BCKDK (branched chain keto acid dehydrogenase kinase)

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Gene: BCKDK (branched chain keto acid dehydrogenase kinase) Homo sapiens

Analyze

Symbol:

BCKDK

Name:

branched chain keto acid dehydrogenase kinase

RGD ID:

69214

HGNC Page

HGNC:16902

Description:

Predicted to enable ATP binding activity; protein serine/threonine kinase activity; and pyruvate dehydrogenase (acetyl-transferring) kinase activity. Predicted to be involved in branched-chain amino acid catabolic process; protein phosphorylation; and regulation of glucose metabolic process. Located in mitochondrion. Implicated in branched-chain keto acid dehydrogenase kinase deficiency.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

3-methyl-2-oxobutanoate dehydrogenase [lipoamide] kinase, mitochondrial; [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; BCKD-kinase; BCKDHKIN; BCKDKD; BDK; branched chain alpha-ketoacid dehydrogenase kinase; branched chain ketoacid dehydrogenase kinase; branched-chain alpha-ketoacid dehydrogenase kinase

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	31,108,386 - 31,117,640 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	16	31,106,107 - 31,112,791 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	31,119,707 - 31,124,159 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	31,027,223 - 31,031,422 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	31,027,221 - 31,031,420	NCBI
Celera	16	29,173,915 - 29,178,365 (-)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI		HuRef
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	31,495,847 - 31,505,117 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (ISS)

branched-chain keto acid dehydrogenase kinase deficiency (IAGP,ISO)

epilepsy (IAGP)

genetic disease (IAGP)

intellectual disability (IAGP)

maple syrup urine disease (IAGP)

oligospermia (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

acrylamide (EXP)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

aristolochic acid A (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bucladesine (EXP)

caffeine (EXP)

cisplatin (EXP)

clobetasol (ISO)

clofibrate (ISO)

clofibric acid (ISO)

cobalt dichloride (EXP,ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

daidzein (EXP)

daidzein 7-O-beta-D-glucoside (EXP)

dibutyl phthalate (ISO)

dimethylarsinic acid (ISO)

doxorubicin (EXP)

fenofibrate (ISO)

folic acid (ISO)

formaldehyde (EXP)

genistein (EXP)

genistein 7-O-beta-D-glucoside (EXP)

gentamycin (ISO)

glycitein (EXP)

glycitin (EXP)

hydralazine (EXP)

hydrogen peroxide (EXP)

hydroquinone O-beta-D-glucopyranoside (EXP)

hypochlorous acid (ISO)

isobutanol (EXP)

ivermectin (EXP)

medroxyprogesterone acetate (EXP)

methapyrilene (ISO)

methoxyacetic acid (ISO)

N-nitrosodiethylamine (ISO)

nefazodone (ISO)

ochratoxin A (ISO)

oxaliplatin (ISO)

paracetamol (ISO)

pirinixic acid (ISO)

procymidone (ISO)

quercetin (EXP)

rac-lactic acid (EXP)

rotenone (ISO)

sodium dichromate (EXP)

sodium fluoride (ISO)

testosterone (ISO)

thapsigargin (EXP,ISO)

titanium dioxide (ISO)

topotecan (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amino acid catabolic process (NAS)

branched-chain amino acid catabolic process (ISS,TAS)

isoleucine catabolic process (ISO)

leucine catabolic process (ISO)

negative regulation of cellular amino acid metabolic process (TAS)

phosphorylation (IEA,ISS,TAS)

protein phosphorylation (IBA)

regulation of glucose metabolic process (IBA)

spermatogenesis (ISO)

valine catabolic process (ISO)

Cellular Component

mitochondrial alpha-ketoglutarate dehydrogenase complex (ISS,TAS)

mitochondrial matrix (IEA,TAS)

mitochondrion (HDA,IBA,IDA,IEA,TAS)

Molecular Function

[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (IEA,ISO,TAS)

ATP binding (IEA,ISS)

kinase activity (IEA,TAS)

nucleotide binding (IEA)

protein binding (IPI)

protein kinase activity (IEA)

protein serine/threonine kinase activity (ISS)

pyruvate dehydrogenase (acetyl-transferring) kinase activity (IBA)

transferase activity (IEA)

transferase activity, transferring phosphorus-containing groups (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating branched chain amino acid concentration (IAGP)

Autism (IAGP)

Intellectual disability (IAGP)

Seizure (IAGP)

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
6.	A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems.	Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.

Additional References at PubMed

PMID:1377677	PMID:1889817	PMID:2403034	PMID:8889548	PMID:11839747	PMID:12023963	PMID:12477932	PMID:15302860	PMID:15489334	PMID:15604093	PMID:17353931	PMID:18985028
PMID:19913121	PMID:20628086	PMID:20811636	PMID:20833797	PMID:20877624	PMID:21653829	PMID:21832049	PMID:21873635	PMID:21988832	PMID:24449431	PMID:24981860	PMID:25064009
PMID:26186194	PMID:26972000	PMID:27107014	PMID:27432908	PMID:27499296	PMID:27503909	PMID:27773658	PMID:27880917	PMID:28319085	PMID:28501528	PMID:28514442	PMID:28718761
PMID:29509190	PMID:29540532	PMID:30021884	PMID:30196744	PMID:30581152	PMID:30833792	PMID:30880162	PMID:31527615	PMID:31540324	PMID:32238881	PMID:32296183	PMID:32353859
PMID:32457292	PMID:32707033	PMID:32877691	PMID:33060197	PMID:33658012	PMID:33957083	PMID:33961781	PMID:34079125	PMID:35256949	PMID:35271311	PMID:35509820	PMID:35545034
PMID:35563538	PMID:35831314	PMID:35944360	PMID:36215168	PMID:36244648

Genomics

Comparative Map Data

BCKDK
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	31,108,386 - 31,117,640 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	16	31,106,107 - 31,112,791 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	31,119,707 - 31,124,159 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	31,027,223 - 31,031,422 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	31,027,221 - 31,031,420	NCBI
Celera	16	29,173,915 - 29,178,365 (-)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI		HuRef
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	31,495,847 - 31,505,117 (+)	NCBI		T2T-CHM13v2.0

Bckdk
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	127,503,245 - 127,508,836 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	127,503,254 - 127,509,393 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	127,904,073 - 127,909,664 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	127,904,082 - 127,910,221 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	135,047,587 - 135,053,178 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	127,695,221 - 127,700,812 (+)	NCBI		MGSCv36	mm8
Celera	7	127,739,285 - 127,744,876 (+)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI

Bckdk
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	1	182,515,335 - 182,520,007 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	182,515,327 - 182,536,633 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	190,865,878 - 190,870,549 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	1	198,051,970 - 198,056,641 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	1	190,722,400 - 190,727,069 (+)	NCBI	Rnor_WKY
Rnor_6.0	1	199,351,628 - 199,356,299 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	199,351,628 - 199,356,881 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	206,374,221 - 206,378,892 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	187,189,665 - 187,194,336 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	187,340,263 - 187,344,799 (+)	NCBI
Celera	1	180,166,156 - 180,170,827 (+)	NCBI		Celera
Cytogenetic Map	1	q37	NCBI

Bckdk
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955493	7,940,315 - 7,946,317 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955493	7,940,358 - 7,946,317 (+)	NCBI	ChiLan1.0	ChiLan1.0

BCKDK
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	16	39,115,733 - 39,119,970 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	23,856,349 - 23,860,586 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	31,476,917 - 31,481,193 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	31,476,917 - 31,483,639 (+)	Ensembl	panpan1.1		panPan2

BCKDK
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	17,128,615 - 17,132,925 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	17,128,824 - 17,133,585 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	18,703,976 - 18,708,295 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	17,259,506 - 17,263,825 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	17,259,509 - 17,263,938 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	17,059,901 - 17,064,220 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	16,978,760 - 16,983,079 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	17,291,152 - 17,295,471 (-)	NCBI		UU_Cfam_GSD_1.0

Bckdk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	125,369,683 - 125,373,950 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936501	13,467,305 - 13,471,858 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936501	13,467,603 - 13,471,810 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BCKDK
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	17,375,354 - 17,380,880 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	17,375,628 - 17,380,925 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	17,491,364 - 17,496,671 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BCKDK
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	27,794,963 - 27,799,239 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	27,795,083 - 27,799,410 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666068	1,668,249 - 1,672,509 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Bckdk
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624782	14,150,024 - 14,154,124 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624782	14,150,019 - 14,154,124 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in BCKDK
113 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032959]\|not provided [RCV002243680]	Chr16:31110247 [GRCh38] Chr16:31121568 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.222del (p.Met74fs)	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032960]	Chr16:31109537 [GRCh38] Chr16:31120858 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032961]	Chr16:31110716 [GRCh38] Chr16:31122037 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs)	deletion	Intellectual disability [RCV001291529]	Chr16:31110689..31110692 [GRCh38] Chr16:31122010..31122013 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.3(BCKDK):c.302G>A (p.Arg101Lys)	single nucleotide variant	Malignant melanoma [RCV000071097]	Chr16:31109710 [GRCh38] Chr16:31121031 [GRCh37] Chr16:31028532 [NCBI36] Chr16:16p11.2	not provided
NM_005881.4(BCKDK):c.1149_1163del (p.Leu386_Gln390del)	deletion	not provided [RCV000081334]	Chr16:31112172..31112186 [GRCh38] Chr16:31123493..31123507 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.615G>A (p.Thr205=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001510072]\|not provided [RCV001650950]\|not specified [RCV000116491]	Chr16:31110472 [GRCh38] Chr16:31121793 [GRCh37] Chr16:16p11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005881.4(BCKDK):c.845+10C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001086976]\|not provided [RCV000711444]\|not specified [RCV000116492]	Chr16:31111229 [GRCh38] Chr16:31122550 [GRCh37] Chr16:16p11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735204]\|not provided [RCV000724088]	Chr16:31111301 [GRCh38] Chr16:31122622 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000765289]\|not provided [RCV000173819]	Chr16:31111358 [GRCh38] Chr16:31122679 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001087829]\|not provided [RCV000174344]	Chr16:31112244 [GRCh38] Chr16:31123565 [GRCh37] Chr16:16p11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002516625]\|not provided [RCV000174345]\|not specified [RCV001657946]	Chr16:31112130 [GRCh38] Chr16:31123451 [GRCh37] Chr16:16p11.2	likely benign\|uncertain significance
NM_005881.4(BCKDK):c.*9C>T	single nucleotide variant	not provided [RCV000174346]	Chr16:31112274 [GRCh38] Chr16:31123595 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	copy number gain	See cases [RCV000133811]	Chr16:30691912..36160463 [GRCh38] Chr16:30703233..35147508 [GRCh37] Chr16:30610734..35005009 [NCBI36] Chr16:16p11.2-11.1	pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	copy number gain	See cases [RCV000135339]	Chr16:29909613..31438697 [GRCh38] Chr16:29920934..31450018 [GRCh37] Chr16:29828435..31357519 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	copy number gain	See cases [RCV000140341]	Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
NM_005881.4(BCKDK):c.716+10G>C	single nucleotide variant	not provided [RCV000152851]	Chr16:31110771 [GRCh38] Chr16:31122092 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.846-3T>A	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001334466]\|Inborn genetic diseases [RCV002516070]\|not provided [RCV000152852]	Chr16:31111297 [GRCh38] Chr16:31122618 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.47C>T (p.Pro16Leu)	single nucleotide variant	not provided [RCV000175815]	Chr16:31109270 [GRCh38] Chr16:31120591 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.669T>C (p.Thr223=)	single nucleotide variant	not specified [RCV000192549]	Chr16:31110714 [GRCh38] Chr16:31122035 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.373G>A (p.Val125Met)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000822778]\|not provided [RCV000178252]	Chr16:31109781 [GRCh38] Chr16:31121102 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1058A>G (p.Asp353Gly)	single nucleotide variant	not specified [RCV000194486]	Chr16:31111991 [GRCh38] Chr16:31123312 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.488A>G (p.Lys163Arg)	single nucleotide variant	not provided [RCV000179455]	Chr16:31110269 [GRCh38] Chr16:31121590 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001852244]\|not provided [RCV000180288]	Chr16:31110737 [GRCh38] Chr16:31122058 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4	copy number gain	Ductal breast carcinoma [RCV000207157]	Chr16:31123271..31153163 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	copy number gain	Ductal breast carcinoma [RCV000207028]	Chr16:30391304..31122666 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Ductal breast carcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
NM_005881.4(BCKDK):c.561C>A (p.Arg187=)	single nucleotide variant	not specified [RCV000252537]	Chr16:31110418 [GRCh38] Chr16:31121739 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.466C>G (p.Arg156Gly)	single nucleotide variant	not provided [RCV000317979]	Chr16:31110247 [GRCh38] Chr16:31121568 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001088887]\|Seizure [RCV001255072]\|not provided [RCV000296147]	Chr16:31111999 [GRCh38] Chr16:31123320 [GRCh37] Chr16:16p11.2	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005881.4(BCKDK):c.*9C>A	single nucleotide variant	not provided [RCV000403753]	Chr16:31112274 [GRCh38] Chr16:31123595 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1115C>T (p.Thr372Met)	single nucleotide variant	not provided [RCV000266572]	Chr16:31112141 [GRCh38] Chr16:31123462 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1120C>T (p.Arg374Trp)	single nucleotide variant	not provided [RCV000598139]	Chr16:31112146 [GRCh38] Chr16:31123467 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.721C>T (p.Leu241=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001088898]\|not provided [RCV000598266]	Chr16:31111095 [GRCh38] Chr16:31122416 [GRCh37] Chr16:16p11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
Single allele	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205]	Chr16:30554158..31536880 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.670C>T (p.Arg224Cys)	single nucleotide variant	not provided [RCV000728717]	Chr16:31110715 [GRCh38] Chr16:31122036 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000806066]	Chr16:31109416 [GRCh38] Chr16:31120737 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177)x1	copy number loss	See cases [RCV000446201]	Chr16:30943854..31171177 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_005881.4(BCKDK):c.249C>A (p.Asp83Glu)	single nucleotide variant	not provided [RCV000434422]	Chr16:31109564 [GRCh38] Chr16:31120885 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.943G>C (p.Asp315His)	single nucleotide variant	not provided [RCV000435935]	Chr16:31111876 [GRCh38] Chr16:31123197 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4	copy number gain	See cases [RCV000447708]	Chr16:30830287..31827011 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000503689]	Chr16:31110234 [GRCh38] Chr16:31121555 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.4(BCKDK):c.1233G>C (p.Arg411=)	single nucleotide variant	not specified [RCV000501907]	Chr16:31112259 [GRCh38] Chr16:31123580 [GRCh37] Chr16:16p11.2	likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	copy number loss	See cases [RCV000511906]	Chr16:30952806..31177641 [GRCh37] Chr16:16p11.2	likely pathogenic
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001463075]\|not provided [RCV000596818]	Chr16:31112211 [GRCh38] Chr16:31123532 [GRCh37] Chr16:16p11.2	likely benign\|uncertain significance
NM_005881.4(BCKDK):c.1021C>A (p.Gln341Lys)	single nucleotide variant	not provided [RCV000595691]	Chr16:31111954 [GRCh38] Chr16:31123275 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3	copy number gain	not provided [RCV000739123]	Chr16:30738551..34194635 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.1116G>A (p.Thr372=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002550573]	Chr16:31112142 [GRCh38] Chr16:31123463 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.717-5C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000966245]	Chr16:31111086 [GRCh38] Chr16:31122407 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000965327]\|not specified [RCV001288589]	Chr16:31109404 [GRCh38] Chr16:31120725 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.79C>T (p.Leu27Phe)	single nucleotide variant	not provided [RCV000996258]	Chr16:31109302 [GRCh38] Chr16:31120623 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.357C>A (p.Asn119Lys)	single nucleotide variant	not provided [RCV000996259]	Chr16:31109765 [GRCh38] Chr16:31121086 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.822G>A (p.Pro274=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001469276]	Chr16:31111196 [GRCh38] Chr16:31122517 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.588G>A (p.Ser196=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000960499]\|not provided [RCV001815463]	Chr16:31110445 [GRCh38] Chr16:31121766 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.936-10A>G	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000893473]	Chr16:31111859 [GRCh38] Chr16:31123180 [GRCh37] Chr16:16p11.2	likely benign
GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	copy number loss	not provided [RCV000848082]	Chr16:30851860..31156762 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.196-8del	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000794091]	Chr16:31109501 [GRCh38] Chr16:31120822 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV003145248]\|not provided [RCV000991895]	Chr16:31110310 [GRCh38] Chr16:31121631 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001214578]	Chr16:31111167 [GRCh38] Chr16:31122488 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1094+7C>A	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV003106468]	Chr16:31112034 [GRCh38] Chr16:31123355 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.1068T>C (p.Ser356=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001480997]	Chr16:31112001 [GRCh38] Chr16:31123322 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001244947]	Chr16:31109755 [GRCh38] Chr16:31121076 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001227743]\|Inborn genetic diseases [RCV002563119]	Chr16:31109309 [GRCh38] Chr16:31120630 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.372C>T (p.His124=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000934309]	Chr16:31109780 [GRCh38] Chr16:31121101 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.879C>A (p.Tyr293Ter)	single nucleotide variant	See cases [RCV002253080]	Chr16:31111333 [GRCh38] Chr16:31122654 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.4(BCKDK):c.845+31C>T	single nucleotide variant	not provided [RCV001655413]	Chr16:31111250 [GRCh38] Chr16:31122571 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs)	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001706906]	Chr16:31109269..31109290 [GRCh38] Chr16:31120590..31120611 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001050112]\|Inborn genetic diseases [RCV002553724]	Chr16:31111305 [GRCh38] Chr16:31122626 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001228688]	Chr16:31111943 [GRCh38] Chr16:31123264 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	pathogenic
NM_005881.4(BCKDK):c.654C>T (p.Val218=)	single nucleotide variant	not specified [RCV001663502]	Chr16:31110699 [GRCh38] Chr16:31122020 [GRCh37] Chr16:16p11.2	likely benign
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	copy number gain	not provided [RCV001258619]	Chr16:30350747..31905898 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.38G>C (p.Gly13Ala)	single nucleotide variant	not provided [RCV001288590]	Chr16:31109261 [GRCh38] Chr16:31120582 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.513G>A (p.Glu171=)	single nucleotide variant	not provided [RCV001288591]	Chr16:31110294 [GRCh38] Chr16:31121615 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1131G>A (p.Ala377=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001306265]	Chr16:31112157 [GRCh38] Chr16:31123478 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.544-8C>G	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001296917]	Chr16:31110393 [GRCh38] Chr16:31121714 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.556G>A (p.Val186Ile)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001340717]\|not provided [RCV001762568]	Chr16:31110413 [GRCh38] Chr16:31121734 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.10G>C (p.Ala4Pro)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001360102]	Chr16:31109233 [GRCh38] Chr16:31120554 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.846-3T>C	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001366572]	Chr16:31111297 [GRCh38] Chr16:31122618 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.305T>C (p.Ile102Thr)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001330141]	Chr16:31109713 [GRCh38] Chr16:31121034 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.249C>T (p.Asp83=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001517551]	Chr16:31109564 [GRCh38] Chr16:31120885 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.544-10C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001512839]	Chr16:31110391 [GRCh38] Chr16:31121712 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.716+147C>T	single nucleotide variant	not provided [RCV001694507]	Chr16:31110908 [GRCh38] Chr16:31122229 [GRCh37] Chr16:16p11.2	benign
NM_005881.4(BCKDK):c.591G>T (p.Arg197Ser)	single nucleotide variant	not provided [RCV001531853]	Chr16:31110448 [GRCh38] Chr16:31121769 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.195+10G>A	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001418232]	Chr16:31109428 [GRCh38] Chr16:31120749 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.694G>A (p.Glu232Lys)	single nucleotide variant	not provided [RCV001771049]	Chr16:31110739 [GRCh38] Chr16:31122060 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1196G>A (p.Arg399Gln)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002007998]	Chr16:31112222 [GRCh38] Chr16:31123543 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.500C>A (p.Thr167Asn)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002042374]	Chr16:31110281 [GRCh38] Chr16:31121602 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177)	copy number loss	not specified [RCV002052525]	Chr16:30943854..31171177 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.4(BCKDK):c.34G>A (p.Gly12Arg)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001974423]	Chr16:31109257 [GRCh38] Chr16:31120578 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.917A>G (p.Asp306Gly)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001866691]	Chr16:31111371 [GRCh38] Chr16:31122692 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.31C>T (p.Pro11Ser)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002027474]	Chr16:31109254 [GRCh38] Chr16:31120575 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.552G>C (p.Lys184Asn)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001904966]	Chr16:31110409 [GRCh38] Chr16:31121730 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.563A>G (p.Tyr188Cys)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001897510]	Chr16:31110420 [GRCh38] Chr16:31121741 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.120G>A (p.Val40=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV001979183]	Chr16:31109343 [GRCh38] Chr16:31120664 [GRCh37] Chr16:16p11.2	likely benign\|uncertain significance
NM_005881.4(BCKDK):c.1065T>C (p.His355=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002147848]	Chr16:31111998 [GRCh38] Chr16:31123319 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.262C>T (p.Leu88=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002072843]	Chr16:31109577 [GRCh38] Chr16:31120898 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.717-15C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002097226]	Chr16:31111076 [GRCh38] Chr16:31122397 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.78G>C (p.Ala26=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002214903]	Chr16:31109301 [GRCh38] Chr16:31120622 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.717-4G>A	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002221056]	Chr16:31111087 [GRCh38] Chr16:31122408 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.66A>T (p.Gly22=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002099307]	Chr16:31109289 [GRCh38] Chr16:31120610 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.15G>C (p.Ser5=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002203397]	Chr16:31109238 [GRCh38] Chr16:31120559 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.433C>T (p.Gln145Ter)	single nucleotide variant	not provided [RCV003129183]	Chr16:31110214 [GRCh38] Chr16:31121535 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_005881.4(BCKDK):c.1212T>C (p.Asp404=)	single nucleotide variant	not provided [RCV002262514]	Chr16:31112238 [GRCh38] Chr16:31123559 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.1159C>T (p.Gln387Ter)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002267564]	Chr16:31112185 [GRCh38] Chr16:31123506 [GRCh37] Chr16:16p11.2	pathogenic
NM_005881.4(BCKDK):c.424-1G>T	single nucleotide variant	not provided [RCV002266559]	Chr16:31110204 [GRCh38] Chr16:31121525 [GRCh37] Chr16:16p11.2	not provided
NM_005881.4(BCKDK):c.341T>C (p.Phe114Ser)	single nucleotide variant	not provided [RCV002274508]	Chr16:31109749 [GRCh38] Chr16:31121070 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.626C>T (p.Ala209Val)	single nucleotide variant	not provided [RCV002474330]	Chr16:31110483 [GRCh38] Chr16:31121804 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.645T>G (p.Pro215=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV003014211]	Chr16:31110690 [GRCh38] Chr16:31122011 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.980G>A (p.Arg327Gln)	single nucleotide variant	Inborn genetic diseases [RCV002778857]	Chr16:31111913 [GRCh38] Chr16:31123234 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.397T>C (p.Phe133Leu)	single nucleotide variant	Inborn genetic diseases [RCV002707695]	Chr16:31110098 [GRCh38] Chr16:31121419 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.289G>A (p.Glu97Lys)	single nucleotide variant	Inborn genetic diseases [RCV002950370]	Chr16:31109697 [GRCh38] Chr16:31121018 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1202G>A (p.Arg401His)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV003020825]	Chr16:31112228 [GRCh38] Chr16:31123549 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.936-11C>A	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002952626]	Chr16:31111858 [GRCh38] Chr16:31123179 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.196-4C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002867614]	Chr16:31109507 [GRCh38] Chr16:31120828 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.716+18C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002659027]	Chr16:31110779 [GRCh38] Chr16:31122100 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.384A>G (p.Leu128=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV003036560]	Chr16:31110085 [GRCh38] Chr16:31121406 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.972T>C (p.Asp324=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002982187]	Chr16:31111905 [GRCh38] Chr16:31123226 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.846-8C>T	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002982330]	Chr16:31111292 [GRCh38] Chr16:31122613 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.196C>T (p.Pro66Ser)	single nucleotide variant	Inborn genetic diseases [RCV002787763]	Chr16:31109511 [GRCh38] Chr16:31120832 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.424-18T>C	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002643551]	Chr16:31110187 [GRCh38] Chr16:31121508 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.1013C>A (p.Ala338Asp)	single nucleotide variant	Inborn genetic diseases [RCV002717443]	Chr16:31111946 [GRCh38] Chr16:31123267 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.587C>T (p.Ser196Leu)	single nucleotide variant	Inborn genetic diseases [RCV002896401]	Chr16:31110444 [GRCh38] Chr16:31121765 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.410C>A (p.Thr137Lys)	single nucleotide variant	Inborn genetic diseases [RCV002935282]	Chr16:31110111 [GRCh38] Chr16:31121432 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.172G>A (p.Ala58Thr)	single nucleotide variant	Inborn genetic diseases [RCV002879245]	Chr16:31109395 [GRCh38] Chr16:31120716 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.117C>G (p.His39Gln)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002650373]	Chr16:31109340 [GRCh38] Chr16:31120661 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.743A>G (p.Asn248Ser)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV003087324]	Chr16:31111117 [GRCh38] Chr16:31122438 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.54G>A (p.Arg18=)	single nucleotide variant	Branched-chain keto acid dehydrogenase kinase deficiency [RCV002584695]	Chr16:31109277 [GRCh38] Chr16:31120598 [GRCh37] Chr16:16p11.2	likely benign
NM_005881.4(BCKDK):c.703G>C (p.Val235Leu)	single nucleotide variant	Inborn genetic diseases [RCV003189215]	Chr16:31110748 [GRCh38] Chr16:31122069 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.364A>G (p.Ile122Val)	single nucleotide variant	not provided [RCV003223881]	Chr16:31109772 [GRCh38] Chr16:31121093 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.1217G>A (p.Arg406Gln)	single nucleotide variant	Inborn genetic diseases [RCV003172736]	Chr16:31112243 [GRCh38] Chr16:31123564 [GRCh37] Chr16:16p11.2	uncertain significance
NM_005881.4(BCKDK):c.486C>A (p.His162Gln)	single nucleotide variant	Maple syrup urine disease, mild variant [RCV003159264]	Chr16:31110267 [GRCh38] Chr16:31121588 [GRCh37] Chr16:16p11.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3758
Count of miRNA genes:	901
Interacting mature miRNAs:	1102
Transcripts:	ENST00000219794, ENST00000287507, ENST00000394950, ENST00000394951, ENST00000484226, ENST00000561755, ENST00000566568, ENST00000567530, ENST00000567676, ENST00000567682
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region

SHGC-61092

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,123,705 - 31,123,877	UniSTS	GRCh37
Build 36	16	31,031,206 - 31,031,378	RGD	NCBI36
Celera	16	29,174,150 - 29,174,322	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	28,684,879 - 28,685,051	UniSTS

RH48904

Human Assembly	Chr	Position (strand)	Source	JBrowse
Celera	16	29,178,263 - 29,178,384	RGD
Cytogenetic Map	16	p11.2	UniSTS

BCKDK_9086

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,123,480 - 31,124,098	UniSTS	GRCh37
Build 36	16	31,030,981 - 31,031,599	RGD	NCBI36
Celera	16	29,173,929 - 29,174,547	RGD
HuRef	16	28,684,654 - 28,685,272	UniSTS

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

2433

2895

1714

618

1873

459

4355

2127

3231

412

1453

1611

175

1204

2786

Low

503

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001122957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001271926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017022859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054379382	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC135050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF026548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM679327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX427330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR542093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000219794 ⟹ ENSP00000219794

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,386 - 31,112,791 (+)	Ensembl

RefSeq Acc Id:

ENST00000287507 ⟹ ENSP00000287507

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,294 - 31,112,567 (+)	Ensembl

RefSeq Acc Id:

ENST00000394950 ⟹ ENSP00000378404

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,294 - 31,112,567 (+)	Ensembl

RefSeq Acc Id:

ENST00000394951 ⟹ ENSP00000378405

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,106,107 - 31,112,567 (+)	Ensembl

RefSeq Acc Id:

ENST00000484226 ⟹ ENSP00000457226

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,109,120 - 31,110,722 (+)	Ensembl

RefSeq Acc Id:

ENST00000561755 ⟹ ENSP00000455866

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,484 - 31,109,403 (+)	Ensembl

RefSeq Acc Id:

ENST00000566568

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,449 - 31,112,566 (+)	Ensembl

RefSeq Acc Id:

ENST00000567530 ⟹ ENSP00000456479

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,294 - 31,112,533 (+)	Ensembl

RefSeq Acc Id:

ENST00000567676 ⟹ ENSP00000454947

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,108,934 - 31,109,579 (+)	Ensembl

RefSeq Acc Id:

ENST00000567682 ⟹ ENSP00000457821

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	31,111,368 - 31,112,454 (+)	Ensembl

RefSeq Acc Id:

NM_001122957 ⟹ NP_001116429

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,112,838 (+)	NCBI
Celera	16	29,173,915 - 29,178,365 (-)	RGD
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI
T2T-CHM13v2.0	16	31,495,847 - 31,500,299 (+)	NCBI

Sequence:

show sequence

GTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCTGGCGAGTGGACTGTTCGAGCCCTTCCGC
TGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGAGCTGCTCTCCGCGGGCTGAGCCTGTCAG
CATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAAGAGCCCCTACCCACCCACACCCCCTTGC
CCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGGATCCTCAGTCCTAGCGGCCACCGGGTCT
GAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCTTCCGC
TCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACCGACACACA
CCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGGCCATC
GACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACGCCCACCATGATGCTCTACGCTGGCCGCT
CTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTGAGGAT
TGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCATACTG
CACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCTCCGATCAAGGACC
AGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGATGTGGT
GACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAAGCACATAGAGGATGAAAAGCTCGTCCGC
TACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCACCTGG
CGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAGAAGAT
TATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAGTATGGCAATGCGCCCCGT
GTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTACATCC
TGCCGGAGCTGCTCAAGAATGCCATGAGAGCCACAATGGAGAGTCACCTAGACACTCCCTACAA
TGTCCCAGATGTGGTCATCACCATCGCCAACAATGATGTCGATCTGATCATCAGGATCTCAGAC
CGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTACTGCTG
AGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGCCATCTGGACATGCATAGTGGCGC
CCAGTCAGGACCCATGCACGGGTGAGACCCTGCCAGGCCAGGATGGAGGGGTGGGGGACCCCAG
GAGACTCAAGCCTCTGAAGCCTCCTGTCCTGTCCCCCTGCCCACCCCCAGCTTTGGCTTCGGGT
TGCCCACGTCACGGGCCTACGCGGAGTACCTCGGTGGGTCTCTGCAGCTGCAGTCCCTGCAGGG
CATTGGCACGGACGTCTACCTGCGGCTCCGCCACATCGATGGCCGGGAGGAAAGCTTCCGGATC
TGACCCCACAGCCTTTGGCCTGCTCACCCGACCAGCCTGGGCCGCATTCCCTGCAGGACCTCCC
GGGTCAGGCAGGGCGGCCCCCTGCTCCACACACTGCTGCATCTTGGGTCTCAGGGACCCAGACA
GATGGACTTACATGGAGCTGGGCACTGCCCTGCCTCAACAGGGTCCATTGCCTCCTCGCCTCCA
GAACTTGGAGCAGGGAAGTGGGCACCCTGAGGCCTCCAGCACCAGTTCCGTCATTCTCGTTCCT
GGGGAACCCCCACTCTGACCTGTTATTAAAGTTCACATTTTGAATGCCCTCTCGGGCCCCGTGT
GTGGGGAGGGCAGGTGAACTTTTGTTTCTGCCCCCATTCAGGTTCACTGAGCCCTTGGGTTGAA
CTGGTTCGTGTCCCAGTCTCTTACCTGCCCTGAGAGCCTGGCAGGCCAGGAGTAGAATGGGTCC
CAAGTCTGTTGCATGTTTGATTTGGTGGGAGTGGGATGACTGCAGCACCTTATACAAAGAGCTT
TCATTCATCTTGTTGAACAAATGTTTCCGGGTCCCAGATAATATTGAAGGCCCAGACTGACCCA

hide sequence

RefSeq Acc Id:

NM_001271926 ⟹ NP_001258855

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,112,838 (+)	NCBI
GRCh37	16	31,119,615 - 31,124,112 (+)	NCBI
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI
T2T-CHM13v2.0	16	31,495,847 - 31,500,299 (+)	NCBI

Sequence:

show sequence

GTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCTGGCGAGTGGACTGTTCGAGCCCTTCCGC
TGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGAGCTGCTCTCCGCGGGCTGAGCCTGTCAG
CATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAAGAGCCCCTACCCACCCACACCCCCTTGC
CCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGGATCCTCAGTCCTAGCGGCCACCGGGTCT
GAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCTTCCGC
TCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACCGACACACA
CCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGGCCATC
GACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACGCCCACCATGATGCTCTACGCTGGCCGCT
CTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTGAGGAT
TGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCATACTG
CACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCTCCGATCAAGGACC
AGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGATGTGGT
GACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAAGCACATAGAGGATGAAAAGCTCGTCCGC
TACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCACCTGG
CGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAGAAGAT
TATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAGTATGGCAATGCGCCCCGT
GTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTACATCC
TGCCGGAGCTGCTCAAGAATGCCATGAGGATCTCAGACCGTGGTGGAGGAATCGCTCACAAAGA
TCTGGACCGGGTCATGGACTACCACTTCACTACTGCTGAGGCCAGCACACAGGACCCCCGGATC
AGCCCCCTCTTTGGCCATCTGGACATGCATAGTGGCGCCCAGTCAGGACCCATGCACGGGTGAG
ACCCTGCCAGGCCAGGATGGAGGGGTGGGGGACCCCAGGAGACTCAAGCCTCTGAAGCCTCCTG
TCCTGTCCCCCTGCCCACCCCCAGCTTTGGCTTCGGGTTGCCCACGTCACGGGCCTACGCGGAG
TACCTCGGTGGGTCTCTGCAGCTGCAGTCCCTGCAGGGCATTGGCACGGACGTCTACCTGCGGC
TCCGCCACATCGATGGCCGGGAGGAAAGCTTCCGGATCTGACCCCACAGCCTTTGGCCTGCTCA
CCCGACCAGCCTGGGCCGCATTCCCTGCAGGACCTCCCGGGTCAGGCAGGGCGGCCCCCTGCTC
CACACACTGCTGCATCTTGGGTCTCAGGGACCCAGACAGATGGACTTACATGGAGCTGGGCACT
GCCCTGCCTCAACAGGGTCCATTGCCTCCTCGCCTCCAGAACTTGGAGCAGGGAAGTGGGCACC
CTGAGGCCTCCAGCACCAGTTCCGTCATTCTCGTTCCTGGGGAACCCCCACTCTGACCTGTTAT
TAAAGTTCACATTTTGAATGCCCTCTCGGGCCCCGTGTGTGGGGAGGGCAGGTGAACTTTTGTT
TCTGCCCCCATTCAGGTTCACTGAGCCCTTGGGTTGAACTGGTTCGTGTCCCAGTCTCTTACCT
GCCCTGAGAGCCTGGCAGGCCAGGAGTAGAATGGGTCCCAAGTCTGTTGCATGTTTGATTTGGT
GGGAGTGGGATGACTGCAGCACCTTATACAAAGAGCTTTCATTCATCTTGTTGAACAAATGTTT
CCGGGTCCCAGATAATATTGAAGGCCCAGACTGACCCA

hide sequence

RefSeq Acc Id:

NM_005881 ⟹ NP_005872

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,112,791 (+)	NCBI
GRCh37	16	31,119,615 - 31,124,112 (+)	NCBI
Build 36	16	31,027,223 - 31,031,422 (+)	NCBI Archive
Celera	16	29,173,915 - 29,178,365 (-)	RGD
HuRef	16	28,680,789 - 28,685,286 (+)	NCBI
CHM1_1	16	32,437,335 - 32,441,832 (+)	NCBI
T2T-CHM13v2.0	16	31,495,847 - 31,500,252 (+)	NCBI

Sequence:

show sequence

GTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCTGGCGAGTGGACTGTTCGAGCCCTTCCGC
TGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGAGCTGCTCTCCGCGGGCTGAGCCTGTCAG
CATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAAGAGCCCCTACCCACCCACACCCCCTTGC
CCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGGATCCTCAGTCCTAGCGGCCACCGGGTCT
GAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCTTCCGC
TCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACCGACACACA
CCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGGCCATC
GACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACGCCCACCATGATGCTCTACGCTGGCCGCT
CTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTGAGGAT
TGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCATACTG
CACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCTCCGATCAAGGACC
AGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGATGTGGT
GACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAAGCACATAGAGGATGAAAAGCTCGTCCGC
TACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCACCTGG
CGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAGAAGAT
TATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAGTATGGCAATGCGCCCCGT
GTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTACATCC
TGCCGGAGCTGCTCAAGAATGCCATGAGAGCCACAATGGAGAGTCACCTAGACACTCCCTACAA
TGTCCCAGATGTGGTCATCACCATCGCCAACAATGATGTCGATCTGATCATCAGGATCTCAGAC
CGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTACTGCTG
AGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGCCATCTGGACATGCATAGTGGCGC
CCAGTCAGGACCCATGCACGGCTTTGGCTTCGGGTTGCCCACGTCACGGGCCTACGCGGAGTAC
CTCGGTGGGTCTCTGCAGCTGCAGTCCCTGCAGGGCATTGGCACGGACGTCTACCTGCGGCTCC
GCCACATCGATGGCCGGGAGGAAAGCTTCCGGATCTGACCCCACAGCCTTTGGCCTGCTCACCC
GACCAGCCTGGGCCGCATTCCCTGCAGGACCTCCCGGGTCAGGCAGGGCGGCCCCCTGCTCCAC
ACACTGCTGCATCTTGGGTCTCAGGGACCCAGACAGATGGACTTACATGGAGCTGGGCACTGCC
CTGCCTCAACAGGGTCCATTGCCTCCTCGCCTCCAGAACTTGGAGCAGGGAAGTGGGCACCCTG
AGGCCTCCAGCACCAGTTCCGTCATTCTCGTTCCTGGGGAACCCCCACTCTGACCTGTTATTAA
AGTTCACATTTTGAATGCCCTCTCGGGCCCCGTGTGTGGGGAGGGCAGGTGAACTTTTGTTTCT
GCCCCCATTCAGGTTCACTGAGCCCTTGGGTTGAACTGGTTCGTGTCCCAGTCTCTTACCTGCC
CTGAGAGCCTGGCAGGCCAGGAGTAGAATGGGTCCCAAGTCTGTTGCATGTTTGATTTGGTGGG
AGTGGGATGACTGCAGCACCTTATACAAAGAGCTTTCATTCATCTTGTTGAA

hide sequence

RefSeq Acc Id:

XM_017022859 ⟹ XP_016878348

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,117,640 (+)	NCBI

Sequence:

show sequence

GCGACGTCACGGCGGCGGAGGGCGCAGGCGGCTGGGCGCCTGGCGAGTGGACTGTTCGAGCCCT
TCCGCTGGGACCCGGGCCCTGGCTCCGGCCCCGCGATGGGAGCTGCTCTCCGCGGGCTGAGCCT
GTCAGCATCCTCGACGCACCCTGGTCCCTGAAGTCGGAGAAGAGCCCCTACCCACCCACACCCC
CTTGCCCCATTTTGGGTCGCCTGGGTCCTCAGTCCTAGCGGATCCTCAGTCCTAGCGGCCACCG
GGTCTGAAAGGAGCAAGACGATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCT
TCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACCGAC
ACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGG
CCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACGCCCACCATGATGCTCTACGCTGG
CCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTG
AGGATTGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCA
TACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCTCCGATCAA
GGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGAT
GTGGTGACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAAGCACATAGAGGATGAAAAGCTCG
TCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCA
CCTGGCGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAG
AAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAGTATGGCAATGCGC
CCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTA
CATCCTGCCGGAGCTGCTCAAGAATGCCATGAGAGCCACAATGGAGAGTCACCTAGACACTCCC
TACAATGTCCCAGATGTGGTCATCACCATCGCCAACAATGATGTCGATCTGATCATCAGGATCT
CAGACCGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTAC
TGCTGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGCCATCTGGACATGCATAGT
GGCGCCCAGTCAGGACCCATGCACGGGCTGCAGCCACAGGTCCGCACGGAAAACCAGGAGCTCC
AAGACTGCCGCACACTCAACATCCAACTCGCGGGGCCGCGGGGACGGCCACAGAAGCCAATCGG
CTCCTGCTACATCACAGACCCCGCCCTCAAACCTTGAGGAGCCCGCCCCACGCACTGCTGACCC
GGAGCCAAAAGAACTGCGTGGCG

hide sequence

RefSeq Acc Id:

XM_054379382 ⟹ XP_054235357

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	31,495,847 - 31,505,117 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001116429	(Get FASTA)	NCBI Sequence Viewer
	NP_001258855	(Get FASTA)	NCBI Sequence Viewer
	NP_005872	(Get FASTA)	NCBI Sequence Viewer
	XP_016878348	(Get FASTA)	NCBI Sequence Viewer
	XP_054235357	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB82714	(Get FASTA)	NCBI Sequence Viewer
	AAH07363	(Get FASTA)	NCBI Sequence Viewer
	AAH09872	(Get FASTA)	NCBI Sequence Viewer
	BAG57850	(Get FASTA)	NCBI Sequence Viewer
	CAG46890	(Get FASTA)	NCBI Sequence Viewer
	EAW52160	(Get FASTA)	NCBI Sequence Viewer
	EAW52161	(Get FASTA)	NCBI Sequence Viewer
	EAW52162	(Get FASTA)	NCBI Sequence Viewer
	EAW52163	(Get FASTA)	NCBI Sequence Viewer
	EAW52164	(Get FASTA)	NCBI Sequence Viewer
	O14874	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001116429 ⟸ NM_001122957
- Peptide Label:	isoform b precursor
- UniProtKB:	O14874 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING HVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG hide sequence

RefSeq Acc Id:	NP_005872 ⟸ NM_005881
- Peptide Label:	isoform a precursor
- UniProtKB:	Q96IN5 (UniProtKB/Swiss-Prot), O14874 (UniProtKB/Swiss-Prot), A0A024QZA9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING HVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSL QLQSLQGIGTDVYLRLRHIDGREESFRI hide sequence

RefSeq Acc Id:	NP_001258855 ⟸ NM_001271926
- Peptide Label:	isoform c
- UniProtKB:	O14874 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING HVAARFPFIPMPLDYILPELLKNAMRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFG HLDMHSGAQSGPMHG hide sequence

RefSeq Acc Id:

XP_016878348 ⟸ XM_017022859

- Peptide Label:

isoform X1

- Sequence:

show sequence

MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAE
KPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHEL
YIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDK
TLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRING
HVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGLQPQVRTENQELQDCRTLN
IQLAGPRGRPQKPIGSCYITDPALKP

hide sequence

RefSeq Acc Id:

ENSP00000219794 ⟸ ENST00000219794

RefSeq Acc Id:

ENSP00000455866 ⟸ ENST00000561755

RefSeq Acc Id:

ENSP00000287507 ⟸ ENST00000287507

RefSeq Acc Id:

ENSP00000457226 ⟸ ENST00000484226

RefSeq Acc Id:

ENSP00000378404 ⟸ ENST00000394950

RefSeq Acc Id:

ENSP00000378405 ⟸ ENST00000394951

RefSeq Acc Id:

ENSP00000454947 ⟸ ENST00000567676

RefSeq Acc Id:

ENSP00000457821 ⟸ ENST00000567682

RefSeq Acc Id:

ENSP00000456479 ⟸ ENST00000567530

RefSeq Acc Id:	XP_054235357 ⟸ XM_054379382
- Peptide Label:	isoform X1

Protein Domains

Branched-chain alpha-ketoacid dehydrogenase Histidine kinase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O14874-F1-model_v2	AlphaFold	O14874	1-412	view protein structure

Promoters

RGD ID:

6793010

Promoter ID:

HG_KWN:23600

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000394951

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,024,501 - 31,025,001 (+)	MPROMDB

RGD ID:

6793012

Promoter ID:

HG_KWN:23601

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:

ENST00000394950, ENST00000394952, OTTHUMT00000108511, OTTHUMT00000108515, UC010CAH.1, UC010CAI.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,026,551 - 31,027,262 (+)	MPROMDB

RGD ID:

6851330

Promoter ID:

EP73463

Type:

initiation region

Name:

HS_BCKDK

Description:

Branched chain alpha-ketoacid dehydrogenase kinase.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,027,208 - 31,027,268	EPD

RGD ID:

6814573

Promoter ID:

HG_XEF:3021

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

NM_001091543, NM_213060

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,027,941 - 31,028,441 (+)	MPROMDB

RGD ID:

7232075

Promoter ID:

EPDNEW_H21783

Type:

initiation region

Name:

BCKDK_1

Description:

branched chain ketoacid dehydrogenase kinase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,108,386 - 31,108,446	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16902	AgrOrtholog
COSMIC	BCKDK	COSMIC
Ensembl Genes	ENSG00000103507	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000219794	ENTREZGENE
	ENSP00000219794.6	UniProtKB/Swiss-Prot
	ENSP00000287507	ENTREZGENE
	ENSP00000287507.3	UniProtKB/Swiss-Prot
	ENSP00000378404	ENTREZGENE
	ENSP00000378404.3	UniProtKB/Swiss-Prot
	ENSP00000378405.1	UniProtKB/Swiss-Prot
	ENSP00000454947.1	UniProtKB/TrEMBL
	ENSP00000455866.1	UniProtKB/TrEMBL
	ENSP00000456479.1	UniProtKB/TrEMBL
	ENSP00000457226.1	UniProtKB/TrEMBL
	ENSP00000457821.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000219794	ENTREZGENE
	ENST00000219794.11	UniProtKB/Swiss-Prot
	ENST00000287507	ENTREZGENE
	ENST00000287507.7	UniProtKB/Swiss-Prot
	ENST00000394950	ENTREZGENE
	ENST00000394950.7	UniProtKB/Swiss-Prot
	ENST00000394951.5	UniProtKB/Swiss-Prot
	ENST00000484226.2	UniProtKB/TrEMBL
	ENST00000561755.1	UniProtKB/TrEMBL
	ENST00000567530.5	UniProtKB/TrEMBL
	ENST00000567676.1	UniProtKB/TrEMBL
	ENST00000567682.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.140.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.565.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000103507	GTEx
HGNC ID	HGNC:16902	ENTREZGENE
Human Proteome Map	BCKDK	Human Proteome Map
InterPro	AK/P_DHK_N_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BCDHK/PDK_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BCKD/PDK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_C_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	His_kinase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sig_transdc_His_kin-like_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10295	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	10295	ENTREZGENE
OMIM	614901	OMIM
PANTHER	[3-METHYL-2-OXOBUTANOATE DEHYDROGENASE [LIPOAMIDE]] KINASE, MITOCHONDRIAL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11947	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	BCDHK_Adom3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HATPase_c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134899581	PharmGKB
PRINTS	BCTRLSENSOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	HIS_KIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HATPase_c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF55874	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF69012	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024QZA9	ENTREZGENE, UniProtKB/TrEMBL
	BCKD_HUMAN	UniProtKB/Swiss-Prot
	H3BNP3_HUMAN	UniProtKB/TrEMBL
	H3BQP2_HUMAN	UniProtKB/TrEMBL
	H3BS02_HUMAN	UniProtKB/TrEMBL
	H3BTL2_HUMAN	UniProtKB/TrEMBL
	H3BUV3_HUMAN	UniProtKB/TrEMBL
	O14874	ENTREZGENE
	Q96IN5	ENTREZGENE
UniProt Secondary	A8MY43	UniProtKB/Swiss-Prot
	Q6FGL4	UniProtKB/Swiss-Prot
	Q96G95	UniProtKB/Swiss-Prot
	Q96IN5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-04-30	BCKDK	branched chain keto acid dehydrogenase kinase		branched chain ketoacid dehydrogenase kinase	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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