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Gene: ABHD16A (abhydrolase domain containing 16A, phospholipase) Homo sapiens

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Symbol:

ABHD16A

Name:

abhydrolase domain containing 16A, phospholipase

RGD ID:

1351609

HGNC Page

HGNC:13921

Description:

Enables monoacylglycerol lipase activity. Involved in monoacylglycerol catabolic process and prostaglandin catabolic process. Predicted to be located in membrane. Implicated in hereditary spastic paraplegia 86.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

abhydrolase domain containing 16A; abhydrolase domain-containing protein 16A; alpha/beta hydrolase domain-containing protein 16A; BAT5; D6S82E; hBAT5; HLA-B associated transcript 5; monoacylglycerol lipase ABHD16A; NG26; phosphatidylserine lipase ABHD16A; PP199; protein G5; SPG86

RGD Orthologs

Alliance Orthologs

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	6	31,686,955 - 31,703,324 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	31,686,955 - 31,703,356 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	31,654,732 - 31,671,101 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	31,762,715 - 31,779,067 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	31,762,714 - 31,779,067	NCBI
Celera	6	33,252,945 - 33,269,362 (-)	NCBI		Celera
Cytogenetic Map	6	p21.33	NCBI
HuRef	6	31,440,951 - 31,457,370 (-)	NCBI		HuRef
CHM1_1	6	31,656,862 - 31,673,273 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	31,539,989 - 31,556,359 (-)	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

genetic disease (IAGP)

hereditary spastic paraplegia (IAGP)

hereditary spastic paraplegia 86 (IAGP)

megacolon (IAGP)

Neurodevelopmental Disorders (IAGP)

paraplegia (IAGP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

acrolein (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

alpha-pinene (EXP)

amitrole (ISO)

antirheumatic drug (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

bortezomib (EXP)

caffeine (EXP)

CGP 52608 (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

coumestrol (EXP)

Dibutyl phosphate (EXP)

doxorubicin (EXP)

ethanol (ISO)

finasteride (ISO)

fulvestrant (EXP)

glyphosate (ISO)

hypochlorous acid (ISO)

ivermectin (EXP)

ketamine (ISO)

methimazole (ISO)

orlistat (EXP)

ozone (EXP,ISO)

paracetamol (EXP)

perfluorohexanesulfonic acid (ISO)

pirinixic acid (ISO)

propiconazole (ISO)

sodium fluoride (ISO)

sulindac (ISO)

temozolomide (EXP)

thapsigargin (ISO)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

lipid metabolic process (IEA)

monoacylglycerol catabolic process (IBA,IDA,IEA)

phosphatidylserine catabolic process (IBA,IEA,ISS)

prostaglandin catabolic process (IDA,IEA)

Cellular Component

membrane (IEA)

Molecular Function

hydrolase activity (IEA)

lysophospholipase activity (IDA)

monoacylglycerol lipase activity (IBA,IDA,IEA)

phospholipase activity (IBA,IEA,ISS)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Absent speech (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Babinski sign (IAGP)

Bilateral talipes equinovarus (IAGP)

Choreoathetosis (IAGP)

Distal muscle weakness (IAGP)

Febrile seizure (within the age range of 3 months to 6 years) (IAGP)

Global developmental delay (IAGP)

Hyperreflexia (IAGP)

Inability to walk (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Megacolon (IAGP)

Neonatal onset (IAGP)

Periventricular white matter hyperintensities (IAGP)

Scoliosis (IAGP)

Spastic paraplegia (IAGP)

Talipes equinovalgus (IAGP)

Thin corpus callosum (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2813433	PMID:2911734	PMID:12477932	PMID:12665801	PMID:14574404	PMID:14656967	PMID:14667819	PMID:14702039	PMID:15231747	PMID:15342556	PMID:15489334	PMID:15498874
PMID:17461779	PMID:18835879	PMID:19115949	PMID:19116923	PMID:19423540	PMID:19851445	PMID:20406964	PMID:20438785	PMID:20626023	PMID:20706999	PMID:21044367	PMID:21516116
PMID:21873635	PMID:22658674	PMID:25290914	PMID:25416956	PMID:25580854	PMID:26186194	PMID:26496610	PMID:27375898	PMID:28514442	PMID:29180619	PMID:29794032	PMID:29892012
PMID:31515488	PMID:32296183	PMID:32462874	PMID:33845483	PMID:33961781	PMID:34587489	PMID:34866177	PMID:35337019	PMID:36215168	PMID:36217029	PMID:36949045

Genomics

Comparative Map Data

ABHD16A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	31,686,955 - 31,703,324 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	31,686,955 - 31,703,356 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	31,654,732 - 31,671,101 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	31,762,715 - 31,779,067 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	31,762,714 - 31,779,067	NCBI
Celera	6	33,252,945 - 33,269,362 (-)	NCBI		Celera
Cytogenetic Map	6	p21.33	NCBI
HuRef	6	31,440,951 - 31,457,370 (-)	NCBI		HuRef
CHM1_1	6	31,656,862 - 31,673,273 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	31,539,989 - 31,556,359 (-)	NCBI		T2T-CHM13v2.0

Abhd16a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	35,308,210 - 35,321,963 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	35,308,239 - 35,321,963 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	35,089,234 - 35,102,987 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	35,089,263 - 35,102,987 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	35,226,236 - 35,239,932 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	34,697,347 - 34,711,043 (+)	NCBI		MGSCv36	mm8
Celera	17	38,185,979 - 38,199,670 (+)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	18.59	NCBI

Abhd16a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	3,723,756 - 3,738,617 (-)	NCBI		GRCr8
mRatBN7.2	20	3,719,089 - 3,733,952 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	3,719,091 - 3,733,927 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	4,418,104 - 4,433,262 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	3,780,160 - 3,795,318 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	4,318,217 - 4,333,175 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	5,080,070 - 5,094,935 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	5,080,070 - 5,094,935 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	7,153,000 - 7,168,193 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	3,782,759 - 3,797,620 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	3,782,984 - 3,797,821 (-)	NCBI
Celera	20	4,291,911 - 4,306,777 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Abhd16a
(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_004955437	227,407 - 241,830 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	227,407 - 241,702 (-)	NCBI	ChiLan1.0	ChiLan1.0

ABHD16A
(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-v2	5	46,164,503 - 46,180,725 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	42,126,016 - 42,142,219 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	31,348,640 - 31,364,777 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	32,238,872 - 32,253,856 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	32,238,872 - 32,253,856 (-)	Ensembl	panpan1.1		panPan2

ABHD16A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	1,167,723 - 1,182,520 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	1,167,721 - 1,182,453 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	1,304,284 - 1,319,089 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	1,313,091 - 1,327,889 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	1,313,089 - 1,328,210 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	1,172,393 - 1,187,217 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	1,239,568 - 1,254,388 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	1,306,774 - 1,321,843 (-)	NCBI		UU_Cfam_GSD_1.0

Abhd16a
(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_024404946	35,716,402 - 35,732,375 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936727	1,828,905 - 1,844,967 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936727	1,828,966 - 1,843,334 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ABHD16A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	23,800,932 - 23,814,947 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	23,800,932 - 23,814,920 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	27,448,853 - 27,451,015 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ABHD16A
(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	17	40,320,749 - 40,336,922 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	40,320,878 - 40,336,720 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	31,598,745 - 31,614,930 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Abhd16a
(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_004624754	24,505,606 - 24,520,092 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	24,505,572 - 24,520,092 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ABHD16A
46 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
NM_021160.3(ABHD16A):c.1307+8_1307+11dup	microsatellite	not provided [RCV003312646]	Chr6:31688237..31688238 [GRCh38] Chr6:31656014..31656015 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.1236G>A (p.Ala412=)	single nucleotide variant	not provided [RCV003312647]	Chr6:31688737 [GRCh38] Chr6:31656514 [GRCh37] Chr6:6p21.33	benign
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3	copy number gain	See cases [RCV000448679]	Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_021160.3(ABHD16A):c.459C>A (p.Phe153Leu)	single nucleotide variant	Inborn genetic diseases [RCV003244080]	Chr6:31693403 [GRCh38] Chr6:31661180 [GRCh37] Chr6:6p21.33	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3	copy number gain	not provided [RCV000745592]	Chr6:28130359..32108367 [GRCh37] Chr6:6p22.1-21.32	uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	copy number gain	not provided [RCV001005791]	Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31	likely pathogenic
NC_000006.11:g.(?_30695893)_(31937492_?)dup	duplication	not provided [RCV003107453]	Chr6:30695893..31937492 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1370G>A (p.Arg457Gln)	single nucleotide variant	Complex hereditary spastic paraplegia [RCV001568339]\|Spastic paraplegia 86, autosomal recessive [RCV001826349]	Chr6:31688041 [GRCh38] Chr6:31655818 [GRCh37] Chr6:6p21.33	pathogenic
NM_021160.3(ABHD16A):c.340C>T (p.Arg114Ter)	single nucleotide variant	Complex hereditary spastic paraplegia [RCV001568340]\|Spastic paraplegia 86, autosomal recessive [RCV001826350]	Chr6:31700945 [GRCh38] Chr6:31668722 [GRCh37] Chr6:6p21.33	pathogenic
NM_021160.3(ABHD16A):c.1226T>G (p.Leu409Arg)	single nucleotide variant	Spastic paraplegia 86, autosomal recessive [RCV001827482]\|Spastic paraplegia [RCV001720321]	Chr6:31688747 [GRCh38] Chr6:31656524 [GRCh37] Chr6:6p21.33	pathogenic\|uncertain significance
NM_021160.3(ABHD16A):c.1456del (p.Tyr486fs)	deletion	Autosomal recessive complex spastic paraplegia [RCV001723249]	Chr6:31687732 [GRCh38] Chr6:31655509 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_021160.3(ABHD16A):c.353G>A (p.Arg118His)	single nucleotide variant	Spastic paraplegia 86, autosomal recessive [RCV001827481]\|Spastic paraplegia [RCV001720320]	Chr6:31697024 [GRCh38] Chr6:31664801 [GRCh37] Chr6:6p21.33	pathogenic\|uncertain significance
NM_021160.3(ABHD16A):c.1333C>T (p.Arg445Ter)	single nucleotide variant	Spastic paraplegia [RCV001720322]	Chr6:31688078 [GRCh38] Chr6:31655855 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.573del (p.Thr192fs)	deletion	Spastic paraplegia [RCV001720323]	Chr6:31693080 [GRCh38] Chr6:31660857 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.362A>T (p.Asn121Ile)	single nucleotide variant	Spastic paraplegia 86, autosomal recessive [RCV001827483]\|Spastic paraplegia [RCV001720324]	Chr6:31697015 [GRCh38] Chr6:31664792 [GRCh37] Chr6:6p21.33	pathogenic\|uncertain significance
NM_021160.3(ABHD16A):c.755G>A (p.Arg252Gln)	single nucleotide variant	Spastic paraplegia [RCV001720325]	Chr6:31691667 [GRCh38] Chr6:31659444 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.742T>A (p.Cys248Ser)	single nucleotide variant	Inborn genetic diseases [RCV004683822]	Chr6:31691680 [GRCh38] Chr6:31659457 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.461G>A (p.Arg154Gln)	single nucleotide variant	Inborn genetic diseases [RCV002901090]	Chr6:31693401 [GRCh38] Chr6:31661178 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.19T>C (p.Cys7Arg)	single nucleotide variant	Neurodevelopmental disorder [RCV002277676]	Chr6:31703263 [GRCh38] Chr6:31671040 [GRCh37] Chr6:6p21.33	uncertain significance
NC_000006.11:g.28005012_31683185del	deletion	Megacolon [RCV001290055]	Chr6:28005012..31683185 [GRCh37] Chr6:6p22.1-21.33	likely pathogenic
GRCh37/hg19 6p21.33(chr6:31384577-31902308)	copy number gain	not specified [RCV002053564]	Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.835C>T (p.Gln279Ter)	single nucleotide variant	Spastic paraplegia 86, autosomal recessive [RCV001834545]	Chr6:31691587 [GRCh38] Chr6:31659364 [GRCh37] Chr6:6p21.33	pathogenic
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_021160.3(ABHD16A):c.751C>T (p.Arg251Cys)	single nucleotide variant	Inborn genetic diseases [RCV003262356]	Chr6:31691671 [GRCh38] Chr6:31659448 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1453A>G (p.Ile485Val)	single nucleotide variant	Inborn genetic diseases [RCV002779488]	Chr6:31687735 [GRCh38] Chr6:31655512 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.539T>C (p.Val180Ala)	single nucleotide variant	Inborn genetic diseases [RCV002732076]	Chr6:31693114 [GRCh38] Chr6:31660891 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.71G>C (p.Arg24Thr)	single nucleotide variant	Inborn genetic diseases [RCV002777970]	Chr6:31703211 [GRCh38] Chr6:31670988 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.352C>T (p.Arg118Cys)	single nucleotide variant	Inborn genetic diseases [RCV002687818]	Chr6:31697025 [GRCh38] Chr6:31664802 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1573C>T (p.Arg525Trp)	single nucleotide variant	Inborn genetic diseases [RCV002692269]	Chr6:31687518 [GRCh38] Chr6:31655295 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1448-4C>G	single nucleotide variant	Inborn genetic diseases [RCV002803268]	Chr6:31687744 [GRCh38] Chr6:31655521 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1501C>T (p.Arg501Cys)	single nucleotide variant	Inborn genetic diseases [RCV002873295]	Chr6:31687687 [GRCh38] Chr6:31655464 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.652C>T (p.Arg218Cys)	single nucleotide variant	Inborn genetic diseases [RCV002875386]	Chr6:31691893 [GRCh38] Chr6:31659670 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1334G>A (p.Arg445Gln)	single nucleotide variant	Inborn genetic diseases [RCV002641191]	Chr6:31688077 [GRCh38] Chr6:31655854 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1636C>T (p.Pro546Ser)	single nucleotide variant	Inborn genetic diseases [RCV002960507]	Chr6:31687253 [GRCh38] Chr6:31655030 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.373C>T (p.Arg125Trp)	single nucleotide variant	Inborn genetic diseases [RCV003195767]	Chr6:31697004 [GRCh38] Chr6:31664781 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.655C>T (p.Arg219Trp)	single nucleotide variant	Inborn genetic diseases [RCV003184580]	Chr6:31691890 [GRCh38] Chr6:31659667 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.374G>A (p.Arg125Gln)	single nucleotide variant	Inborn genetic diseases [RCV003174140]	Chr6:31697003 [GRCh38] Chr6:31664780 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.523C>T (p.Pro175Ser)	single nucleotide variant	Inborn genetic diseases [RCV003215667]	Chr6:31693130 [GRCh38] Chr6:31660907 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1465T>C (p.Trp489Arg)	single nucleotide variant	ABHD16A-related disorder [RCV003405779]	Chr6:31687723 [GRCh38] Chr6:31655500 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.551G>T (p.Arg184Leu)	single nucleotide variant	not provided [RCV003431759]	Chr6:31693102 [GRCh38] Chr6:31660879 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.260A>G (p.Tyr87Cys)	single nucleotide variant	Spastic paraplegia 86, autosomal recessive [RCV003458943]	Chr6:31701025 [GRCh38] Chr6:31668802 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1381G>C (p.Val461Leu)	single nucleotide variant	Inborn genetic diseases [RCV004422985]	Chr6:31687890 [GRCh38] Chr6:31655667 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1528G>A (p.Asp510Asn)	single nucleotide variant	Inborn genetic diseases [RCV004422990]	Chr6:31687660 [GRCh38] Chr6:31655437 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.233C>T (p.Ala78Val)	single nucleotide variant	Inborn genetic diseases [RCV004422994]	Chr6:31701297 [GRCh38] Chr6:31669074 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.407G>A (p.Arg136Gln)	single nucleotide variant	Inborn genetic diseases [RCV004423005]	Chr6:31696970 [GRCh38] Chr6:31664747 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.100A>G (p.Thr34Ala)	single nucleotide variant	Inborn genetic diseases [RCV004422974]	Chr6:31703182 [GRCh38] Chr6:31670959 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.85G>C (p.Val29Leu)	single nucleotide variant	ABHD16A-related disorder [RCV003951943]	Chr6:31703197 [GRCh38] Chr6:31670974 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.77C>T (p.Pro26Leu)	single nucleotide variant	Inborn genetic diseases [RCV004423023]	Chr6:31703205 [GRCh38] Chr6:31670982 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.22G>A (p.Val8Ile)	single nucleotide variant	not provided [RCV003886928]	Chr6:31703260 [GRCh38] Chr6:31671037 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.568C>T (p.Arg190Trp)	single nucleotide variant	ABHD16A-related disorder [RCV003921545]	Chr6:31693085 [GRCh38] Chr6:31660862 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.1174C>T (p.Pro392Ser)	single nucleotide variant	Inborn genetic diseases [RCV004422979]	Chr6:31689027 [GRCh38] Chr6:31656804 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.532C>T (p.Arg178Trp)	single nucleotide variant	Inborn genetic diseases [RCV004423009]	Chr6:31693121 [GRCh38] Chr6:31660898 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.406C>T (p.Arg136Trp)	single nucleotide variant	Inborn genetic diseases [RCV004423003]	Chr6:31696971 [GRCh38] Chr6:31664748 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1233C>T (p.Asn411=)	single nucleotide variant	not provided [RCV003886115]	Chr6:31688740 [GRCh38] Chr6:31656517 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.584C>A (p.Thr195Asn)	single nucleotide variant	Inborn genetic diseases [RCV004667408]	Chr6:31693069 [GRCh38] Chr6:31660846 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.1559G>A (p.Ser520Asn)	single nucleotide variant	Inborn genetic diseases [RCV004667494]	Chr6:31687532 [GRCh38] Chr6:31655309 [GRCh37] Chr6:6p21.33	uncertain significance
NC_000006.11:g.(?_31631971)_(31895135_?)del	deletion	not provided [RCV004578802]	Chr6:31631971..31895135 [GRCh37] Chr6:6p21.33	pathogenic
NC_000006.11:g.(?_31620520)_(31937492_?)del	deletion	not provided [RCV004578883]	Chr6:31620520..31937492 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.949G>A (p.Gly317Arg)	single nucleotide variant	Inborn genetic diseases [RCV004674991]	Chr6:31690086 [GRCh38] Chr6:31657863 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.639G>A (p.Ala213=)	single nucleotide variant	not provided [RCV004575025]	Chr6:31691906 [GRCh38] Chr6:31659683 [GRCh37] Chr6:6p21.33	likely benign
NM_021160.3(ABHD16A):c.616C>G (p.Gln206Glu)	single nucleotide variant	Inborn genetic diseases [RCV004674856]	Chr6:31693037 [GRCh38] Chr6:31660814 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1378C>T (p.Arg460Trp)	single nucleotide variant	Inborn genetic diseases [RCV004675065]	Chr6:31687893 [GRCh38] Chr6:31655670 [GRCh37] Chr6:6p21.33	uncertain significance
NM_021160.3(ABHD16A):c.1307+1G>A	single nucleotide variant	Spastic paraplegia 86, autosomal recessive [RCV004765425]		likely pathogenic
GRCh37/hg19 6p21.33(chr6:31630124-31657924)x1	copy number loss	Poirier-Bienvenu neurodevelopmental syndrome [RCV004767742]	Chr6:31630124..31657924 [GRCh37] Chr6:6p21.33	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	6094
Count of miRNA genes:	1094
Interacting mature miRNAs:	1382
Transcripts:	ENST00000375842, ENST00000395952, ENST00000440843, ENST00000468037, ENST00000468205, ENST00000471644, ENST00000474007, ENST00000475742, ENST00000477016, ENST00000477462, ENST00000482224, ENST00000490209, ENST00000492084, ENST00000492899, ENST00000495769, ENST00000496579, ENST00000498420, ENST00000538874
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1358839	MULTSCL5_H	Multiple sclerosis susceptibility QTL 5 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
407067429	GWAS716405_H	pyridoxate measurement QTL GWAS716405 (human)		0.000006	vitamin metabolism trait (VT:0015087)		6	31701808	31701809	Human
1643377	BW325_H	Body weight QTL 325 (human)	2.32	0.0005	Body fat amount		6	6911960	32911960	Human
1643569	GLUCO21_H	Glucose level QTL 21 (human)		0.021	Glucose level	non-insulin-dependent	6	6911960	32911960	Human
407068843	GWAS717819_H	Inguinal hernia QTL GWAS717819 (human)		2e-10	Inguinal hernia		6	31698647	31698648	Human
1298458	BW9_H	Body weight QTL 9 (human)	2.7	0.0002	Body fat amount		6	6911960	32911960	Human
407054025	GWAS703001_H	monocyte percentage of leukocytes QTL GWAS703001 (human)		4e-14	monocyte percentage of leukocytes	blood monocyte count to total leukocyte count ratio (CMO:0000374)	6	31701719	31701720	Human
1298431	RA11_H	Rheumatoid arthritis QTL 11 (human)		0.0000024	Joint/bone inflammation	rheumatoid arthritis	6	19911883	40191709	Human
407045331	GWAS694307_H	mosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement QTL GWAS694307 (human)		0.0000002	mosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement		6	31698509	31698512	Human
406967376	GWAS616352_H	hemoglobin measurement QTL GWAS616352 (human)		6e-14	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	6	31689636	31689637	Human
1358854	MULTSCL4_H	Multiple sclerosis susceptibility QTL 4 (human)			Multiple sclerosis susceptibility		6	6911960	32911960	Human
407134896	GWAS783872_H	Takayasu arteritis QTL GWAS783872 (human)		3e-11	Takayasu arteritis		6	31687661	31687662	Human
407042357	GWAS691333_H	mosquito bite reaction itch intensity measurement QTL GWAS691333 (human)		1e-18	mosquito bite reaction itch intensity measurement		6	31698509	31698512	Human
407081947	GWAS730923_H	educational attainment QTL GWAS730923 (human)		4e-17	educational attainment		6	31689977	31689978	Human
407045048	GWAS694024_H	mosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement QTL GWAS694024 (human)		2e-08	mosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement		6	31698509	31698512	Human
1358857	MULTSCL19_H	Multiple sclerosis susceptibility QTL 19 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
1643399	BMD5_H	Bone mineral density QTL 5 (human)	2.32	0.0005	Bone mineral density		6	6911960	32911960	Human
407066493	GWAS715469_H	complement C4b measurement QTL GWAS715469 (human)		5e-16	complement C4b measurement		6	31697675	31697676	Human

Markers in Region

D6S1938

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,654,769 - 31,655,020	UniSTS	GRCh37
Build 36	6	31,762,748 - 31,762,999	RGD	NCBI36
Celera	6	33,252,988 - 33,253,239	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	31,440,994 - 31,441,245	UniSTS
GeneMap99-GB4 RH Map	6	145.45	UniSTS
GeneMap99-GB4 RH Map	6	120.03	UniSTS
Whitehead-RH Map	6	179.7	UniSTS
NCBI RH Map	6	509.1	UniSTS

WI-10341

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,665,717 - 31,665,874	UniSTS	GRCh37
Build 36	6	31,773,696 - 31,773,853	RGD	NCBI36
Celera	6	33,263,940 - 33,264,097	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	31,451,949 - 31,452,106	UniSTS
Whitehead-RH Map	6	179.7	UniSTS
NCBI RH Map	6	509.1	UniSTS

NIB1238

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,654,786 - 31,654,954	UniSTS	GRCh37
Build 36	6	31,762,765 - 31,762,933	RGD	NCBI36
Celera	6	33,253,005 - 33,253,173	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	31,441,011 - 31,441,179	UniSTS
GeneMap99-GB4 RH Map	6	119.82	UniSTS
Whitehead-RH Map	6	177.0	UniSTS

RH1536

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,654,820 - 31,654,963	UniSTS	GRCh37
Build 36	6	31,762,799 - 31,762,942	RGD	NCBI36
Celera	6	33,253,039 - 33,253,182	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	31,441,045 - 31,441,188	UniSTS
GeneMap99-GB4 RH Map	6	119.82	UniSTS

D6S1165E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,654,792 - 31,654,972	UniSTS	GRCh37
Build 36	6	31,762,771 - 31,762,951	RGD	NCBI36
Celera	6	33,253,011 - 33,253,191	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	31,441,017 - 31,441,197	UniSTS
GeneMap99-GB4 RH Map	6	119.82	UniSTS

A002L14

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,654,796 - 31,654,977	UniSTS	GRCh37
Build 36	6	31,762,775 - 31,762,956	RGD	NCBI36
Celera	6	33,253,015 - 33,253,196	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	31,441,021 - 31,441,202	UniSTS
GeneMap99-GB4 RH Map	6	119.71	UniSTS
GeneMap99-GB4 RH Map	6	119.93	UniSTS
Whitehead-RH Map	6	177.0	UniSTS

RH93334

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,659,608 - 31,660,840	UniSTS	GRCh37
Celera	6	33,257,827 - 33,259,059	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	31,445,833 - 31,447,065	UniSTS
GeneMap99-GB4 RH Map	6	119.49	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001177515	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021160	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_033488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_033489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF129756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF193047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI076373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023194	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL670886	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL805934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BA000025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC031839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE272017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP261875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX511262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR354443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR753842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC318775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC360732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000395952 ⟹ ENSP00000379282

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,686,955 - 31,703,324 (-)	Ensembl

Ensembl Acc Id:

ENST00000440843 ⟹ ENSP00000410347

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,687,186 - 31,703,070 (-)	Ensembl

Ensembl Acc Id:

ENST00000468037 ⟹ ENSP00000417566

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,692,894 - 31,702,984 (-)	Ensembl

Ensembl Acc Id:

ENST00000468205

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,686,955 - 31,688,389 (-)	Ensembl

Ensembl Acc Id:

ENST00000471644

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,687,653 - 31,690,245 (-)	Ensembl

Ensembl Acc Id:

ENST00000474007

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,687,575 - 31,688,303 (-)	Ensembl

Ensembl Acc Id:

ENST00000475742

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,686,955 - 31,690,602 (-)	Ensembl

Ensembl Acc Id:

ENST00000477016

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,687,773 - 31,691,646 (-)	Ensembl

Ensembl Acc Id:

ENST00000477462 ⟹ ENSP00000418331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,691,649 - 31,703,300 (-)	Ensembl

Ensembl Acc Id:

ENST00000482224 ⟹ ENSP00000419742

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,692,752 - 31,703,311 (-)	Ensembl

Ensembl Acc Id:

ENST00000490209

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,687,387 - 31,688,321 (-)	Ensembl

Ensembl Acc Id:

ENST00000492084 ⟹ ENSP00000420585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,686,959 - 31,703,073 (-)	Ensembl

Ensembl Acc Id:

ENST00000492899

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,691,589 - 31,692,294 (-)	Ensembl

Ensembl Acc Id:

ENST00000495769 ⟹ ENSP00000418170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,686,989 - 31,703,340 (-)	Ensembl

Ensembl Acc Id:

ENST00000496579

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,691,446 - 31,693,056 (-)	Ensembl

Ensembl Acc Id:

ENST00000498420 ⟹ ENSP00000420628

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,689,015 - 31,703,356 (-)	Ensembl

RefSeq Acc Id:

NM_001177515 ⟹ NP_001170986

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,686,955 - 31,702,958 (-)	NCBI
GRCh37	6	31,654,726 - 31,671,137 (-)	RGD
Celera	6	33,252,945 - 33,269,362 (-)	RGD
HuRef	6	31,440,951 - 31,457,370 (-)	RGD
CHM1_1	6	31,656,862 - 31,672,986 (-)	NCBI
T2T-CHM13v2.0	6	31,539,989 - 31,555,993 (-)	NCBI

Sequence:

show sequence

GCTCTTTACCGCTTTCTCATTCCGACTGCCACTCTTTGTTCTTTCCTCTCCGCGTCCCCCCGAC
CCTGTGTGTCGTGGTTCGTGCCGGTCCCAGTTGAGTCTTGAGTCCCGGGAAGAGACCCTGCGCG
GACTGGGGAGCCGTTGAATTTTGCTGTCAGACTCCCAGTTTCCTCTTCTTCAGTGCCTCTTCAT
GCCTCCCCCGGCTCTGTTTTTATCTTCCCTTTACCCTCGCCTTGAATTTCAGAATGACTTTTAC
AGATCCTGTATCCGTCGGTCCTCCCCTCAACCCCCGCCCAACCTAGCCTGGAGACCCGAGTCAT
TGTATTCTGGAGAGCTGGCGGGTGGTGGTTACTTGAGTTTGTCCAAAGTGGTGCCGTTTTCTCA
CTATGCTGGGACATTGCTGCTACTTCTGGCAGGTGTGGCCTGCCTCCGAGGCATTGGCCGCTGG
ACCAACCCCCAGTACCGGCAGTTCATCACCATCTTGGAAGCAACACATCGGAACCAGTCTTCAG
AAAACAAGAGGCAGCTTGCCAACTACAACTTTGACTTCCGGAGCTGGCCAGTCGACTTCCACTG
GGAAGAACCCAGCAGCCGGAAGGAGTCTCGAGGGGGCCCTTCCCGCCGGGGTGTGGCCCTGCTT
CGCCCAGAGCCCCTGCACCGGGGGACAGCAGACACCCTCCTCAACCGGGTTAAGAAGCTGCCTT
GTCAGATCACCAGCTACCTGGTGGCGCACACCCTAGGGCGCCGGATGCTGTATCCAGGCTCTGT
GTACCTGCTGCAGAAGGCCCTCATGCCTGTGCTGCTGCAGGGCCAGGCCCGACTGGTGGAAGAG
TGTAATGGGCGCCGGGCAAAGCTGCTGGCCTGTGATGGCAATGAGATTGACACCATGTTTGTGG
ACCGGCGGGGGACAGCTGAGCCCCAGGGACAGAAGCTGGTGATCTGCTGTGAGGGGAATGCTGG
GTTTTATGAGGTGGGCTGCGTCTCCACGCCCCTGGAAGCTGGATATTCAGTCCTGGGCTGGAAT
CATCCAGGCTTTGCTGGAAGCACGGGGGTGCCATTCCCGCAGAATGAGGCTAATGCCATGGATG
TGGTGGTCCAGTTTGCCATCCACCGCCTAGGCTTCCAGCCCCAGGACATCATCATCTACGCCTG
GTCCATCGGCGGCTTCACTGCCACGTGGGCAGCCATGTCCTACCCAGATGTTAGTGCCATGATC
CTGGATGCCTCCTTTGATGACCTGGTGCCCTTGGCCTTGAAGGTCATGCCAGACAGCTGGAGGG
GCCTGGTGACCAGGACCGTGAGGCAGCATCTCAATCTAAACAACGCGGAGCAGCTGTGCAGATA
CCAGGGTCCTGTACTGCTGATCCGGAGAACCAAGGATGAGATCATCACCACCACGGTTCCTGAG
GACATCATGTCCAACCGAGGCAATGACCTCCTGCTGAAGCTCCTGCAGCATCGGTATCCCCGGG
TGATGGCAGAGGAGGGTCTTCGAGTGGTGAGGCAGTGGTTGGAGGCCTCCTCACAGCTGGAGGA
AGCCTCAATTTATAGCCGATGGGAGGTGGAAGAGGACTGGTGTCTGTCTGTCCTCCGCTCCTAC
CAGGCAGAACACGGGCCCGACTTCCCCTGGAGCGTGGGGGAGGACATGAGTGCAGATGGACGGC
GGCAGCTGGCTTTGTTTCTGGCTCGGAAGCATCTGCACAACTTTGAGGCCACTCACTGCACCCC
ACTCCCAGCCCAGAACTTCCAGATGCCCTGGCACCTCTAGGGACCAACTGGGACTCATTATGGA
AGAATGGGGTGAGAGGAGACATGAGGAAAGACCCTCTTATTTGTGATTCTCTGTGTTCATGTTG
CTGTTTATAGTTTGTGGAAAGTGGGGGACCATCCCCCTTCTCACCACTGTTCCTCTTGCACGTT
TCCCCTCATTCATGTGGCTGTACTTAACCTTCTCCAACATACATCCTGCATTACATGAATGGAT
TATTCCTAATAATTAATAAAAAGGTATTTTTTCTACTATCA

hide sequence

RefSeq Acc Id:

NM_021160 ⟹ NP_066983

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,686,955 - 31,703,324 (-)	NCBI
GRCh37	6	31,654,726 - 31,671,137 (-)	RGD
Build 36	6	31,762,715 - 31,779,067 (-)	NCBI Archive
Celera	6	33,252,945 - 33,269,362 (-)	RGD
HuRef	6	31,440,951 - 31,457,370 (-)	RGD
CHM1_1	6	31,656,862 - 31,673,273 (-)	NCBI
T2T-CHM13v2.0	6	31,539,989 - 31,556,359 (-)	NCBI

Sequence:

show sequence

AGGGGGACCTGCTGCTGGAAGAGCAGCGGCCCGAGCCGGGGCCATGGCGAAGCTGCTGAGCTGC
GTCCTAGGCCCCCGGCTCTACAAAATCTACCGGGAGAGGGACTCTGAAAGGGCCCCGGCCAGCG
TCCCTGAGACGCCAACGGCAGTCACTGCCCCCCATTCCAGCTCCTGGGATACGTACTATCAGCC
CCGTGCCCTGGAGAAACATGCTGACAGCATCCTGGCACTGGCTTCAGTATTCTGGTCCATCTCT
TATTACTCCTCTCCCTTCGCCTTCTTCTACTTGTACAGGAAAGGTTACTTGAGTTTGTCCAAAG
TGGTGCCGTTTTCTCACTATGCTGGGACATTGCTGCTACTTCTGGCAGGTGTGGCCTGCCTCCG
AGGCATTGGCCGCTGGACCAACCCCCAGTACCGGCAGTTCATCACCATCTTGGAAGCAACACAT
CGGAACCAGTCTTCAGAAAACAAGAGGCAGCTTGCCAACTACAACTTTGACTTCCGGAGCTGGC
CAGTCGACTTCCACTGGGAAGAACCCAGCAGCCGGAAGGAGTCTCGAGGGGGCCCTTCCCGCCG
GGGTGTGGCCCTGCTTCGCCCAGAGCCCCTGCACCGGGGGACAGCAGACACCCTCCTCAACCGG
GTTAAGAAGCTGCCTTGTCAGATCACCAGCTACCTGGTGGCGCACACCCTAGGGCGCCGGATGC
TGTATCCAGGCTCTGTGTACCTGCTGCAGAAGGCCCTCATGCCTGTGCTGCTGCAGGGCCAGGC
CCGACTGGTGGAAGAGTGTAATGGGCGCCGGGCAAAGCTGCTGGCCTGTGATGGCAATGAGATT
GACACCATGTTTGTGGACCGGCGGGGGACAGCTGAGCCCCAGGGACAGAAGCTGGTGATCTGCT
GTGAGGGGAATGCTGGGTTTTATGAGGTGGGCTGCGTCTCCACGCCCCTGGAAGCTGGATATTC
AGTCCTGGGCTGGAATCATCCAGGCTTTGCTGGAAGCACGGGGGTGCCATTCCCGCAGAATGAG
GCTAATGCCATGGATGTGGTGGTCCAGTTTGCCATCCACCGCCTAGGCTTCCAGCCCCAGGACA
TCATCATCTACGCCTGGTCCATCGGCGGCTTCACTGCCACGTGGGCAGCCATGTCCTACCCAGA
TGTTAGTGCCATGATCCTGGATGCCTCCTTTGATGACCTGGTGCCCTTGGCCTTGAAGGTCATG
CCAGACAGCTGGAGGGGCCTGGTGACCAGGACCGTGAGGCAGCATCTCAATCTAAACAACGCGG
AGCAGCTGTGCAGATACCAGGGTCCTGTACTGCTGATCCGGAGAACCAAGGATGAGATCATCAC
CACCACGGTTCCTGAGGACATCATGTCCAACCGAGGCAATGACCTCCTGCTGAAGCTCCTGCAG
CATCGGTATCCCCGGGTGATGGCAGAGGAGGGTCTTCGAGTGGTGAGGCAGTGGTTGGAGGCCT
CCTCACAGCTGGAGGAAGCCTCAATTTATAGCCGATGGGAGGTGGAAGAGGACTGGTGTCTGTC
TGTCCTCCGCTCCTACCAGGCAGAACACGGGCCCGACTTCCCCTGGAGCGTGGGGGAGGACATG
AGTGCAGATGGACGGCGGCAGCTGGCTTTGTTTCTGGCTCGGAAGCATCTGCACAACTTTGAGG
CCACTCACTGCACCCCACTCCCAGCCCAGAACTTCCAGATGCCCTGGCACCTCTAGGGACCAAC
TGGGACTCATTATGGAAGAATGGGGTGAGAGGAGACATGAGGAAAGACCCTCTTATTTGTGATT
CTCTGTGTTCATGTTGCTGTTTATAGTTTGTGGAAAGTGGGGGACCATCCCCCTTCTCACCACT
GTTCCTCTTGCACGTTTCCCCTCATTCATGTGGCTGTACTTAACCTTCTCCAACATACATCCTG
CATTACATGAATGGATTATTCCTAATAATTAATAAAAAGGTATTTTTTCTACTATCA

hide sequence

RefSeq Acc Id:

NR_033488

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,686,955 - 31,702,958 (-)	NCBI
GRCh37	6	31,654,726 - 31,671,137 (-)	RGD
Celera	6	33,252,945 - 33,269,362 (-)	RGD
HuRef	6	31,440,951 - 31,457,370 (-)	RGD
CHM1_1	6	31,656,862 - 31,672,986 (-)	NCBI
T2T-CHM13v2.0	6	31,539,989 - 31,555,993 (-)	NCBI

Sequence:

show sequence

GCTCTTTACCGCTTTCTCATTCCGACTGCCACTCTTTGTTCTTTCCTCTCCGCGTCCCCCCGAC
CCTGTGTGTCGTGGTTCGTGCCGGTCCCAGTTGAGTCTTGAGTCCCGGGAAGAGACCCTGCGCG
GACTGGGGAGCCGTTGAATTTTGCTGTCAGACTCCCAGTTTCCTCTTCTTCAGTGCCTCTTCAT
GCCTCCCCCGGCTCTGTTTTTATCTTCCCTTTACCCTCGCCTTGAATTTCAGAATGACTTTTAC
AGATCCTGTATCCGTCGGTCCTCCCCTCAACCCCCGCCCAACCTAGCCTGGAGACCCGAGTCAT
TGTATTCTGGAGAGCTGGCGGGTGGTGGATACGTACTATCAGCCCCGTGCCCTGGAGAAACATG
CTGACAGCATCCTGGCACTGGCTTCAGTATTCTGGTCCATCTCTTATTACTCCTCTCCCTTCGC
CTTCTTCTACTTGTACAGGAAAGGTTACTTGAGTTTGTCCAAAGTGGTGCCGTTTTCTCACTAT
GCTGGGACATTGCTGCTACTTCTGGCAGGTGTGGCCTGCCTCCGAGGCATTGGCCGCTGGACCA
ACCCCCAGTACCGGCAGTTCATCACCATCTTGGAAGCAACACATCGGAACCAGTCTTCAGAAAA
CAAGAGGCAGCTTGCCAACTACAACTTTGACTTCCGGAGCTGGCCAGTCGACTTCCACTGGGAA
GAACCCAGCAGCCGGAAGGAGTCTCGAGGGGGCCCTTCCCGCCGGGGTGTGGCCCTGCTTCGCC
CAGAGCCCCTGCACCGGGGGACAGCAGACACCCTCCTCAACCGGGTTAAGAAGCTGCCTTGTCA
GATCACCAGCTACCTGGTGGCGCACACCCTAGGGCGCCGGATGCTGTATCCAGGCTCTGTGTAC
CTGCTGCAGAAGGCCCTCATGCCTGTGCTGCTGCAGGGCCAGGCCCGACTGGTGGAAGAGTGTA
ATGGGCGCCGGGCAAAGCTGCTGGCCTGTGATGGCAATGAGATTGACACCATGTTTGTGGACCG
GCGGGGGACAGCTGAGCCCCAGGGACAGAAGCTGGTGATCTGCTGTGAGGGGAATGCTGGGTTT
TATGAGGTGGGCTGCGTCTCCACGCCCCTGGAAGCTGGATATTCAGTCCTGGGCTGGAATCATC
CAGGCTTTGCTGGAAGCACGGGGGTGCCATTCCCGCAGAATGAGGCTAATGCCATGGATGTGGT
GGTCCAGTTTGCCATCCACCGCCTAGGCTTCCAGCCCCAGGACATCATCATCTACGCCTGGTCC
ATCGGCGGCTTCACTGCCACGTGGGCAGCCATGTCCTACCCAGATGTTAGTGCCATGATCCTGG
ATGCCTCCTTTGATGACCTGGTGCCCTTGGCCTTGAAGGTCATGCCAGACAGCTGGAGGGGCCT
GGTGACCAGGACCGTGAGGCAGCATCTCAATCTAAACAACGCGGAGCAGCTGTGCAGATACCAG
GGTCCTGTACTGCTGATCCGGAGAACCAAGGATGAGATCATCACCACCACGGTTCCTGAGGACA
TCATGTCCAACCGAGGCAATGACCTCCTGCTGAAGCTCCTGCAGCATCGGTATCCCCGGGTGAT
GGCAGAGGAGGGTCTTCGAGTGGTGAGGCAGTGGTTGGAGGCCTCCTCACAGCTGGAGGAAGCC
TCAATTTATAGCCGATGGGAGGTGGAAGAGGACTGGTGTCTGTCTGTCCTCCGCTCCTACCAGG
CAGAACACGGGCCCGACTTCCCCTGGAGCGTGGGGGAGGACATGAGTGCAGATGGACGGCGGCA
GCTGGCTTTGTTTCTGGCTCGGAAGCATCTGCACAACTTTGAGGCCACTCACTGCACCCCACTC
CCAGCCCAGAACTTCCAGATGCCCTGGCACCTCTAGGGACCAACTGGGACTCATTATGGAAGAA
TGGGGTGAGAGGAGACATGAGGAAAGACCCTCTTATTTGTGATTCTCTGTGTTCATGTTGCTGT
TTATAGTTTGTGGAAAGTGGGGGACCATCCCCCTTCTCACCACTGTTCCTCTTGCACGTTTCCC
CTCATTCATGTGGCTGTACTTAACCTTCTCCAACATACATCCTGCATTACATGAATGGATTATT
CCTAATAATTAATAAAAAGGTATTTTTTCTACTATCA

hide sequence

RefSeq Acc Id:

NR_033489

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,686,955 - 31,703,324 (-)	NCBI
GRCh37	6	31,654,726 - 31,671,137 (-)	RGD
Celera	6	33,252,945 - 33,269,362 (-)	RGD
HuRef	6	31,440,951 - 31,457,370 (-)	RGD
CHM1_1	6	31,656,862 - 31,673,273 (-)	NCBI
T2T-CHM13v2.0	6	31,539,989 - 31,556,359 (-)	NCBI

Sequence:

show sequence

AGGGGGACCTGCTGCTGGAAGAGCAGCGGCCCGAGCCGGGGCCATGGCGAAGCTGCTGAGCTGC
GTCCTAGGCCCCCGGCTCTACAAAATCTACCGGGAGAGGGACTCTGAAAGGGCCCCGGCCAGCG
TCCCTGAGACGCCAACGGCAGTCACTGCCCCCCATTCCAGCTCCTGGGTTACTTGAGTTTGTCC
AAAGTGGTGCCGTTTTCTCACTATGCTGGGACATTGCTGCTACTTCTGGCAGGTGTGGCCTGCC
TCCGAGGCATTGGCCGCTGGACCAACCCCCAGTACCGGCAGTTCATCACCATCTTGGAAGCAAC
ACATCGGAACCAGTCTTCAGAAAACAAGAGGCAGCTTGCCAACTACAACTTTGACTTCCGGAGC
TGGCCAGTCGACTTCCACTGGGAAGAACCCAGCAGCCGGAAGGAGTCTCGAGGGGGCCCTTCCC
GCCGGGGTGTGGCCCTGCTTCGCCCAGAGCCCCTGCACCGGGGGACAGCAGACACCCTCCTCAA
CCGGGTTAAGAAGCTGCCTTGTCAGATCACCAGCTACCTGGTGGCGCACACCCTAGGGCGCCGG
ATGCTGTATCCAGGCTCTGTGTACCTGCTGCAGAAGGCCCTCATGCCTGTGCTGCTGCAGGGCC
AGGCCCGACTGGTGGAAGAGTGTAATGGGCGCCGGGCAAAGCTGCTGGCCTGTGATGGCAATGA
GATTGACACCATGTTTGTGGACCGGCGGGGGACAGCTGAGCCCCAGGGACAGAAGCTGGTGATC
TGCTGTGAGGGGAATGCTGGGTTTTATGAGGTGGGCTGCGTCTCCACGCCCCTGGAAGCTGGAT
ATTCAGTCCTGGGCTGGAATCATCCAGGCTTTGCTGGAAGCACGGGGGTGCCATTCCCGCAGAA
TGAGGCTAATGCCATGGATGTGGTGGTCCAGTTTGCCATCCACCGCCTAGGCTTCCAGCCCCAG
GACATCATCATCTACGCCTGGTCCATCGGCGGCTTCACTGCCACGTGGGCAGCCATGTCCTACC
CAGATGTTAGTGCCATGATCCTGGATGCCTCCTTTGATGACCTGGTGCCCTTGGCCTTGAAGGT
CATGCCAGACAGCTGGAGGGGCCTGGTGACCAGGACCGTGAGGCAGCATCTCAATCTAAACAAC
GCGGAGCAGCTGTGCAGATACCAGGGTCCTGTACTGCTGATCCGGAGAACCAAGGATGAGATCA
TCACCACCACGGTTCCTGAGGACATCATGTCCAACCGAGGCAATGACCTCCTGCTGAAGCTCCT
GCAGCATCGGTATCCCCGGGTGATGGCAGAGGAGGGTCTTCGAGTGGTGAGGCAGTGGTTGGAG
GCCTCCTCACAGCTGGAGGAAGCCTCAATTTATAGCCGATGGGAGGTGGAAGAGGACTGGTGTC
TGTCTGTCCTCCGCTCCTACCAGGCAGAACACGGGCCCGACTTCCCCTGGAGCGTGGGGGAGGA
CATGAGTGCAGATGGACGGCGGCAGCTGGCTTTGTTTCTGGCTCGGAAGCATCTGCACAACTTT
GAGGCCACTCACTGCACCCCACTCCCAGCCCAGAACTTCCAGATGCCCTGGCACCTCTAGGGAC
CAACTGGGACTCATTATGGAAGAATGGGGTGAGAGGAGACATGAGGAAAGACCCTCTTATTTGT
GATTCTCTGTGTTCATGTTGCTGTTTATAGTTTGTGGAAAGTGGGGGACCATCCCCCTTCTCAC
CACTGTTCCTCTTGCACGTTTCCCCTCATTCATGTGGCTGTACTTAACCTTCTCCAACATACAT
CCTGCATTACATGAATGGATTATTCCTAATAATTAATAAAAAGGTATTTTTTCTACTATCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001170986	(Get FASTA)	NCBI Sequence Viewer
	NP_066983	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD18079	(Get FASTA)	NCBI Sequence Viewer
	AAG22475	(Get FASTA)	NCBI Sequence Viewer
	AAH31839	(Get FASTA)	NCBI Sequence Viewer
	AQY76640	(Get FASTA)	NCBI Sequence Viewer
	AQY76641	(Get FASTA)	NCBI Sequence Viewer
	AQY76642	(Get FASTA)	NCBI Sequence Viewer
	AQY76643	(Get FASTA)	NCBI Sequence Viewer
	AQY76644	(Get FASTA)	NCBI Sequence Viewer
	AQY76645	(Get FASTA)	NCBI Sequence Viewer
	AQY76646	(Get FASTA)	NCBI Sequence Viewer
	AQY76647	(Get FASTA)	NCBI Sequence Viewer
	BAA91553	(Get FASTA)	NCBI Sequence Viewer
	BAB14455	(Get FASTA)	NCBI Sequence Viewer
	BAB63383	(Get FASTA)	NCBI Sequence Viewer
	BAF82158	(Get FASTA)	NCBI Sequence Viewer
	BAG51491	(Get FASTA)	NCBI Sequence Viewer
	BAH12652	(Get FASTA)	NCBI Sequence Viewer
	BAH13975	(Get FASTA)	NCBI Sequence Viewer
	EAX03482	(Get FASTA)	NCBI Sequence Viewer
	EAX03483	(Get FASTA)	NCBI Sequence Viewer
	EAX03484	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000379282
	ENSP00000379282.3
	ENSP00000388346.1
	ENSP00000389155.2
	ENSP00000393632.1
	ENSP00000394825.1
	ENSP00000395665.2
	ENSP00000396207.1
	ENSP00000405428.2
	ENSP00000406965.2
	ENSP00000407263.1
	ENSP00000407727.2
	ENSP00000410347
	ENSP00000410347.2
	ENSP00000415240.1
	ENSP00000416404.2
	ENSP00000417566.1
	ENSP00000418170.1
	ENSP00000418331.1
	ENSP00000419742.1
	ENSP00000420585.1
	ENSP00000420628.1
	ENSP00000447498.1
	ENSP00000447549.1
	ENSP00000447846.1
	ENSP00000448431.1
	ENSP00000448451.1
	ENSP00000449579.1
GenBank Protein	O95870	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_066983 ⟸ NM_021160
- Peptide Label:	isoform a
- UniProtKB:	Q8WYH0 (UniProtKB/Swiss-Prot), Q5SRR2 (UniProtKB/Swiss-Prot), Q5SRR1 (UniProtKB/Swiss-Prot), B7Z4R6 (UniProtKB/Swiss-Prot), A2BEY3 (UniProtKB/Swiss-Prot), Q9NW33 (UniProtKB/Swiss-Prot), O95870 (UniProtKB/Swiss-Prot), A0A1U9X777 (UniProtKB/TrEMBL), A8K0A4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAKLLSCVLGPRLYKIYRERDSERAPASVPETPTAVTAPHSSSWDTYYQPRALEKHADSILALA SVFWSISYYSSPFAFFYLYRKGYLSLSKVVPFSHYAGTLLLLLAGVACLRGIGRWTNPQYRQFI TILEATHRNQSSENKRQLANYNFDFRSWPVDFHWEEPSSRKESRGGPSRRGVALLRPEPLHRGT ADTLLNRVKKLPCQITSYLVAHTLGRRMLYPGSVYLLQKALMPVLLQGQARLVEECNGRRAKLL ACDGNEIDTMFVDRRGTAEPQGQKLVICCEGNAGFYEVGCVSTPLEAGYSVLGWNHPGFAGSTG VPFPQNEANAMDVVVQFAIHRLGFQPQDIIIYAWSIGGFTATWAAMSYPDVSAMILDASFDDLV PLALKVMPDSWRGLVTRTVRQHLNLNNAEQLCRYQGPVLLIRRTKDEIITTTVPEDIMSNRGND LLLKLLQHRYPRVMAEEGLRVVRQWLEASSQLEEASIYSRWEVEEDWCLSVLRSYQAEHGPDFP WSVGEDMSADGRRQLALFLARKHLHNFEATHCTPLPAQNFQMPWHL hide sequence

RefSeq Acc Id:	NP_001170986 ⟸ NM_001177515
- Peptide Label:	isoform b
- UniProtKB:	A8K0A4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPPPALFLSSLYPRLEFQNDFYRSCIRRSSPQPPPNLAWRPESLYSGELAGGGYLSLSKVVPFS HYAGTLLLLLAGVACLRGIGRWTNPQYRQFITILEATHRNQSSENKRQLANYNFDFRSWPVDFH WEEPSSRKESRGGPSRRGVALLRPEPLHRGTADTLLNRVKKLPCQITSYLVAHTLGRRMLYPGS VYLLQKALMPVLLQGQARLVEECNGRRAKLLACDGNEIDTMFVDRRGTAEPQGQKLVICCEGNA GFYEVGCVSTPLEAGYSVLGWNHPGFAGSTGVPFPQNEANAMDVVVQFAIHRLGFQPQDIIIYA WSIGGFTATWAAMSYPDVSAMILDASFDDLVPLALKVMPDSWRGLVTRTVRQHLNLNNAEQLCR YQGPVLLIRRTKDEIITTTVPEDIMSNRGNDLLLKLLQHRYPRVMAEEGLRVVRQWLEASSQLE EASIYSRWEVEEDWCLSVLRSYQAEHGPDFPWSVGEDMSADGRRQLALFLARKHLHNFEATHCT PLPAQNFQMPWHL hide sequence

Ensembl Acc Id:

ENSP00000418331 ⟸ ENST00000477462

Ensembl Acc Id:

ENSP00000420585 ⟸ ENST00000492084

Ensembl Acc Id:

ENSP00000417566 ⟸ ENST00000468037

Ensembl Acc Id:

ENSP00000410347 ⟸ ENST00000440843

Ensembl Acc Id:

ENSP00000418170 ⟸ ENST00000495769

Ensembl Acc Id:

ENSP00000419742 ⟸ ENST00000482224

Ensembl Acc Id:

ENSP00000420628 ⟸ ENST00000498420

Ensembl Acc Id:

ENSP00000379282 ⟸ ENST00000395952

Protein Domains

AB hydrolase-1 Phosphatidylserine Lipase ABHD16 N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O95870-F1-model_v2	AlphaFold	O95870	1-558	view protein structure

Promoters

RGD ID:

6872582

Promoter ID:

EPDNEW_H9456

Type:

multiple initiation site

Name:

ABHD16A_2

Description:

abhydrolase domain containing 16A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9457 EPDNEW_H9458 EPDNEW_H9459

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,688,125 - 31,688,185	EPDNEW

RGD ID:

6872584

Promoter ID:

EPDNEW_H9457

Type:

initiation region

Name:

ABHD16A_3

Description:

abhydrolase domain containing 16A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9456 EPDNEW_H9458 EPDNEW_H9459

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,691,577 - 31,691,637	EPDNEW

RGD ID:

6872586

Promoter ID:

EPDNEW_H9458

Type:

initiation region

Name:

ABHD16A_4

Description:

abhydrolase domain containing 16A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9456 EPDNEW_H9457 EPDNEW_H9459

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,693,025 - 31,693,085	EPDNEW

RGD ID:

6872588

Promoter ID:

EPDNEW_H9459

Type:

initiation region

Name:

ABHD16A_1

Description:

abhydrolase domain containing 16A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9456 EPDNEW_H9457 EPDNEW_H9458

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,703,311 - 31,703,371	EPDNEW

RGD ID:

6803799

Promoter ID:

HG_KWN:52967

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000076347, OTTHUMT00000076349, OTTHUMT00000144878

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	31,763,711 - 31,764,667 (-)	MPROMDB

RGD ID:

6803806

Promoter ID:

HG_KWN:52968

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000076348, OTTHUMT00000268007

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	31,766,166 - 31,766,666 (-)	MPROMDB

RGD ID:

6803796

Promoter ID:

HG_KWN:52969

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000076346, OTTHUMT00000268006

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	31,767,466 - 31,767,966 (-)	MPROMDB

RGD ID:

6812909

Promoter ID:

HG_ACW:67969

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

BAT5.GAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	31,777,416 - 31,777,916 (-)	MPROMDB

RGD ID:

6804578

Promoter ID:

HG_KWN:52971

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000375842, NM_001177515, NR_033488, NR_033489, OTTHUMT00000076344, OTTHUMT00000076345, OTTHUMT00000268005, UC010JTC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	31,778,651 - 31,779,152 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13921	AgrOrtholog
COSMIC	ABHD16A	COSMIC
Ensembl Genes	ENSG00000204427	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000206403	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000224552	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000230475	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000231488	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000235676	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000236063	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000395952	ENTREZGENE
	ENST00000395952.8	UniProtKB/Swiss-Prot
	ENST00000413853.6	UniProtKB/TrEMBL
	ENST00000414591.5	UniProtKB/TrEMBL
	ENST00000422404.5	UniProtKB/TrEMBL
	ENST00000422411.5	UniProtKB/TrEMBL
	ENST00000429735.6	UniProtKB/TrEMBL
	ENST00000431671.5	UniProtKB/TrEMBL
	ENST00000432617.6	UniProtKB/TrEMBL
	ENST00000440799.5	UniProtKB/TrEMBL
	ENST00000440843	ENTREZGENE
	ENST00000440843.2	UniProtKB/Swiss-Prot
	ENST00000444818.6	UniProtKB/TrEMBL
	ENST00000446366.5	UniProtKB/TrEMBL
	ENST00000446529.6	UniProtKB/Swiss-Prot
	ENST00000457366.6	UniProtKB/TrEMBL
	ENST00000468037.1	UniProtKB/TrEMBL
	ENST00000477462.5	UniProtKB/TrEMBL
	ENST00000482224.5	UniProtKB/TrEMBL
	ENST00000492084	ENTREZGENE
	ENST00000492084.5	UniProtKB/TrEMBL
	ENST00000495769	ENTREZGENE
	ENST00000495769.5	UniProtKB/TrEMBL
	ENST00000498420.5	UniProtKB/TrEMBL
	ENST00000548592.1	UniProtKB/Swiss-Prot
	ENST00000549722.1	UniProtKB/Swiss-Prot
	ENST00000549853.1	UniProtKB/Swiss-Prot
	ENST00000550556.1	UniProtKB/Swiss-Prot
	ENST00000551038.1	UniProtKB/Swiss-Prot
	ENST00000552042.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.1820	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000204427	GTEx
	ENSG00000206403	GTEx
	ENSG00000224552	GTEx
	ENSG00000230475	GTEx
	ENSG00000231488	GTEx
	ENSG00000235676	GTEx
	ENSG00000236063	GTEx
HGNC ID	HGNC:13921	ENTREZGENE
Human Proteome Map	ABHD16A	Human Proteome Map
InterPro	AB_hydrolase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AB_hydrolase_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ABHD16_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:7920	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	7920	ENTREZGENE
OMIM	142620	OMIM
PANTHER	ALPHA/BETA HYDROLASE DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12277:SF54	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ABHD16_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Abhydrolase_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25266	PharmGKB
Superfamily-SCOP	SSF53474	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0G2JI89_HUMAN	UniProtKB/TrEMBL
	A0A0G2JJD3_HUMAN	UniProtKB/TrEMBL
	A0A1U9X777	ENTREZGENE, UniProtKB/TrEMBL
	A2BEY3	ENTREZGENE
	A8K0A4	ENTREZGENE, UniProtKB/TrEMBL
	ABHGA_HUMAN	UniProtKB/Swiss-Prot
	B3KNX9_HUMAN	UniProtKB/TrEMBL
	B7Z4R6	ENTREZGENE
	F2Z3G6_HUMAN	UniProtKB/TrEMBL
	F2Z3H2_HUMAN	UniProtKB/TrEMBL
	F2Z3Q3_HUMAN	UniProtKB/TrEMBL
	O95870	ENTREZGENE
	Q5SRR1	ENTREZGENE
	Q5SRR2	ENTREZGENE
	Q8WYH0	ENTREZGENE
	Q9NW33	ENTREZGENE
UniProt Secondary	A2BEY3	UniProtKB/Swiss-Prot
	B7Z4R6	UniProtKB/Swiss-Prot
	Q5SRR1	UniProtKB/Swiss-Prot
	Q5SRR2	UniProtKB/Swiss-Prot
	Q8WYH0	UniProtKB/Swiss-Prot
	Q9NW33	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-01-28	ABHD16A	abhydrolase domain containing 16A, phospholipase	ABHD16A	abhydrolase domain containing 16A	Symbol and/or name change	5135510	APPROVED
2011-07-27	ABHD16A	abhydrolase domain containing 16A	BAT5	HLA-B associated transcript 5	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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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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