TMEM126A (transmembrane protein 126A)

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Gene: TMEM126A (transmembrane protein 126A) Homo sapiens

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Symbol:

TMEM126A

Name:

transmembrane protein 126A

RGD ID:

1604272

HGNC Page

HGNC:25382

Description:

Involved in mitochondrial protein quality control; mitochondrion organization; and optic nerve development. Located in mitochondrion. Is active in mitochondrial inner membrane. Implicated in optic atrophy 7.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DKFZp586C1924; OPA7

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tmem126a (transmembrane protein 126A)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tmem126a (transmembrane protein 126A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tmem126a (transmembrane protein 126A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TMEM126A (transmembrane protein 126A)	NCBI	Ortholog
Canis lupus familiaris (dog):	TMEM126A (transmembrane protein 126A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tmem126a (transmembrane protein 126A)	NCBI	Ortholog
Sus scrofa (pig):	TMEM126A (transmembrane protein 126A)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TMEM126A (transmembrane protein 126A)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tmem126a (transmembrane protein 126A)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Polr2k (RNA polymerase II, I and III subunit K)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tmem126a (transmembrane protein 126A)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tmem126a (transmembrane protein 126A)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tmem126a (transmembrane protein 126A)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG13392	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	tmem126a	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	tmem126a.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

AC112673.1 LOC100130437 LOC100132789

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	11	85,647,967 - 85,656,542 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	85,647,967 - 85,656,547 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	85,359,011 - 85,367,586 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	85,036,693 - 85,045,235 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	82,668,277 - 82,676,912 (+)	NCBI		Celera
Cytogenetic Map	11	q14.1	NCBI
HuRef	11	81,656,256 - 81,664,891 (+)	NCBI		HuRef
CHM1_1	11	85,243,754 - 85,252,388 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	85,584,644 - 85,593,220 (+)	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

exudative vitreoretinopathy 1 (IAGP)

Hereditary Optic Atrophies (IAGP)

intellectual disability (IAGP)

optic atrophy 7 (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

1,2-dimethylhydrazine (ISO)

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

2-hydroxypropanoic acid (EXP)

aconitine (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

AM-251 (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

clofibric acid (ISO)

cyclosporin A (EXP)

deguelin (EXP)

dicrotophos (EXP)

disodium selenite (EXP)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

fulvestrant (EXP)

N-nitrosodiethylamine (ISO)

nefazodone (ISO)

nimesulide (ISO)

picoxystrobin (EXP)

quercetin (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

rotenone (EXP,ISO)

sodium arsenite (ISO)

thiram (EXP)

tolcapone (ISO)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

mitochondrial protein quality control (IDA)

mitochondrial respiratory chain complex I assembly (IBA,IMP)

optic nerve development (IMP)

protein insertion into mitochondrial inner membrane from matrix (IDA)

toll-like receptor 4 signaling pathway (IEA,ISO)

Cellular Component

mitochondrial inner membrane (IDA,IEA,TAS)

mitochondrion (HTP,IBA,IDA,IEA)

plasma membrane (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal recessive inheritance (IAGP)

Central scotoma (IAGP)

Constriction of peripheral visual field (IAGP)

Dyschromatopsia (IAGP)

Horizontal nystagmus (IAGP)

Hypertrophic cardiomyopathy (IAGP)

Intellectual disability (IAGP)

Optic atrophy (IAGP)

Optic disc pallor (IAGP)

Pallor (IAGP)

Reduced visual acuity (IAGP)

Sensorineural hearing impairment (IAGP)

Strabismus (IAGP)

Variable expressivity (IAGP)

Visual impairment (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:11076863	PMID:11230166	PMID:11256614	PMID:12477932	PMID:15489334	PMID:15489336	PMID:16381901	PMID:19327736	PMID:19570815	PMID:20405026	PMID:20877624	PMID:21873635
PMID:22815638	PMID:22939629	PMID:23500070	PMID:26496610	PMID:27432908	PMID:27499296	PMID:28978906	PMID:29509190	PMID:30393159	PMID:30961538	PMID:31091453	PMID:31560077
PMID:31586073	PMID:31617661	PMID:31871319	PMID:31980649	PMID:32409323	PMID:32457219	PMID:32877691	PMID:32937373	PMID:33879611	PMID:33882309	PMID:33957083	PMID:33961781
PMID:34079125	PMID:34349018	PMID:34800366	PMID:35013556	PMID:35439318	PMID:36114006	PMID:36538041	PMID:37314216	PMID:37317656	PMID:37827155	PMID:37931956	PMID:38199007

Genomics

Comparative Map Data

TMEM126A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	85,647,967 - 85,656,542 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	85,647,967 - 85,656,547 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	85,359,011 - 85,367,586 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	85,036,693 - 85,045,235 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	82,668,277 - 82,676,912 (+)	NCBI		Celera
Cytogenetic Map	11	q14.1	NCBI
HuRef	11	81,656,256 - 81,664,891 (+)	NCBI		HuRef
CHM1_1	11	85,243,754 - 85,252,388 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	85,584,644 - 85,593,220 (+)	NCBI		T2T-CHM13v2.0

Tmem126a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	90,099,908 - 90,106,411 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	90,099,908 - 90,106,437 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	90,450,700 - 90,457,203 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	90,450,700 - 90,457,229 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	97,599,222 - 97,605,718 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	90,325,904 - 90,332,400 (-)	NCBI		MGSCv36	mm8
Celera	7	87,778,196 - 87,784,676 (-)	NCBI		Celera
Cytogenetic Map	7	E1	NCBI
cM Map	7	50.59	NCBI

Tmem126a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	153,837,015 - 153,843,192 (-)	NCBI		GRCr8
mRatBN7.2	1	144,424,481 - 144,430,730 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	144,422,703 - 144,430,628 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	152,347,274 - 152,353,446 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	159,528,451 - 159,534,610 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	152,402,370 - 152,408,529 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	156,283,105 - 156,291,057 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	156,283,128 - 156,291,052 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	162,529,113 - 162,537,179 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	147,129,330 - 147,137,259 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	147,207,735 - 147,215,665 (-)	NCBI
Celera	1	142,643,098 - 142,651,027 (-)	NCBI		Celera
Cytogenetic Map	1	q32	NCBI

Tmem126a
(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_004955414	7,216,286 - 7,224,475 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	7,214,408 - 7,224,499 (-)	NCBI	ChiLan1.0	ChiLan1.0

TMEM126A
(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	9	86,567,317 - 86,579,574 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	87,620,767 - 87,630,548 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	80,703,855 - 80,712,459 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	84,312,434 - 84,321,037 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	84,312,434 - 84,321,037 (+)	Ensembl	panpan1.1		panPan2

TMEM126A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	13,787,074 - 13,795,779 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	13,787,123 - 13,795,739 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	13,653,725 - 13,662,471 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	13,967,872 - 13,976,597 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	13,967,464 - 13,976,562 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	13,756,370 - 13,765,102 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	13,828,697 - 13,837,423 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	13,881,469 - 13,890,217 (-)	NCBI		UU_Cfam_GSD_1.0

Tmem126a
(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_024404947	71,938,905 - 71,945,739 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936498	13,538,565 - 13,545,338 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TMEM126A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	19,576,295 - 19,585,277 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	19,576,241 - 19,585,869 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	21,846,389 - 21,855,417 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TMEM126A
(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	1	76,888,688 - 76,897,883 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	76,888,734 - 76,897,841 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	48,824,623 - 48,833,726 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tmem126a
(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 1.0	NW_004624845	4,264,497 - 4,272,973 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TMEM126A
135 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000000438]\|TMEM126A-related disorder [RCV003914788]\|not provided [RCV001699096]	Chr11:85654139 [GRCh38] Chr11:85365183 [GRCh37] Chr11:11q14.1	pathogenic
NM_032273.4(TMEM126A):c.281-260G>A	single nucleotide variant	not provided [RCV001571230]	Chr11:85655334 [GRCh38] Chr11:85366378 [GRCh37] Chr11:11q14.1	likely benign
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	copy number gain	See cases [RCV000050364]	Chr11:84828563..86641166 [GRCh38] Chr11:84539606..86352208 [GRCh37] Chr11:84217254..86029856 [NCBI36] Chr11:11q14.1-14.2	uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	copy number loss	See cases [RCV000052710]	Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3	pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	copy number loss	See cases [RCV000052711]	Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2	pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	copy number gain	See cases [RCV000053637]	Chr11:78362208..86165380 [GRCh38] Chr11:78073254..85876422 [GRCh37] Chr11:77750902..85554070 [NCBI36] Chr11:11q14.1-14.2	pathogenic
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000334757]\|TMEM126A-related disorder [RCV003905200]\|not provided [RCV000676591]\|not specified [RCV000125526]	Chr11:85654072 [GRCh38] Chr11:85365116 [GRCh37] Chr11:11q14.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000625489]\|not provided [RCV000676593]\|not specified [RCV000125527]	Chr11:85654167 [GRCh38] Chr11:85365211 [GRCh37] Chr11:11q14.1	benign\|likely benign\|uncertain significance
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000391384]\|TMEM126A-related disorder [RCV003925246]\|not provided [RCV001519099]\|not specified [RCV000125528]	Chr11:85656475 [GRCh38] Chr11:85367519 [GRCh37] Chr11:11q14.1	benign\|likely benign\|uncertain significance
NM_032273.4(TMEM126A):c.20A>T (p.Asn7Ile)	single nucleotide variant	not provided [RCV001367498]\|not specified [RCV004037011]	Chr11:85650275 [GRCh38] Chr11:85361319 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	copy number loss	See cases [RCV000133838]	Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1	pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	copy number gain	See cases [RCV000134108]	Chr11:84828513..86641208 [GRCh38] Chr11:84539556..86352250 [GRCh37] Chr11:84217204..86029898 [NCBI36] Chr11:11q14.1-14.2	uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	copy number gain	See cases [RCV000139711]	Chr11:84765986..86641166 [GRCh38] Chr11:84477029..86352208 [GRCh37] Chr11:84154677..86029856 [NCBI36] Chr11:11q14.1-14.2	likely pathogenic\|uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	copy number gain	See cases [RCV000148175]	Chr11:84828563..86641166 [GRCh38] Chr11:84539606..86352208 [GRCh37] Chr11:84217254..86029856 [NCBI36] Chr11:11q14.1-14.2	uncertain significance
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001114564]\|not provided [RCV000154005]	Chr11:85655698 [GRCh38] Chr11:85366742 [GRCh37] Chr11:11q14.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001114562]\|not provided [RCV000676594]	Chr11:85655627 [GRCh38] Chr11:85366671 [GRCh37] Chr11:11q14.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000401117]\|TMEM126A-related disorder [RCV003937601]\|not provided [RCV000890740]\|not specified [RCV000177387]	Chr11:85654130 [GRCh38] Chr11:85365174 [GRCh37] Chr11:11q14.1	benign\|likely benign\|uncertain significance
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001113195]\|not provided [RCV000724291]	Chr11:85654063 [GRCh38] Chr11:85365107 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.-46_-45insACCG	insertion	Optic Atrophy, Recessive [RCV000374334]\|not provided [RCV001610517]\|not specified [RCV000200839]	Chr11:85648050..85648051 [GRCh38] Chr11:85359094..85359095 [GRCh37] Chr11:11q14.1	benign\|no classifications from unflagged records
NM_032273.4(TMEM126A):c.280+14C>T	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001114561]\|not provided [RCV001511680]\|not specified [RCV000197252]	Chr11:85654270 [GRCh38] Chr11:85365314 [GRCh37] Chr11:11q14.1	benign\|likely benign
NM_032273.4(TMEM126A):c.395+5G>A	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000352120]\|not provided [RCV000962203]\|not specified [RCV000198457]	Chr11:85655713 [GRCh38] Chr11:85366757 [GRCh37] Chr11:11q14.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_032273.4(TMEM126A):c.395+10A>G	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000389999]\|not provided [RCV000676595]\|not specified [RCV000250500]	Chr11:85655718 [GRCh38] Chr11:85366762 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.-69T>A	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000320832]\|not provided [RCV001712017]	Chr11:85648028 [GRCh38] Chr11:85359072 [GRCh37] Chr11:11q14.1	benign
NM_032273.3(TMEM126A):c.-139C>T	single nucleotide variant	Optic Atrophy, Recessive [RCV000286799]	Chr11:85647958 [GRCh38] Chr11:85359002 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.-16G>C	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000282094]	Chr11:85648081 [GRCh38] Chr11:85359125 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=)	single nucleotide variant	not provided [RCV000398867]	Chr11:85656444 [GRCh38] Chr11:85367488 [GRCh37] Chr11:11q14.1	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000364617]\|not provided [RCV002520775]	Chr11:85656415 [GRCh38] Chr11:85367459 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.-7-21_-7-19del	deletion	not specified [RCV000604508]	Chr11:85650226..85650228 [GRCh38] Chr11:85361270..85361272 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV000312457]\|not provided [RCV002522213]	Chr11:85656400 [GRCh38] Chr11:85367444 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.3(TMEM126A):c.-142C>T	single nucleotide variant	Optic Atrophy, Recessive [RCV000378815]	Chr11:85647955 [GRCh38] Chr11:85358999 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.367A>G (p.Ile123Val)	single nucleotide variant	not provided [RCV000593536]\|not specified [RCV004024743]	Chr11:85655680 [GRCh38] Chr11:85366724 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1	copy number loss	See cases [RCV000446395]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_032273.4(TMEM126A):c.87-19T>C	single nucleotide variant	not provided [RCV002522522]\|not specified [RCV000418780]	Chr11:85654044 [GRCh38] Chr11:85365088 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.234A>G (p.Thr78=)	single nucleotide variant	not provided [RCV001445327]	Chr11:85654210 [GRCh38] Chr11:85365254 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.271T>C (p.Leu91=)	single nucleotide variant	not provided [RCV001416807]	Chr11:85654247 [GRCh38] Chr11:85365291 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.54C>T (p.Ser18=)	single nucleotide variant	not specified [RCV000444705]	Chr11:85650309 [GRCh38] Chr11:85361353 [GRCh37] Chr11:11q14.1	likely benign
GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)x1	copy number loss	See cases [RCV000448261]	Chr11:85324893..85757693 [GRCh37] Chr11:11q14.1-14.2	uncertain significance
GRCh37/hg19 11q14.1(chr11:85365100-85459435)x3	copy number gain	See cases [RCV000447736]	Chr11:85365100..85459435 [GRCh37] Chr11:11q14.1	likely benign
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1	copy number loss	See cases [RCV000448436]	Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_032273.4(TMEM126A):c.107C>T (p.Ser36Leu)	single nucleotide variant	not provided [RCV000585538]	Chr11:85654083 [GRCh38] Chr11:85365127 [GRCh37] Chr11:11q14.1	likely pathogenic\|uncertain significance
NM_032273.4(TMEM126A):c.-12A>G	single nucleotide variant	not specified [RCV000601758]	Chr11:85648085 [GRCh38] Chr11:85359129 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.-8+20G>C	single nucleotide variant	not specified [RCV000599928]	Chr11:85648109 [GRCh38] Chr11:85359153 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.-7-4del	deletion	not specified [RCV000605242]	Chr11:85650240 [GRCh38] Chr11:85361284 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.86+2T>C	single nucleotide variant	not provided [RCV000513449]	Chr11:85650343 [GRCh38] Chr11:85361387 [GRCh37] Chr11:11q14.1	likely pathogenic
Single allele	deletion	Exudative vitreoretinopathy 1 [RCV000677964]	Chr11:83315294..86755595 [GRCh37] Chr11:11q14.1-14.2	pathogenic
NM_032273.4(TMEM126A):c.190C>T (p.Arg64Cys)	single nucleotide variant	not provided [RCV000676592]	Chr11:85654166 [GRCh38] Chr11:85365210 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	copy number loss	Intellectual disability [RCV000721939]	Chr11:81771852..90851187 [GRCh37] Chr11:11q14.1-14.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
GRCh37/hg19 11q14.1(chr11:85266321-85545180)x3	copy number gain	not provided [RCV000737603]	Chr11:85266321..85545180 [GRCh37] Chr11:11q14.1	benign
GRCh37/hg19 11q14.1(chr11:85303304-85406427)x3	copy number gain	not provided [RCV000737604]	Chr11:85303304..85406427 [GRCh37] Chr11:11q14.1	benign
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3	copy number gain	not provided [RCV000750120]	Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.1(chr11:85105113-85374993)x3	copy number gain	not provided [RCV000750131]	Chr11:85105113..85374993 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.313C>T (p.Arg105Trp)	single nucleotide variant	not provided [RCV001041146]	Chr11:85655626 [GRCh38] Chr11:85366670 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.338T>C (p.Ile113Thr)	single nucleotide variant	not provided [RCV001034777]	Chr11:85655651 [GRCh38] Chr11:85366695 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.281-122C>G	single nucleotide variant	not provided [RCV000835878]	Chr11:85655472 [GRCh38] Chr11:85366516 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.280+203T>C	single nucleotide variant	not provided [RCV000832582]	Chr11:85654459 [GRCh38] Chr11:85365503 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.402A>G (p.Gln134=)	single nucleotide variant	TMEM126A-related disorder [RCV003948025]\|not provided [RCV000828697]	Chr11:85656315 [GRCh38] Chr11:85367359 [GRCh37] Chr11:11q14.1	likely benign
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	copy number loss	not provided [RCV001006422]	Chr11:83530179..87059742 [GRCh37] Chr11:11q14.1-14.2	pathogenic
NM_032273.4(TMEM126A):c.433T>G (p.Leu145Val)	single nucleotide variant	not provided [RCV001210760]	Chr11:85656346 [GRCh38] Chr11:85367390 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.259G>A (p.Val87Ile)	single nucleotide variant	not provided [RCV001058389]	Chr11:85654235 [GRCh38] Chr11:85365279 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.402_405dup (p.Ala136fs)	microsatellite	not provided [RCV001052485]	Chr11:85656310..85656311 [GRCh38] Chr11:85367354..85367355 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001108930]	Chr11:85656476 [GRCh38] Chr11:85367520 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.482T>C (p.Phe161Ser)	single nucleotide variant	not provided [RCV001212150]	Chr11:85656395 [GRCh38] Chr11:85367439 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.449G>C (p.Arg150Thr)	single nucleotide variant	not provided [RCV001245702]	Chr11:85656362 [GRCh38] Chr11:85367406 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.396-64C>T	single nucleotide variant	not provided [RCV001609623]	Chr11:85656245 [GRCh38] Chr11:85367289 [GRCh37] Chr11:11q14.1	benign
NC_000011.10:g.85656581A>G	single nucleotide variant	not provided [RCV001559350]	Chr11:85656581 [GRCh38] Chr11:85367625 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001114563]\|not specified [RCV004032187]	Chr11:85655681 [GRCh38] Chr11:85366725 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.233C>G (p.Thr78Arg)	single nucleotide variant	not provided [RCV001240883]	Chr11:85654209 [GRCh38] Chr11:85365253 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.-8+80A>C	single nucleotide variant	not provided [RCV001594795]	Chr11:85648169 [GRCh38] Chr11:85359213 [GRCh37] Chr11:11q14.1	benign
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	copy number gain	not provided [RCV001006426]	Chr11:84830143..92029933 [GRCh37] Chr11:11q14.1-14.3	pathogenic
NM_032273.4(TMEM126A):c.-98C>G	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001113193]	Chr11:85647999 [GRCh38] Chr11:85359043 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV001113194]\|not provided [RCV001856494]\|not specified [RCV004678960]	Chr11:85650275 [GRCh38] Chr11:85361319 [GRCh37] Chr11:11q14.1	uncertain significance
NC_000011.10:g.85656658C>T	single nucleotide variant	not provided [RCV001643889]	Chr11:85656658 [GRCh38] Chr11:85367702 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.431T>C (p.Ile144Thr)	single nucleotide variant	not provided [RCV001207395]\|not specified [RCV004033699]	Chr11:85656344 [GRCh38] Chr11:85367388 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.395+4G>A	single nucleotide variant	not provided [RCV001041291]	Chr11:85655712 [GRCh38] Chr11:85366756 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.21TAA[1] (p.Asn8del)	microsatellite	not provided [RCV001043952]	Chr11:85650274..85650276 [GRCh38] Chr11:85361318..85361320 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.193A>G (p.Ile65Val)	single nucleotide variant	not provided [RCV001219233]	Chr11:85654169 [GRCh38] Chr11:85365213 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.426G>T (p.Gly142=)	single nucleotide variant	not provided [RCV001216951]	Chr11:85656339 [GRCh38] Chr11:85367383 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.583del (p.His195fs)	deletion	not provided [RCV001319242]	Chr11:85656496 [GRCh38] Chr11:85367540 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.36A>G (p.Ile12Met)	single nucleotide variant	not provided [RCV001300219]	Chr11:85650291 [GRCh38] Chr11:85361335 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.420_421dup (p.Lys141fs)	microsatellite	Optic atrophy 7 [RCV001331471]	Chr11:85656328..85656329 [GRCh38] Chr11:85367372..85367373 [GRCh37] Chr11:11q14.1	pathogenic
NM_032273.4(TMEM126A):c.154dup (p.Ser52fs)	duplication	not provided [RCV001348595]	Chr11:85654129..85654130 [GRCh38] Chr11:85365173..85365174 [GRCh37] Chr11:11q14.1	pathogenic\|uncertain significance
NM_032273.4(TMEM126A):c.63T>C (p.Ile21=)	single nucleotide variant	not provided [RCV001433520]	Chr11:85650318 [GRCh38] Chr11:85361362 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.440A>G (p.Tyr147Cys)	single nucleotide variant	not provided [RCV001318453]	Chr11:85656353 [GRCh38] Chr11:85367397 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.410dup (p.Leu138fs)	duplication	not provided [RCV001343670]	Chr11:85656322..85656323 [GRCh38] Chr11:85367366..85367367 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.521G>C (p.Gly174Ala)	single nucleotide variant	not provided [RCV001309779]	Chr11:85656434 [GRCh38] Chr11:85367478 [GRCh37] Chr11:11q14.1	uncertain significance
NC_000011.9:g.(?_85361300)_(85361405_?)dup	duplication	not provided [RCV001325669]	Chr11:85361300..85361405 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.80C>G (p.Ala27Gly)	single nucleotide variant	not provided [RCV001346151]\|not specified [RCV004036476]	Chr11:85650335 [GRCh38] Chr11:85361379 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.299C>A (p.Thr100Asn)	single nucleotide variant	not provided [RCV001358955]	Chr11:85655612 [GRCh38] Chr11:85366656 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.62T>G (p.Ile21Ser)	single nucleotide variant	not provided [RCV001357633]	Chr11:85650317 [GRCh38] Chr11:85361361 [GRCh37] Chr11:11q14.1	uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_032273.4(TMEM126A):c.86+13_86+15del	microsatellite	not provided [RCV001504400]	Chr11:85650351..85650353 [GRCh38] Chr11:85361395..85361397 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.281-10T>G	single nucleotide variant	not provided [RCV001399932]	Chr11:85655584 [GRCh38] Chr11:85366628 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.372T>C (p.Pro124=)	single nucleotide variant	not provided [RCV001448638]	Chr11:85655685 [GRCh38] Chr11:85366729 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.361T>C (p.Leu121=)	single nucleotide variant	not provided [RCV001446233]	Chr11:85655674 [GRCh38] Chr11:85366718 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.354T>C (p.Pro118=)	single nucleotide variant	not provided [RCV001412240]	Chr11:85655667 [GRCh38] Chr11:85366711 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.69G>A (p.Gln23=)	single nucleotide variant	not provided [RCV001409738]	Chr11:85650324 [GRCh38] Chr11:85361368 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.492G>A (p.Leu164=)	single nucleotide variant	not provided [RCV001400825]	Chr11:85656405 [GRCh38] Chr11:85367449 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.480A>G (p.Leu160=)	single nucleotide variant	not provided [RCV001403585]	Chr11:85656393 [GRCh38] Chr11:85367437 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.306C>G (p.Thr102=)	single nucleotide variant	not provided [RCV001450966]	Chr11:85655619 [GRCh38] Chr11:85366663 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.-8+121A>G	single nucleotide variant	not provided [RCV001717046]	Chr11:85648210 [GRCh38] Chr11:85359254 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.280+8C>A	single nucleotide variant	not provided [RCV001467113]	Chr11:85654264 [GRCh38] Chr11:85365308 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.87-2A>C	single nucleotide variant	not provided [RCV001378764]	Chr11:85654061 [GRCh38] Chr11:85365105 [GRCh37] Chr11:11q14.1	likely pathogenic
NM_032273.4(TMEM126A):c.87-9C>T	single nucleotide variant	not provided [RCV001489475]	Chr11:85654054 [GRCh38] Chr11:85365098 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp)	single nucleotide variant	Autosomal recessive optic atrophy, OPA7 type [RCV002259426]	Chr11:85655642 [GRCh38] Chr11:85366686 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.279A>G (p.Thr93=)	single nucleotide variant	not provided [RCV001909884]	Chr11:85654255 [GRCh38] Chr11:85365299 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.43G>A (p.Val15Ile)	single nucleotide variant	not provided [RCV001949063]	Chr11:85650298 [GRCh38] Chr11:85361342 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.492G>C (p.Leu164Phe)	single nucleotide variant	not provided [RCV001971142]	Chr11:85656405 [GRCh38] Chr11:85367449 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.106T>C (p.Ser36Pro)	single nucleotide variant	not provided [RCV002008483]	Chr11:85654082 [GRCh38] Chr11:85365126 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	copy number loss	not specified [RCV002052943]	Chr11:85324893..85757693 [GRCh37] Chr11:11q14.1-14.2	uncertain significance
NM_032273.4(TMEM126A):c.167G>A (p.Arg56His)	single nucleotide variant	not provided [RCV001986162]	Chr11:85654143 [GRCh38] Chr11:85365187 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	copy number loss	not specified [RCV002052942]	Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21	likely pathogenic
NM_032273.4(TMEM126A):c.535_537del (p.Lys179del)	deletion	not provided [RCV001890584]	Chr11:85656448..85656450 [GRCh38] Chr11:85367492..85367494 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	copy number loss	not specified [RCV002052940]	Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1	pathogenic
NM_032273.4(TMEM126A):c.461C>T (p.Pro154Leu)	single nucleotide variant	not provided [RCV001984312]	Chr11:85656374 [GRCh38] Chr11:85367418 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	copy number loss	not specified [RCV002052941]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_032273.4(TMEM126A):c.361T>G (p.Leu121Val)	single nucleotide variant	not provided [RCV001948490]	Chr11:85655674 [GRCh38] Chr11:85366718 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.350A>T (p.Tyr117Phe)	single nucleotide variant	not provided [RCV001934041]	Chr11:85655663 [GRCh38] Chr11:85366707 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.239A>C (p.Asp80Ala)	single nucleotide variant	not provided [RCV002036125]\|not specified [RCV004044778]	Chr11:85654215 [GRCh38] Chr11:85365259 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.253T>C (p.Cys85Arg)	single nucleotide variant	not provided [RCV001954036]	Chr11:85654229 [GRCh38] Chr11:85365273 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.418_421del (p.His140fs)	microsatellite	not provided [RCV002028274]	Chr11:85656329..85656332 [GRCh38] Chr11:85367373..85367376 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.410T>C (p.Leu137Pro)	single nucleotide variant	not provided [RCV002047185]	Chr11:85656323 [GRCh38] Chr11:85367367 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.337A>G (p.Ile113Val)	single nucleotide variant	not provided [RCV001878140]	Chr11:85655650 [GRCh38] Chr11:85366694 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.493C>G (p.Leu165Val)	single nucleotide variant	not provided [RCV001996037]	Chr11:85656406 [GRCh38] Chr11:85367450 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.164G>A (p.Arg55Gln)	single nucleotide variant	not provided [RCV001989451]	Chr11:85654140 [GRCh38] Chr11:85365184 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.161T>A (p.Phe54Tyr)	single nucleotide variant	not provided [RCV001924619]	Chr11:85654137 [GRCh38] Chr11:85365181 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.194T>C (p.Ile65Thr)	single nucleotide variant	not provided [RCV001907101]	Chr11:85654170 [GRCh38] Chr11:85365214 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.13A>G (p.Lys5Glu)	single nucleotide variant	not provided [RCV001989114]	Chr11:85650268 [GRCh38] Chr11:85361312 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.328G>A (p.Gly110Ser)	single nucleotide variant	not provided [RCV001995220]	Chr11:85655641 [GRCh38] Chr11:85366685 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.128C>A (p.Ala43Asp)	single nucleotide variant	not provided [RCV002009674]	Chr11:85654104 [GRCh38] Chr11:85365148 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.73C>G (p.Pro25Ala)	single nucleotide variant	not provided [RCV002031637]	Chr11:85650328 [GRCh38] Chr11:85361372 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.87-19T>G	single nucleotide variant	not provided [RCV002080065]	Chr11:85654044 [GRCh38] Chr11:85365088 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.286T>C (p.Leu96=)	single nucleotide variant	not provided [RCV002214808]	Chr11:85655599 [GRCh38] Chr11:85366643 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.280+12T>C	single nucleotide variant	not provided [RCV002077852]	Chr11:85654268 [GRCh38] Chr11:85365312 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.281-12T>C	single nucleotide variant	not provided [RCV002149933]	Chr11:85655582 [GRCh38] Chr11:85366626 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.87-17T>A	single nucleotide variant	not provided [RCV002131982]	Chr11:85654046 [GRCh38] Chr11:85365090 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.552C>T (p.Ala184=)	single nucleotide variant	not provided [RCV002153567]	Chr11:85656465 [GRCh38] Chr11:85367509 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.172T>C (p.Leu58=)	single nucleotide variant	not provided [RCV002130957]	Chr11:85654148 [GRCh38] Chr11:85365192 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.281-19T>C	single nucleotide variant	not provided [RCV002190882]	Chr11:85655575 [GRCh38] Chr11:85366619 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.281-6dup	duplication	not provided [RCV002202780]	Chr11:85655585..85655586 [GRCh38] Chr11:85366629..85366630 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.395+9_395+10delinsCG	indel	not provided [RCV002140571]	Chr11:85655717..85655718 [GRCh38] Chr11:85366761..85366762 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.240C>T (p.Asp80=)	single nucleotide variant	not provided [RCV002204328]	Chr11:85654216 [GRCh38] Chr11:85365260 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.195A>T (p.Ile65=)	single nucleotide variant	not provided [RCV002144113]	Chr11:85654171 [GRCh38] Chr11:85365215 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.315G>C (p.Arg105=)	single nucleotide variant	not provided [RCV002176094]	Chr11:85655628 [GRCh38] Chr11:85366672 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.281-13A>C	single nucleotide variant	not provided [RCV002120468]	Chr11:85655581 [GRCh38] Chr11:85366625 [GRCh37] Chr11:11q14.1	likely benign
NC_000011.9:g.(?_85339652)_(86666127_?)del	deletion	not provided [RCV003122860]	Chr11:85339652..86666127 [GRCh37] Chr11:11q14.1-14.2	pathogenic
NC_000011.9:g.(?_85339652)_(85367545_?)dup	duplication	not provided [RCV003122861]	Chr11:85339652..85367545 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.329G>C (p.Gly110Ala)	single nucleotide variant	not provided [RCV002293937]	Chr11:85655642 [GRCh38] Chr11:85366686 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.352C>T (p.Pro118Ser)	single nucleotide variant	not provided [RCV003152038]	Chr11:85655665 [GRCh38] Chr11:85366709 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	copy number loss	not provided [RCV002474501]	Chr11:80562738..88663067 [GRCh37] Chr11:11q14.1-14.3	pathogenic
NM_032273.4(TMEM126A):c.256T>C (p.Phe86Leu)	single nucleotide variant	not provided [RCV002301379]	Chr11:85654232 [GRCh38] Chr11:85365276 [GRCh37] Chr11:11q14.1	uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	copy number loss	not provided [RCV002475722]	Chr11:81478509..104667040 [GRCh37] Chr11:11q14.1-22.3	pathogenic
NM_032273.4(TMEM126A):c.278C>T (p.Thr93Ile)	single nucleotide variant	not provided [RCV003034560]	Chr11:85654254 [GRCh38] Chr11:85365298 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.573C>A (p.Gly191=)	single nucleotide variant	not provided [RCV002727145]	Chr11:85656486 [GRCh38] Chr11:85367530 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.258dup (p.Val87fs)	duplication	not provided [RCV003012355]	Chr11:85654230..85654231 [GRCh38] Chr11:85365274..85365275 [GRCh37] Chr11:11q14.1	pathogenic
NM_032273.4(TMEM126A):c.281-7_281-6del	deletion	not provided [RCV002858016]	Chr11:85655586..85655587 [GRCh38] Chr11:85366630..85366631 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.545T>C (p.Ile182Thr)	single nucleotide variant	not provided [RCV002685814]	Chr11:85656458 [GRCh38] Chr11:85367502 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.550G>C (p.Ala184Pro)	single nucleotide variant	not provided [RCV002927862]	Chr11:85656463 [GRCh38] Chr11:85367507 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.444G>T (p.Trp148Cys)	single nucleotide variant	not provided [RCV002696237]	Chr11:85656357 [GRCh38] Chr11:85367401 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.87-19T>A	single nucleotide variant	not provided [RCV002910084]	Chr11:85654044 [GRCh38] Chr11:85365088 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.405_409del (p.Ala136fs)	deletion	not provided [RCV002706048]	Chr11:85656316..85656320 [GRCh38] Chr11:85367360..85367364 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.395+11A>G	single nucleotide variant	not provided [RCV002885349]	Chr11:85655719 [GRCh38] Chr11:85366763 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.488T>C (p.Ile163Thr)	single nucleotide variant	not provided [RCV002780426]	Chr11:85656401 [GRCh38] Chr11:85367445 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.396-4dup	duplication	not provided [RCV002622778]	Chr11:85656304..85656305 [GRCh38] Chr11:85367348..85367349 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.45T>A (p.Val15=)	single nucleotide variant	not provided [RCV002735623]	Chr11:85650300 [GRCh38] Chr11:85361344 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.233C>A (p.Thr78Lys)	single nucleotide variant	not provided [RCV003036398]	Chr11:85654209 [GRCh38] Chr11:85365253 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.293G>C (p.Cys98Ser)	single nucleotide variant	not provided [RCV002691115]	Chr11:85655606 [GRCh38] Chr11:85366650 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.136T>C (p.Cys46Arg)	single nucleotide variant	not specified [RCV004168003]	Chr11:85654112 [GRCh38] Chr11:85365156 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.260dup (p.Ser88fs)	duplication	not provided [RCV002667765]	Chr11:85654235..85654236 [GRCh38] Chr11:85365279..85365280 [GRCh37] Chr11:11q14.1	pathogenic
NM_032273.4(TMEM126A):c.67C>G (p.Gln23Glu)	single nucleotide variant	not provided [RCV002918705]	Chr11:85650322 [GRCh38] Chr11:85361366 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.90T>A (p.Asn30Lys)	single nucleotide variant	not provided [RCV002791190]	Chr11:85654066 [GRCh38] Chr11:85365110 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.421A>C (p.Lys141Gln)	single nucleotide variant	not provided [RCV003057445]	Chr11:85656334 [GRCh38] Chr11:85367378 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.87-14T>A	single nucleotide variant	not provided [RCV002593870]	Chr11:85654049 [GRCh38] Chr11:85365093 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.581T>C (p.Ile194Thr)	single nucleotide variant	not provided [RCV002918932]	Chr11:85656494 [GRCh38] Chr11:85367538 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.382G>A (p.Gly128Ser)	single nucleotide variant	not provided [RCV003031331]	Chr11:85655695 [GRCh38] Chr11:85366739 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.188C>T (p.Ala63Val)	single nucleotide variant	not provided [RCV003046079]	Chr11:85654164 [GRCh38] Chr11:85365208 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.280+17T>C	single nucleotide variant	not provided [RCV002646735]	Chr11:85654273 [GRCh38] Chr11:85365317 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.351C>T (p.Tyr117=)	single nucleotide variant	not provided [RCV002658373]	Chr11:85655664 [GRCh38] Chr11:85366708 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.259G>T (p.Val87Leu)	single nucleotide variant	not provided [RCV002604552]	Chr11:85654235 [GRCh38] Chr11:85365279 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.502_503del (p.Met168fs)	deletion	not provided [RCV002604061]	Chr11:85656414..85656415 [GRCh38] Chr11:85367458..85367459 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.116T>C (p.Val39Ala)	single nucleotide variant	not provided [RCV003052063]	Chr11:85654092 [GRCh38] Chr11:85365136 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.53C>A (p.Ser18Tyr)	single nucleotide variant	not provided [RCV003049613]	Chr11:85650308 [GRCh38] Chr11:85361352 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.166C>T (p.Arg56Cys)	single nucleotide variant	not provided [RCV002590293]\|not specified [RCV004686729]	Chr11:85654142 [GRCh38] Chr11:85365186 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.437G>A (p.Ser146Asn)	single nucleotide variant	not specified [RCV004684396]	Chr11:85656350 [GRCh38] Chr11:85367394 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.449G>A (p.Arg150Lys)	single nucleotide variant	not specified [RCV004684397]	Chr11:85656362 [GRCh38] Chr11:85367406 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.333T>C (p.Leu111=)	single nucleotide variant	not provided [RCV003543882]	Chr11:85655646 [GRCh38] Chr11:85366690 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.395+11A>C	single nucleotide variant	not provided [RCV003696333]	Chr11:85655719 [GRCh38] Chr11:85366763 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.216A>G (p.Ala72=)	single nucleotide variant	not provided [RCV003661107]	Chr11:85654192 [GRCh38] Chr11:85365236 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.396-18C>A	single nucleotide variant	not provided [RCV003711793]	Chr11:85656291 [GRCh38] Chr11:85367335 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.108G>A (p.Ser36=)	single nucleotide variant	not provided [RCV003868518]	Chr11:85654084 [GRCh38] Chr11:85365128 [GRCh37] Chr11:11q14.1	likely benign
NM_032273.4(TMEM126A):c.396-8del	deletion	not provided [RCV003566919]	Chr11:85656298 [GRCh38] Chr11:85367342 [GRCh37] Chr11:11q14.1	benign
NM_032273.4(TMEM126A):c.389C>T (p.Ala130Val)	single nucleotide variant	not specified [RCV004474904]	Chr11:85655702 [GRCh38] Chr11:85366746 [GRCh37] Chr11:11q14.1	uncertain significance
NM_032273.4(TMEM126A):c.52T>C (p.Ser18Pro)	single nucleotide variant	not provided [RCV004766463]	Chr11:85650307 [GRCh38] Chr11:85361351 [GRCh37] Chr11:11q14.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	389
Count of miRNA genes:	184
Interacting mature miRNAs:	201
Transcripts:	ENST00000304511, ENST00000525353, ENST00000528105, ENST00000528531, ENST00000531366, ENST00000532180
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
1357380	BW64_H	Body weight QTL 64 (human)	2.2		Body weight	percent fat after exercise training	11	60978937	86978937	Human
407241222	GWAS890198_H	melanoma QTL GWAS890198 (human)		0.0000001	melanoma		11	85654130	85654131	Human

Markers in Region

RH48531

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	85,366,065 - 85,366,187	UniSTS	GRCh37
Build 36	11	85,043,713 - 85,043,835	RGD	NCBI36
Celera	11	82,675,380 - 82,675,502	RGD
Cytogenetic Map	11	q14.1	UniSTS
HuRef	11	81,663,359 - 81,663,481	UniSTS
GeneMap99-GB4 RH Map	11	299.07	UniSTS

RH45683

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	85,363,476 - 85,363,663	UniSTS	GRCh37
Build 36	11	85,041,124 - 85,041,311	RGD	NCBI36
Celera	11	82,672,791 - 82,672,978	RGD
Cytogenetic Map	11	q14.1	UniSTS
HuRef	11	81,660,770 - 81,660,957	UniSTS
GeneMap99-GB4 RH Map	11	299.07	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	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_017157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001244735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK312081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136941	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ943238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD366181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB454483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000304511 ⟹ ENSP00000306887

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	85,647,967 - 85,656,542 (+)	Ensembl

Ensembl Acc Id:

ENST00000525353 ⟹ ENSP00000431993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	85,647,967 - 85,656,509 (+)	Ensembl

Ensembl Acc Id:

ENST00000528105 ⟹ ENSP00000436590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	85,647,977 - 85,656,542 (+)	Ensembl

Ensembl Acc Id:

ENST00000528531

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	85,655,409 - 85,656,466 (+)	Ensembl

Ensembl Acc Id:

ENST00000531366 ⟹ ENSP00000436723

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	85,647,987 - 85,656,547 (+)	Ensembl

Ensembl Acc Id:

ENST00000532180 ⟹ ENSP00000434357

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	85,648,021 - 85,656,543 (+)	Ensembl

RefSeq Acc Id:

NM_001244735 ⟹ NP_001231664

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	85,647,967 - 85,656,542 (+)	NCBI
GRCh37	11	85,358,963 - 85,367,597 (+)	NCBI
HuRef	11	81,656,256 - 81,664,891 (+)	NCBI
CHM1_1	11	85,243,754 - 85,252,388 (+)	NCBI
T2T-CHM13v2.0	11	85,584,644 - 85,593,220 (+)	NCBI

Sequence:

show sequence

ACGCCGCGTCACGAGTCAGCCAAAGATGGCTGCGCCCAGGTAATTTGAGCAAAGGCCACAGTGA
ACTCCGGCGTGGCTGAGGAAGGAGGAGGCACCCACAGGCTGCTGGGAGGAGAGCATAAGGAATC
TACTTGAAAATGGATCGGTTTATGTTGGATTAAATGCTGCTCTTTGTGGCCTCATAGCAAACAG
TCTTTTTCGACGCATCTTGAATGTGACAAAGGCTCGCATAGCTGCTGGCTTACCAATGGCAGGG
ATACCTTTTCTTACAACAGACTTAACTTACAGATGTTTTGTAAGTTTTCCTTTGAATACAGGTG
ATTTGGATTGTGAAACCTGTACCATAACACGGAGTGGACTGACTGGTCTTGTTATTGGTGGTCT
ATACCCTGTTTTCTTGGCTATACCTGTAAATGGTGGTCTAGCAGCCAGGTATCAATCAGCTCTG
TTACCACACAAAGGGAACATCTTAAGTTACTGGATTAGAACTTCTAAGCCTGTCTTTAGAAAGA
TGTTATTTCCTATTTTGCTCCAGACTATGTTTTCAGCATACCTTGGGTCTGAACAATATAAACT
ACTTATAAAGGCCCTTCAGTTATCTGAACCTGGCAAAGAAATTCACTGATTTTAAACAAATATG
TAAACAAAAATAAAATGGTAAAAACA

hide sequence

RefSeq Acc Id:

NM_032273 ⟹ NP_115649

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	85,647,967 - 85,656,542 (+)	NCBI
GRCh37	11	85,358,963 - 85,367,597 (+)	RGD
Build 36	11	85,036,693 - 85,045,235 (+)	NCBI Archive
Celera	11	82,668,277 - 82,676,912 (+)	RGD
HuRef	11	81,656,256 - 81,664,891 (+)	ENTREZGENE
CHM1_1	11	85,243,754 - 85,252,388 (+)	NCBI
T2T-CHM13v2.0	11	85,584,644 - 85,593,220 (+)	NCBI

Sequence:

show sequence

ACGCCGCGTCACGAGTCAGCCAAAGATGGCTGCGCCCAGGTAATTTGAGCAAAGGCCACAGTGA
ACTCCGGCGTGGCTGAGGAAGGAGGAGGCACCCACAGGCTGCTGGGAGGAGAGCATAAGGCTCA
AAATGGAAAATCATAAATCCAATAATAAGGAAAACATAACAATTGTTGATATATCCAGAAAAAT
TAACCAGCTTCCAGAAGCAGAAAGGAATCTACTTGAAAATGGATCGGTTTATGTTGGATTAAAT
GCTGCTCTTTGTGGCCTCATAGCAAACAGTCTTTTTCGACGCATCTTGAATGTGACAAAGGCTC
GCATAGCTGCTGGCTTACCAATGGCAGGGATACCTTTTCTTACAACAGACTTAACTTACAGATG
TTTTGTAAGTTTTCCTTTGAATACAGGTGATTTGGATTGTGAAACCTGTACCATAACACGGAGT
GGACTGACTGGTCTTGTTATTGGTGGTCTATACCCTGTTTTCTTGGCTATACCTGTAAATGGTG
GTCTAGCAGCCAGGTATCAATCAGCTCTGTTACCACACAAAGGGAACATCTTAAGTTACTGGAT
TAGAACTTCTAAGCCTGTCTTTAGAAAGATGTTATTTCCTATTTTGCTCCAGACTATGTTTTCA
GCATACCTTGGGTCTGAACAATATAAACTACTTATAAAGGCCCTTCAGTTATCTGAACCTGGCA
AAGAAATTCACTGATTTTAAACAAATATGTAAACAAAAATAAAATGGTAAAAACA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001231664	(Get FASTA)	NCBI Sequence Viewer
	NP_115649	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH07875	(Get FASTA)	NCBI Sequence Viewer
	BAG35017	(Get FASTA)	NCBI Sequence Viewer
	CAB66875	(Get FASTA)	NCBI Sequence Viewer
	EAW75102	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000306887
	ENSP00000306887.2
	ENSP00000431993.1
	ENSP00000434357.1
	ENSP00000436590
	ENSP00000436590.1
	ENSP00000436723.1
GenBank Protein	Q9H061	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_115649 ⟸ NM_032273
- Peptide Label:	isoform 1
- UniProtKB:	B2R570 (UniProtKB/Swiss-Prot), E9PI16 (UniProtKB/Swiss-Prot), Q9H061 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKAR IAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGG LAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGK EIH hide sequence

RefSeq Acc Id:	NP_001231664 ⟸ NM_001244735
- Peptide Label:	isoform 2
- UniProtKB:	Q9H061 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQ SALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH hide sequence

Ensembl Acc Id:

ENSP00000436723 ⟸ ENST00000531366

Ensembl Acc Id:

ENSP00000434357 ⟸ ENST00000532180

Ensembl Acc Id:

ENSP00000431993 ⟸ ENST00000525353

Ensembl Acc Id:

ENSP00000436590 ⟸ ENST00000528105

Ensembl Acc Id:

ENSP00000306887 ⟸ ENST00000304511

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H061-F1-model_v2	AlphaFold	Q9H061	1-195	view protein structure

Promoters

RGD ID:

6789438

Promoter ID:

HG_KWN:13864

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:

NM_032273

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	85,036,379 - 85,036,879 (+)	MPROMDB

RGD ID:

6810188

Promoter ID:

HG_ACW:13665

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

TMEM126A.EAPR07, TMEM126A.FAPR07-UNSPLICED, TMEM126A.GAPR07-UNSPLICED

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	85,042,651 - 85,043,151 (+)	MPROMDB

RGD ID:

7221715

Promoter ID:

EPDNEW_H16603

Type:

initiation region

Name:

TMEM126A_1

Description:

transmembrane protein 126A

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	85,647,967 - 85,648,027	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25382	AgrOrtholog
COSMIC	TMEM126A	COSMIC
Ensembl Genes	ENSG00000171202	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000304511	ENTREZGENE
	ENST00000304511.7	UniProtKB/Swiss-Prot
	ENST00000525353.5	UniProtKB/TrEMBL
	ENST00000528105	ENTREZGENE
	ENST00000528105.5	UniProtKB/Swiss-Prot
	ENST00000531366.5	UniProtKB/TrEMBL
	ENST00000532180.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000171202	GTEx
HGNC ID	HGNC:25382	ENTREZGENE
Human Proteome Map	TMEM126A	Human Proteome Map
InterPro	TMEM126	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:84233	UniProtKB/Swiss-Prot
NCBI Gene	84233	ENTREZGENE
OMIM	612988	OMIM
PANTHER	PTHR16296	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRANSMEMBRANE PROTEIN 126A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TMEM126	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA143485645	PharmGKB
UniProt	B2R570	ENTREZGENE
	E9PI16	ENTREZGENE
	E9PI90_HUMAN	UniProtKB/TrEMBL
	E9PIH8_HUMAN	UniProtKB/TrEMBL
	Q9H061	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B2R570	UniProtKB/Swiss-Prot
	E9PI16	UniProtKB/Swiss-Prot

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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