 AlphaFold Q96D53 1-544 view protein structure

Promoters
RGD ID:7239987
Promoter ID:EPDNEW_H25740
Type:initiation region
Name:ADCK4_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25742  EPDNEW_H25746  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,715,078 - 40,715,138EPDNEW
RGD ID:7239991
Promoter ID:EPDNEW_H25742
Type:initiation region
Name:ADCK4_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25740  EPDNEW_H25746  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,716,886 - 40,716,946EPDNEW
RGD ID:7240001
Promoter ID:EPDNEW_H25746
Type:initiation region
Name:ADCK4_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25740  EPDNEW_H25742  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,718,233 - 40,718,293EPDNEW
RGD ID:6795108
Promoter ID:HG_KWN:29988
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142555
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,912,666 - 45,913,532 (-)MPROMDB
RGD ID:6795684
Promoter ID:HG_KWN:29989
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000243583,   NM_024876,   NM_025194,   UC002OOS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,913,931 - 45,915,677 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) single nucleotide variant Nephrotic syndrome, type 9 [RCV000077753]|not provided [RCV001701490] Chr19:40705140 [GRCh38]
Chr19:41211045 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly) single nucleotide variant Nephrotic syndrome, type 9 [RCV000077754] Chr19:40702636 [GRCh38]
Chr19:41208541 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) single nucleotide variant Nephrotic syndrome, type 9 [RCV000077755] Chr19:40692223 [GRCh38]
Chr19:41198128 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp) single nucleotide variant Nephrotic syndrome, type 9 [RCV000077756] Chr19:40700387 [GRCh38]
Chr19:41206292 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) single nucleotide variant Nephrotic syndrome, type 9 [RCV000077757] Chr19:40700318 [GRCh38]
Chr19:41206223 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) deletion Nephrotic syndrome, type 9 [RCV000077759] Chr19:40692308..40692314 [GRCh38]
Chr19:41198213..41198219 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
NM_024876.3(ADCK4):c.826G>A (p.Ala276Thr) single nucleotide variant Malignant melanoma [RCV000072156] Chr19:40702667 [GRCh38]
Chr19:41208572 [GRCh37]
Chr19:45900412 [NCBI36]
Chr19:19q13.2		 not provided
NM_024876.4(COQ8B):c.1199dup (p.His400fs) duplication Nephrotic syndrome, type 9 [RCV000077758] Chr19:40695998..40695999 [GRCh38]
Chr19:41201903..41201904 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.795C>T (p.Pro265=) single nucleotide variant not provided [RCV000923423] Chr19:40703545 [GRCh38]
Chr19:41209450 [GRCh37]
Chr19:19q13.2		 likely benign
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2		 pathogenic
NM_024876.4(COQ8B):c.1206C>T (p.Ile402=) single nucleotide variant not provided [RCV000961642] Chr19:40695992 [GRCh38]
Chr19:41201897 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.718-8C>G single nucleotide variant not provided [RCV000961643]|not specified [RCV000445106] Chr19:40703630 [GRCh38]
Chr19:41209535 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys) single nucleotide variant not provided [RCV000676545]|not specified [RCV000427417] Chr19:40714124 [GRCh38]
Chr19:41220029 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.1209G>A (p.Glu403=) single nucleotide variant not provided [RCV000427980] Chr19:40695989 [GRCh38]
Chr19:41201894 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.597C>T (p.Leu199=) single nucleotide variant not provided [RCV000921487]|not specified [RCV000431587] Chr19:40703835 [GRCh38]
Chr19:41209740 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.521A>G (p.His174Arg) single nucleotide variant not provided [RCV000676543]|not specified [RCV000431741] Chr19:40705151 [GRCh38]
Chr19:41211056 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.768G>A (p.Ala256=) single nucleotide variant Nephrotic syndrome, type 9 [RCV001549070]|not provided [RCV000676541]|not specified [RCV000438470] Chr19:40703572 [GRCh38]
Chr19:41209477 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1119C>T (p.Phe373=) single nucleotide variant not provided [RCV000676538]|not specified [RCV000418631] Chr19:40700091 [GRCh38]
Chr19:41205996 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1297-13C>T single nucleotide variant not specified [RCV000424740] Chr19:40692386 [GRCh38]
Chr19:41198291 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.289+13T>C single nucleotide variant not specified [RCV000418920] Chr19:40714054 [GRCh38]
Chr19:41219959 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1035+7T>C single nucleotide variant Nephrotic syndrome, type 9 [RCV001549069]|not provided [RCV000676540]|not specified [RCV000421712] Chr19:40700303 [GRCh38]
Chr19:41206208 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.663G>T (p.Gly221=) single nucleotide variant not specified [RCV000425137] Chr19:40703769 [GRCh38]
Chr19:41209674 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.648C>T (p.Ala216=) single nucleotide variant not provided [RCV000676542]|not specified [RCV000425198] Chr19:40703784 [GRCh38]
Chr19:41209689 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1035+13G>C single nucleotide variant not provided [RCV002059620]|not specified [RCV000432331] Chr19:40700297 [GRCh38]
Chr19:41206202 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.9G>A (p.Leu3=) single nucleotide variant not provided [RCV000676547]|not specified [RCV000432894] Chr19:40714624 [GRCh38]
Chr19:41220529 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1305C>T (p.Ser435=) single nucleotide variant not provided [RCV000892685]|not specified [RCV000443807] Chr19:40692365 [GRCh38]
Chr19:41198270 [GRCh37]
Chr19:19q13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024876.4(COQ8B):c.1210-10G>A single nucleotide variant not provided [RCV000965435]|not specified [RCV000443843] Chr19:40693047 [GRCh38]
Chr19:41198952 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1578C>T (p.Asp526=) single nucleotide variant not provided [RCV002062326]|not specified [RCV000422888] Chr19:40692092 [GRCh38]
Chr19:41197997 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1365T>C (p.Tyr455=) single nucleotide variant not provided [RCV000890391]|not specified [RCV000426642] Chr19:40692305 [GRCh38]
Chr19:41198210 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.534G>A (p.Arg178=) single nucleotide variant not provided [RCV000902614] Chr19:40705138 [GRCh38]
Chr19:41211043 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.663G>A (p.Gly221=) single nucleotide variant not provided [RCV000955753]|not specified [RCV000423290] Chr19:40703769 [GRCh38]
Chr19:41209674 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.*10T>C single nucleotide variant not specified [RCV000430471] Chr19:40692025 [GRCh38]
Chr19:41197930 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg) single nucleotide variant not provided [RCV000676539]|not specified [RCV000423472] Chr19:40700155 [GRCh38]
Chr19:41206060 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) single nucleotide variant Nephrotic syndrome, type 9 [RCV000416385]|not provided [RCV001091178] Chr19:40692240 [GRCh38]
Chr19:41198145 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic
NM_024876.4(COQ8B):c.645del (p.Phe215fs) deletion Nephrotic syndrome, type 9 [RCV000416403]|not provided [RCV001851012] Chr19:40703787 [GRCh38]
Chr19:41209692 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.954_956dup (p.Thr319dup) duplication Nephrotic syndrome, type 9 [RCV000416394] Chr19:40700388..40700389 [GRCh38]
Chr19:41206293..41206294 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter) single nucleotide variant Nephrotic syndrome, type 9 [RCV000416411] Chr19:40714532 [GRCh38]
Chr19:41220437 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.1035+7_1035+8inv inversion not provided [RCV002063766]|not specified [RCV000486871] Chr19:40700302..40700303 [GRCh38]
Chr19:41206207..41206208 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.96C>T (p.His32=) single nucleotide variant not specified [RCV000603450] Chr19:40714537 [GRCh38]
Chr19:41220442 [GRCh37]
Chr19:19q13.2		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) single nucleotide variant not provided [RCV000676537] Chr19:40692323 [GRCh38]
Chr19:41198228 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.1037T>G (p.Ile346Ser) single nucleotide variant Inborn genetic diseases [RCV000623406] Chr19:40700173 [GRCh38]
Chr19:41206078 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.1080G>A (p.Glu360=) single nucleotide variant not provided [RCV002066620]|not specified [RCV000602106] Chr19:40700130 [GRCh38]
Chr19:41206035 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.501C>A (p.Phe167Leu) single nucleotide variant not provided [RCV000949420]|not specified [RCV000615107] Chr19:40705171 [GRCh38]
Chr19:41211076 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter) single nucleotide variant Inborn genetic diseases [RCV000624373]|Nephrotic syndrome, type 9 [RCV002248823]|not provided [RCV001868151] Chr19:40692110 [GRCh38]
Chr19:41198015 [GRCh37]
Chr19:19q13.2		 pathogenic|uncertain significance
NM_024876.4(COQ8B):c.491-18G>C single nucleotide variant not provided [RCV002062960]|not specified [RCV000615472] Chr19:40705199 [GRCh38]
Chr19:41211104 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.381G>A (p.Gly127=) single nucleotide variant not provided [RCV000676544]|not specified [RCV000610277] Chr19:40705434 [GRCh38]
Chr19:41211339 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.786G>A (p.Ala262=) single nucleotide variant not provided [RCV000925256]|not specified [RCV000602528] Chr19:40703554 [GRCh38]
Chr19:41209459 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.490+17G>A single nucleotide variant not specified [RCV000608551] Chr19:40705308 [GRCh38]
Chr19:41211213 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1125T>C (p.Tyr375=) single nucleotide variant not provided [RCV000896711]|not specified [RCV000599651] Chr19:40700085 [GRCh38]
Chr19:41205990 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1128T>C (p.Asp376=) single nucleotide variant not specified [RCV000604011] Chr19:40700082 [GRCh38]
Chr19:41205987 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys) single nucleotide variant not provided [RCV000676536] Chr19:40692306 [GRCh38]
Chr19:41198211 [GRCh37]
Chr19:19q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp) single nucleotide variant not provided [RCV000676546] Chr19:40714313 [GRCh38]
Chr19:41220218 [GRCh37]
Chr19:19q13.2		 benign|uncertain significance
NM_024876.4(COQ8B):c.1304C>T (p.Ser435Phe) single nucleotide variant not provided [RCV001544663] Chr19:40692366 [GRCh38]
Chr19:41198271 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_024876.4(COQ8B):c.800-210G>A single nucleotide variant not provided [RCV001546107] Chr19:40702903 [GRCh38]
Chr19:41208808 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1419G>A (p.Leu473=) single nucleotide variant not provided [RCV000919648] Chr19:40692251 [GRCh38]
Chr19:41198156 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.290-256C>T single nucleotide variant not provided [RCV001648881] Chr19:40710392 [GRCh38]
Chr19:41216297 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.893+105CT[3] microsatellite not provided [RCV001612056] Chr19:40702488..40702489 [GRCh38]
Chr19:41208393..41208394 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1296+35_1296+36del deletion not provided [RCV001552136] Chr19:40692915..40692916 [GRCh38]
Chr19:41198820..41198821 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1297-5C>A single nucleotide variant not provided [RCV000921345] Chr19:40692378 [GRCh38]
Chr19:41198283 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.207G>A (p.Lys69=) single nucleotide variant not provided [RCV000971082] Chr19:40714293 [GRCh38]
Chr19:41220198 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.405G>A (p.Ser135=) single nucleotide variant not provided [RCV000927104] Chr19:40705410 [GRCh38]
Chr19:41211315 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.893+271_893+274del microsatellite not provided [RCV000843356] Chr19:40702326..40702329 [GRCh38]
Chr19:41208231..41208234 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1297-6T>G single nucleotide variant not provided [RCV000879734] Chr19:40692379 [GRCh38]
Chr19:41198284 [GRCh37]
Chr19:19q13.2		 likely benign|conflicting interpretations of pathogenicity
NM_024876.4(COQ8B):c.1210-10G>C single nucleotide variant not provided [RCV000924867] Chr19:40693047 [GRCh38]
Chr19:41198952 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.800-4A>G single nucleotide variant not provided [RCV000901919] Chr19:40702697 [GRCh38]
Chr19:41208602 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.20G>A (p.Gly7Asp) single nucleotide variant not provided [RCV000894154] Chr19:40714613 [GRCh38]
Chr19:41220518 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.799+269G>A single nucleotide variant not provided [RCV000830934] Chr19:40703272 [GRCh38]
Chr19:41209177 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.-35G>A single nucleotide variant not provided [RCV000840220] Chr19:40716618 [GRCh38]
Chr19:41222523 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1297-204A>G single nucleotide variant not provided [RCV000843357] Chr19:40692577 [GRCh38]
Chr19:41198482 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.577-203C>T single nucleotide variant not provided [RCV000832923] Chr19:40704058 [GRCh38]
Chr19:41209963 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.368-69G>A single nucleotide variant not provided [RCV000834871] Chr19:40705516 [GRCh38]
Chr19:41211421 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.491-46C>T single nucleotide variant not provided [RCV000834872] Chr19:40705227 [GRCh38]
Chr19:41211132 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1209+124C>T single nucleotide variant not provided [RCV000837784] Chr19:40695865 [GRCh38]
Chr19:41201770 [GRCh37]
Chr19:19q13.2		 likely benign
GRCh37/hg19 19q13.2(chr19:41191376-41239029)x3 copy number gain not provided [RCV000849757] Chr19:41191376..41239029 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.873G>A (p.Ala291=) single nucleotide variant not provided [RCV000836845] Chr19:40702620 [GRCh38]
Chr19:41208525 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1297-179C>T single nucleotide variant not provided [RCV000833006] Chr19:40692552 [GRCh38]
Chr19:41198457 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.800-206C>T single nucleotide variant not provided [RCV000843355] Chr19:40702899 [GRCh38]
Chr19:41208804 [GRCh37]
Chr19:19q13.2		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_024876.4(COQ8B):c.491-56C>T single nucleotide variant not provided [RCV001544844] Chr19:40705237 [GRCh38]
Chr19:41211142 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.367+269G>C single nucleotide variant not provided [RCV001683957] Chr19:40709790 [GRCh38]
Chr19:41215695 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.367+158C>T single nucleotide variant not provided [RCV001550066] Chr19:40709901 [GRCh38]
Chr19:41215806 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1297-239G>C single nucleotide variant not provided [RCV001555732] Chr19:40692612 [GRCh38]
Chr19:41198517 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.706G>A (p.Val236Met) single nucleotide variant not provided [RCV001550671] Chr19:40703726 [GRCh38]
Chr19:41209631 [GRCh37]
Chr19:19q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024876.4(COQ8B):c.1296+221G>A single nucleotide variant not provided [RCV001561932] Chr19:40692730 [GRCh38]
Chr19:41198635 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1209+42C>T single nucleotide variant not provided [RCV001569894] Chr19:40695947 [GRCh38]
Chr19:41201852 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.893+76T>C single nucleotide variant not provided [RCV001559363] Chr19:40702524 [GRCh38]
Chr19:41208429 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1209+109_1209+115del microsatellite not provided [RCV001635621] Chr19:40695874..40695880 [GRCh38]
Chr19:41201779..41201785 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.344T>C (p.Met115Thr) single nucleotide variant not provided [RCV000887151] Chr19:40710082 [GRCh38]
Chr19:41215987 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.690C>T (p.Asp230=) single nucleotide variant not provided [RCV000930981] Chr19:40703742 [GRCh38]
Chr19:41209647 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.681G>T (p.Leu227=) single nucleotide variant not provided [RCV000915241] Chr19:40703751 [GRCh38]
Chr19:41209656 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.577-4G>A single nucleotide variant not provided [RCV000942347] Chr19:40703859 [GRCh38]
Chr19:41209764 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1035+8G>A single nucleotide variant Nephrotic syndrome, type 9 [RCV001731977]|not provided [RCV000918610] Chr19:40700302 [GRCh38]
Chr19:41206207 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_024876.4(COQ8B):c.1036-3C>G single nucleotide variant not provided [RCV000887150] Chr19:40700177 [GRCh38]
Chr19:41206082 [GRCh37]
Chr19:19q13.2		 likely benign|conflicting interpretations of pathogenicity
NM_024876.4(COQ8B):c.549C>T (p.Ala183=) single nucleotide variant not provided [RCV000913158] Chr19:40705123 [GRCh38]
Chr19:41211028 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.*137G>A single nucleotide variant not provided [RCV001563112] Chr19:40691898 [GRCh38]
Chr19:41197803 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.*174C>T single nucleotide variant not provided [RCV001552778] Chr19:40691861 [GRCh38]
Chr19:41197766 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.298G>T (p.Val100Leu) single nucleotide variant not provided [RCV001546043] Chr19:40710128 [GRCh38]
Chr19:41216033 [GRCh37]
Chr19:19q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024876.4(COQ8B):c.103-62G>C single nucleotide variant not provided [RCV001540688] Chr19:40714459 [GRCh38]
Chr19:41220364 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.691G>A (p.Gly231Arg) single nucleotide variant not provided [RCV001592568] Chr19:40703741 [GRCh38]
Chr19:41209646 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.799+190T>C single nucleotide variant not provided [RCV001687708] Chr19:40703351 [GRCh38]
Chr19:41209256 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.800-5C>G single nucleotide variant not provided [RCV001587763] Chr19:40702698 [GRCh38]
Chr19:41208603 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.289+190del deletion not provided [RCV001547877] Chr19:40713877 [GRCh38]
Chr19:41219782 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.748G>A (p.Asp250Asn) single nucleotide variant Nephrotic syndrome, type 9 [RCV001270630] Chr19:40703592 [GRCh38]
Chr19:41209497 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.491-46C>G single nucleotide variant not provided [RCV001568064] Chr19:40705227 [GRCh38]
Chr19:41211132 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.439T>C (p.Cys147Arg) single nucleotide variant Nephrotic syndrome, type 9 [RCV001281241] Chr19:40705376 [GRCh38]
Chr19:41211281 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_024876.4(COQ8B):c.1035+2T>C single nucleotide variant Nephrotic syndrome, type 9 [RCV001281240] Chr19:40700308 [GRCh38]
Chr19:41206213 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.1186G>A (p.Glu396Lys) single nucleotide variant Nephrotic syndrome, type 9 [RCV001329376] Chr19:40696012 [GRCh38]
Chr19:41201917 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) single nucleotide variant Nephrotic syndrome, type 9 [RCV001281242]|not provided [RCV001575910] Chr19:40703603 [GRCh38]
Chr19:41209508 [GRCh37]
Chr19:19q13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) single nucleotide variant Nephrotic syndrome [RCV001328147]|Nephrotic syndrome, type 9 [RCV001281243] Chr19:40703592 [GRCh38]
Chr19:41209497 [GRCh37]
Chr19:19q13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024876.4(COQ8B):c.1391G>A (p.Arg464His) single nucleotide variant Nephrotic syndrome, type 9 [RCV001333231] Chr19:40692279 [GRCh38]
Chr19:41198184 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys) single nucleotide variant Focal segmental glomerulosclerosis [RCV001328146] Chr19:40705134 [GRCh38]
Chr19:41211039 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.1110G>A (p.Trp370Ter) single nucleotide variant Nephrotic syndrome, type 9 [RCV001329375] Chr19:40700100 [GRCh38]
Chr19:41206005 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.1552C>T (p.Arg518Cys) single nucleotide variant Nephrotic syndrome, type 9 [RCV001329377] Chr19:40692118 [GRCh38]
Chr19:41198023 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.893+1G>T single nucleotide variant not provided [RCV001548238] Chr19:40702599 [GRCh38]
Chr19:41208504 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.893+2T>A single nucleotide variant Nephrotic syndrome, type 9 [RCV001391127] Chr19:40702598 [GRCh38]
Chr19:41208503 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.1035+3A>G single nucleotide variant Nephrotic syndrome, type 9 [RCV001391128] Chr19:40700307 [GRCh38]
Chr19:41206212 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.289+174dup duplication not provided [RCV001541341] Chr19:40713876..40713877 [GRCh38]
Chr19:41219781..41219782 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1144-184del deletion not provided [RCV001674700] Chr19:40696238 [GRCh38]
Chr19:41202143 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.290-131A>G single nucleotide variant not provided [RCV001716167] Chr19:40710267 [GRCh38]
Chr19:41216172 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.953C>T (p.Thr318Met) single nucleotide variant not provided [RCV001774778] Chr19:40700392 [GRCh38]
Chr19:41206297 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.196C>T (p.Arg66Cys) single nucleotide variant not provided [RCV001773232] Chr19:40714304 [GRCh38]
Chr19:41220209 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NM_024876.4(COQ8B):c.923G>A (p.Arg308Gln) single nucleotide variant not provided [RCV001773239] Chr19:40700422 [GRCh38]
Chr19:41206327 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.1172G>A (p.Arg391Gln) single nucleotide variant not provided [RCV001752407] Chr19:40696026 [GRCh38]
Chr19:41201931 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.533G>A (p.Arg178Gln) single nucleotide variant not provided [RCV001733436] Chr19:40705139 [GRCh38]
Chr19:41211044 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.239G>A (p.Arg80Gln) single nucleotide variant not provided [RCV001763228] Chr19:40714117 [GRCh38]
Chr19:41220022 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.98G>A (p.Arg33His) single nucleotide variant not provided [RCV001822033] Chr19:40714535 [GRCh38]
Chr19:41220440 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.988G>A (p.Val330Ile) single nucleotide variant not provided [RCV001864107] Chr19:40700357 [GRCh38]
Chr19:41206262 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.233G>A (p.Arg78His) single nucleotide variant not provided [RCV001912068] Chr19:40714123 [GRCh38]
Chr19:41220028 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.943G>A (p.Glu315Lys) single nucleotide variant not provided [RCV002045314] Chr19:40700402 [GRCh38]
Chr19:41206307 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.49G>C (p.Gly17Arg) single nucleotide variant not provided [RCV001929163] Chr19:40714584 [GRCh38]
Chr19:41220489 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.427G>A (p.Val143Met) single nucleotide variant not provided [RCV001971013] Chr19:40705388 [GRCh38]
Chr19:41211293 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.371G>A (p.Gly124Asp) single nucleotide variant not provided [RCV001895589] Chr19:40705444 [GRCh38]
Chr19:41211349 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.1043T>A (p.Phe348Tyr) single nucleotide variant not provided [RCV001932374] Chr19:40700167 [GRCh38]
Chr19:41206072 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.70T>C (p.Cys24Arg) single nucleotide variant not provided [RCV002031415] Chr19:40714563 [GRCh38]
Chr19:41220468 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.139C>G (p.Gln47Glu) single nucleotide variant not provided [RCV002017171] Chr19:40714361 [GRCh38]
Chr19:41220266 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.877T>C (p.Cys293Arg) single nucleotide variant not provided [RCV001976651] Chr19:40702616 [GRCh38]
Chr19:41208521 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.811G>A (p.Glu271Lys) single nucleotide variant not provided [RCV001935315] Chr19:40702682 [GRCh38]
Chr19:41208587 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.102+9C>T single nucleotide variant not provided [RCV001881499] Chr19:40714522 [GRCh38]
Chr19:41220427 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.811G>T (p.Glu271Ter) single nucleotide variant not provided [RCV001939381] Chr19:40702682 [GRCh38]
Chr19:41208587 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_024876.4(COQ8B):c.520_521inv (p.His174Cys) inversion not provided [RCV002046902] Chr19:40705151..40705152 [GRCh38]
Chr19:41211056..41211057 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.223-5C>T single nucleotide variant not provided [RCV002107234] Chr19:40714138 [GRCh38]
Chr19:41220043 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.576+14G>A single nucleotide variant not provided [RCV002208688] Chr19:40705082 [GRCh38]
Chr19:41210987 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.368-20A>G single nucleotide variant not provided [RCV002187831] Chr19:40705467 [GRCh38]
Chr19:41211372 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.290-15_290-13del microsatellite not provided [RCV002165696] Chr19:40710149..40710151 [GRCh38]
Chr19:41216054..41216056 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.799+91G>A single nucleotide variant not provided [RCV002224820] Chr19:40703450 [GRCh38]
Chr19:41209355 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_024876.4(COQ8B):c.368-18T>C single nucleotide variant not provided [RCV002128835] Chr19:40705465 [GRCh38]
Chr19:41211370 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro) single nucleotide variant not provided [RCV002205295] Chr19:40702667 [GRCh38]
Chr19:41208572 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.783C>T (p.Ser261=) single nucleotide variant not provided [RCV002101713] Chr19:40703557 [GRCh38]
Chr19:41209462 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.1296+13T>C single nucleotide variant not provided [RCV002220719] Chr19:40692938 [GRCh38]
Chr19:41198843 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.1297-15del deletion not provided [RCV002217268] Chr19:40692388 [GRCh38]
Chr19:41198293 [GRCh37]
Chr19:19q13.2		 benign
NM_024876.4(COQ8B):c.810C>T (p.Ala270=) single nucleotide variant not provided [RCV002101283] Chr19:40702683 [GRCh38]
Chr19:41208588 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.796G>A (p.Ala266Thr) single nucleotide variant not provided [RCV002202807] Chr19:40703544 [GRCh38]
Chr19:41209449 [GRCh37]
Chr19:19q13.2		 likely benign
NM_024876.4(COQ8B):c.421C>T (p.Arg141Trp) single nucleotide variant not provided [RCV002247185] Chr19:40705394 [GRCh38]
Chr19:41211299 [GRCh37]
Chr19:19q13.2		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19041 AgrOrtholog
COSMIC COQ8B COSMIC
Ensembl Genes ENSG00000123815 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000243583 ENTREZGENE
  ENSP00000243583.5 UniProtKB/Swiss-Prot
  ENSP00000315118 ENTREZGENE
  ENSP00000315118.3 UniProtKB/Swiss-Prot
  ENSP00000470876 UniProtKB/TrEMBL
  ENSP00000470876.2 UniProtKB/Swiss-Prot
  ENSP00000470894.1 UniProtKB/TrEMBL
  ENSP00000470916 UniProtKB/TrEMBL
  ENSP00000470916.2 UniProtKB/Swiss-Prot
  ENSP00000471192.1 UniProtKB/TrEMBL
  ENSP00000471310.2 UniProtKB/TrEMBL
  ENSP00000472519.1 UniProtKB/TrEMBL
  ENSP00000472925.1 UniProtKB/TrEMBL
  ENSP00000472978.1 UniProtKB/TrEMBL
  ENSP00000473017.1 UniProtKB/TrEMBL
  ENSP00000473189.1 UniProtKB/TrEMBL
  ENSP00000503065.1 UniProtKB/TrEMBL
  ENSP00000503387.1 UniProtKB/TrEMBL
  ENSP00000503480.1 UniProtKB/Swiss-Prot
  ENSP00000503519.1 UniProtKB/TrEMBL
  ENSP00000503645.1 UniProtKB/TrEMBL
  ENSP00000503759.1 UniProtKB/TrEMBL
  ENSP00000503762.1 UniProtKB/TrEMBL
  ENSP00000503794.1 UniProtKB/TrEMBL
  ENSP00000503944.1 UniProtKB/Swiss-Prot
  ENSP00000504072.1 UniProtKB/Swiss-Prot
  ENSP00000504076.1 UniProtKB/TrEMBL
  ENSP00000504085.1 UniProtKB/Swiss-Prot
  ENSP00000504112.1 UniProtKB/TrEMBL
  ENSP00000504261.1 UniProtKB/TrEMBL
  ENSP00000504446.1 UniProtKB/TrEMBL
  ENSP00000504773.1 UniProtKB/TrEMBL
  ENSP00000504845.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000243583 ENTREZGENE
  ENST00000243583.10 UniProtKB/Swiss-Prot
  ENST00000324464 ENTREZGENE
  ENST00000324464.8 UniProtKB/Swiss-Prot
  ENST00000594084.5 UniProtKB/TrEMBL
  ENST00000594490.6 UniProtKB/TrEMBL
  ENST00000594720 UniProtKB/TrEMBL
  ENST00000594720.6 UniProtKB/Swiss-Prot
  ENST00000595254.5 UniProtKB/TrEMBL
  ENST00000596357.1 UniProtKB/TrEMBL
  ENST00000599643.5 UniProtKB/TrEMBL
  ENST00000600080.5 UniProtKB/TrEMBL
  ENST00000600707.5 UniProtKB/TrEMBL
  ENST00000601304.5 UniProtKB/TrEMBL
  ENST00000601967 UniProtKB/TrEMBL
  ENST00000601967.6 UniProtKB/Swiss-Prot
  ENST00000676555.1 UniProtKB/TrEMBL
  ENST00000676578.1 UniProtKB/TrEMBL
  ENST00000677018.1 UniProtKB/Swiss-Prot
  ENST00000677496.1 UniProtKB/TrEMBL
  ENST00000677517.1 UniProtKB/TrEMBL
  ENST00000677633.1 UniProtKB/TrEMBL
  ENST00000677800.1 UniProtKB/TrEMBL
  ENST00000678057.1 UniProtKB/TrEMBL
  ENST00000678316.1 UniProtKB/TrEMBL
  ENST00000678404.1 UniProtKB/Swiss-Prot
  ENST00000678419.1 UniProtKB/Swiss-Prot
  ENST00000678467.1 UniProtKB/Swiss-Prot
  ENST00000678569.1 UniProtKB/TrEMBL
  ENST00000679012.1 UniProtKB/TrEMBL
  ENST00000679070.1 UniProtKB/TrEMBL
  ENST00000679130.1 UniProtKB/Swiss-Prot
  ENST00000679315.1 UniProtKB/TrEMBL
GTEx ENSG00000123815 GTEx
HGNC ID HGNC:19041 ENTREZGENE
Human Proteome Map COQ8B Human Proteome Map
InterPro ADCK3_UbiB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COQ8B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UbiB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79934 UniProtKB/Swiss-Prot
NCBI Gene 79934 ENTREZGENE
OMIM 615567 OMIM
  615573 OMIM
PANTHER PTHR43851:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134988974 PharmGKB
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R0Q9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V2R1_HUMAN UniProtKB/TrEMBL
  A0A7I2V3G8_HUMAN UniProtKB/TrEMBL
  A0A7I2V3W7_HUMAN UniProtKB/TrEMBL
  A0A7I2V3Y0_HUMAN UniProtKB/TrEMBL
  A0A7I2V455_HUMAN UniProtKB/TrEMBL
  A0A7I2V4T3_HUMAN UniProtKB/TrEMBL
  A0A7I2V4Z6_HUMAN UniProtKB/TrEMBL
  A0A7I2V544_HUMAN UniProtKB/TrEMBL
  A0A7I2V559_HUMAN UniProtKB/TrEMBL
  A0A7I2V5Z5_HUMAN UniProtKB/TrEMBL
  COQ8B_HUMAN UniProtKB/Swiss-Prot
  M0QZZ2_HUMAN UniProtKB/TrEMBL
  M0R001_HUMAN UniProtKB/TrEMBL
  M0R011_HUMAN UniProtKB/TrEMBL
  M0R0F4_HUMAN UniProtKB/TrEMBL
  M0R0L2_HUMAN UniProtKB/TrEMBL
  M0R2F4_HUMAN UniProtKB/TrEMBL
  M0R307_HUMAN UniProtKB/TrEMBL
  M0R340_HUMAN UniProtKB/TrEMBL
  M0R362_HUMAN UniProtKB/TrEMBL
  M0R3F7_HUMAN UniProtKB/TrEMBL
  Q96D53 ENTREZGENE
UniProt Secondary Q8TAJ1 UniProtKB/Swiss-Prot
  Q9HA52 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 COQ8B  coenzyme Q8B  ADCK4  aarF domain containing kinase 4  Symbol and/or name change 5135510 APPROVED
2011-11-15 ADCK4  aarF domain containing kinase 4  ADCK4  aarF domain containing kinase 4  Symbol and/or name change 5135510 APPROVED