MTRF1L (mitochondrial translation release factor 1 like)

Gene: MTRF1L (mitochondrial translation release factor 1 like) Homo sapiens

Analyze

Symbol:

MTRF1L

Name:

mitochondrial translation release factor 1 like

RGD ID:

1316759

HGNC Page

HGNC:21051

Description:

Enables translation release factor activity, codon specific. Involved in mitochondrial translational termination. Is active in mitochondrion.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

HMRF1L; MGC102748; mitochondrial release factor 1 like; mitochondrial translational release factor 1 like; mitochondrial translational release factor 1-like; MRF1L; mtRF1a; peptide chain release factor 1-like, mitochondrial

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

LOC285442 MTRF1LP1 MTRF1LP2

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	152,987,362 - 153,002,709 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	152,987,362 - 153,002,709 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	153,308,497 - 153,323,844 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	153,351,363 - 153,365,540 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	153,401,783 - 153,415,961	NCBI
Celera	6	154,042,070 - 154,057,593 (-)	NCBI		Celera
Cytogenetic Map	6	q25.2	NCBI
HuRef	6	150,871,194 - 150,886,723 (-)	NCBI		HuRef
CHM1_1	6	153,572,324 - 153,587,844 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	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

autosomal recessive spinocerebellar ataxia 8 (IAGP)

chromosome 6q24-q25 deletion syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

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

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

5-aza-2'-deoxycytidine (EXP)

acrylamide (EXP)

aflatoxin B1 (ISO)

antirheumatic drug (EXP)

Aroclor 1254 (ISO)

beauvericin (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

copper(II) sulfate (EXP)

disodium selenite (EXP)

doxorubicin (EXP)

endosulfan (ISO)

enniatin (EXP)

fenvalerate (ISO)

flutamide (ISO)

furan (ISO)

paracetamol (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

resveratrol (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

triptonide (ISO)

urethane (EXP)

valproic acid (EXP)

vincristine (EXP)

zebularine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

mitochondrial translational termination (IBA,IDA)

translation (IEA)

translational termination (IEA)

Cellular Component

mitochondrial matrix (TAS)

mitochondrion (IBA,IDA,IEA)

Molecular Function

translation release factor activity (IDA,IEA)

translation release factor activity, codon specific (IDA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:11256614	PMID:12477932	PMID:14702039	PMID:16344560	PMID:17207965	PMID:17803939	PMID:18429816	PMID:18541145	PMID:18978678	PMID:20075246	PMID:20421313
PMID:20598281	PMID:20877624	PMID:21873635	PMID:23535732	PMID:26186194	PMID:26344197	PMID:28514442	PMID:29568061	PMID:30021884	PMID:31056398	PMID:32628020	PMID:32877691
PMID:33878294	PMID:33961781	PMID:34079125	PMID:34428256	PMID:35256949

Genomics

Comparative Map Data

MTRF1L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	152,987,362 - 153,002,709 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	152,987,362 - 153,002,709 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	153,308,497 - 153,323,844 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	153,351,363 - 153,365,540 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	153,401,783 - 153,415,961	NCBI
Celera	6	154,042,070 - 154,057,593 (-)	NCBI		Celera
Cytogenetic Map	6	q25.2	NCBI
HuRef	6	150,871,194 - 150,886,723 (-)	NCBI		HuRef
CHM1_1	6	153,572,324 - 153,587,844 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	NCBI		T2T-CHM13v2.0

Mtrf1l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	5,760,151 - 5,775,015 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	5,761,887 - 5,773,910 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	5,811,119 - 5,825,015 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	5,811,887 - 5,823,910 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	4,522,598 - 4,534,654 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	4,522,631 - 4,533,477 (+)	NCBI		MGSCv36	mm8
Celera	10	5,745,851 - 5,757,938 (-)	NCBI		Celera
Cytogenetic Map	10	A1	NCBI
cM Map	10	1.91	NCBI

Mtrf1l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	44,614,162 - 44,626,367 (-)	NCBI		GRCr8
mRatBN7.2	1	42,208,553 - 42,221,020 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	42,210,583 - 42,220,836 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	42,752,788 - 42,763,032 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	48,739,981 - 48,750,224 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	42,828,253 - 42,838,496 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	42,475,791 - 42,485,999 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	42,475,792 - 42,486,035 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	43,805,701 - 43,815,909 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	36,506,648 - 36,516,899 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	37,877,868 - 37,888,122 (-)	NCBI		Celera
Cytogenetic Map	1	q11	NCBI

Mtrf1l
(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_004955439	8,809,617 - 8,823,762 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955439	8,809,545 - 8,824,442 (+)	NCBI	ChiLan1.0	ChiLan1.0

MTRF1L
(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	173,017,023 - 173,031,673 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	170,909,381 - 170,924,526 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	150,810,353 - 150,825,162 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	155,498,473 - 155,513,916 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	155,498,473 - 155,513,910 (-)	Ensembl	panpan1.1		panPan2

MTRF1L
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	43,155,285 - 43,166,707 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	43,155,419 - 43,166,691 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	43,987,525 - 44,004,328 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	43,333,358 - 43,350,246 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	43,336,148 - 43,350,213 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	43,200,825 - 43,217,696 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	43,064,255 - 43,081,122 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	43,551,975 - 43,568,851 (-)	NCBI		UU_Cfam_GSD_1.0

Mtrf1l
(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	138,351,833 - 138,364,410 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936489	5,606,939 - 5,616,275 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936489	5,606,663 - 5,616,437 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MTRF1L
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	13,446,492 - 13,458,287 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	13,443,602 - 13,458,291 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	15,696,595 - 15,708,417 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MTRF1L
(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	13	80,471,605 - 80,487,887 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	13	80,472,958 - 80,487,797 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	52,795,883 - 52,812,748 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mtrf1l
(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_004624785	5,226,805 - 5,242,671 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624785	5,226,894 - 5,240,615 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MTRF1L
21 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	copy number gain	See cases [RCV000050604]	Chr6:141132990..169339571 [GRCh38] Chr6:141454127..169739666 [GRCh37] Chr6:141495820..169481591 [NCBI36] Chr6:6q24.1-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|See cases [RCV000051902]	Chr6:152376338..170583214 [GRCh38] Chr6:152697473..170892302 [GRCh37] Chr6:152739166..170734227 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	copy number gain	See cases [RCV000136826]	Chr6:135358150..155455117 [GRCh38] Chr6:135679288..155776251 [GRCh37] Chr6:135720981..155817943 [NCBI36] Chr6:6q23.3-25.3	pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	copy number loss	See cases [RCV000139578]	Chr6:150381239..159553952 [GRCh38] Chr6:150702375..159974984 [GRCh37] Chr6:150744068..159894974 [NCBI36] Chr6:6q25.1-25.3	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	copy number loss	See cases [RCV000141880]	Chr6:152793402..170610394 [GRCh38] Chr6:153114537..170919482 [GRCh37] Chr6:153156230..170761407 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	copy number gain	See cases [RCV000142594]	Chr6:152376338..170612001 [GRCh38] Chr6:152697473..170921089 [GRCh37] Chr6:152739166..170763014 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	copy number gain	See cases [RCV000143444]	Chr6:133537271..165875545 [GRCh38] Chr6:133858409..166289033 [GRCh37] Chr6:133900102..166209023 [NCBI36] Chr6:6q23.2-27	pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	copy number gain	See cases [RCV000449011]	Chr6:151214792..170892243 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6q25.2(chr6:152702696-153345479)x4	copy number gain	See cases [RCV000240317]	Chr6:152702696..153345479 [GRCh37] Chr6:6q25.2	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
NC_000006.12:g.(?_152122416)_(153426916_?)del	deletion	Autosomal recessive ataxia, Beauce type [RCV000647733]	Chr6:152122416..153426916 [GRCh38] Chr6:152443551..153748051 [GRCh37] Chr6:6q25.2	pathogenic
NM_019041.7(MTRF1L):c.600C>A (p.His200Gln)	single nucleotide variant	not specified [RCV004309442]	Chr6:152994600 [GRCh38] Chr6:153315735 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.1109A>C (p.Glu370Ala)	single nucleotide variant	not specified [RCV004322057]	Chr6:152989929 [GRCh38] Chr6:153311064 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.785G>A (p.Arg262Gln)	single nucleotide variant	not specified [RCV004317675]	Chr6:152992877 [GRCh38] Chr6:153314012 [GRCh37] Chr6:6q25.2	uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	complex	Coffin-Siris syndrome 1 [RCV000714957]	Chr6:151443333..171115067 [GRCh37] Chr6:6q25.1-27	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 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3	copy number gain	not provided [RCV000746100]	Chr6:150284435..170919470 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6q25.2(chr6:153285650-153330704)x3	copy number gain	not provided [RCV000746115]	Chr6:153285650..153330704 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q25.2(chr6:153285650-153344133)x3	copy number gain	not provided [RCV000746116]	Chr6:153285650..153344133 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q25.2(chr6:153290888-153337131)x3	copy number gain	not provided [RCV000746117]	Chr6:153290888..153337131 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q25.2(chr6:153291865-153349379)x3	copy number gain	not provided [RCV000746118]	Chr6:153291865..153349379 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q25.2(chr6:153291923-153333328)x3	copy number gain	not provided [RCV000746119]	Chr6:153291923..153333328 [GRCh37] Chr6:6q25.2	benign
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	copy number gain	not provided [RCV000846496]	Chr6:148195086..160127254 [GRCh37] Chr6:6q24.3-25.3	pathogenic
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	copy number loss	not provided [RCV001005856]	Chr6:149431322..154120064 [GRCh37] Chr6:6q25.1-25.2	pathogenic
NM_019041.7(MTRF1L):c.1006G>A (p.Asp336Asn)	single nucleotide variant	not specified [RCV004303122]	Chr6:152990032 [GRCh38] Chr6:153311167 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.191T>C (p.Leu64Ser)	single nucleotide variant	not specified [RCV004303910]	Chr6:153002495 [GRCh38] Chr6:153323630 [GRCh37] Chr6:6q25.2	uncertain significance
GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	copy number gain	not provided [RCV001258753]	Chr6:151472860..154839846 [GRCh37] Chr6:6q25.1-25.2	likely pathogenic
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	copy number loss	not specified [RCV002053640]	Chr6:153207930..164322346 [GRCh37] Chr6:6q25.2-26	pathogenic
GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	copy number loss	not specified [RCV002053639]	Chr6:153180239..156377315 [GRCh37] Chr6:6q25.2-25.3	uncertain significance
NM_019041.7(MTRF1L):c.1088T>G (p.Leu363Trp)	single nucleotide variant	not specified [RCV004171055]	Chr6:152989950 [GRCh38] Chr6:153311085 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.244G>A (p.Glu82Lys)	single nucleotide variant	not specified [RCV004118168]	Chr6:153002442 [GRCh38] Chr6:153323577 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.535C>T (p.His179Tyr)	single nucleotide variant	not specified [RCV004225240]	Chr6:152994665 [GRCh38] Chr6:153315800 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.556G>T (p.Gly186Cys)	single nucleotide variant	not specified [RCV004217998]	Chr6:152994644 [GRCh38] Chr6:153315779 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.944T>G (p.Ile315Ser)	single nucleotide variant	not specified [RCV004117378]	Chr6:152990094 [GRCh38] Chr6:153311229 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.194T>C (p.Leu65Pro)	single nucleotide variant	not specified [RCV004192590]	Chr6:153002492 [GRCh38] Chr6:153323627 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.1112C>A (p.Ser371Tyr)	single nucleotide variant	not specified [RCV004152997]	Chr6:152989926 [GRCh38] Chr6:153311061 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.649A>G (p.Ser217Gly)	single nucleotide variant	not specified [RCV004115047]	Chr6:152994551 [GRCh38] Chr6:153315686 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.154G>A (p.Gly52Arg)	single nucleotide variant	not specified [RCV004179607]	Chr6:153002532 [GRCh38] Chr6:153323667 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.794A>G (p.His265Arg)	single nucleotide variant	not specified [RCV004147165]	Chr6:152992868 [GRCh38] Chr6:153314003 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.811G>C (p.Val271Leu)	single nucleotide variant	not specified [RCV004134681]	Chr6:152991316 [GRCh38] Chr6:153312451 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.868A>G (p.Lys290Glu)	single nucleotide variant	not specified [RCV004259187]	Chr6:152991259 [GRCh38] Chr6:153312394 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.995A>G (p.Asn332Ser)	single nucleotide variant	not specified [RCV004269307]	Chr6:152990043 [GRCh38] Chr6:153311178 [GRCh37] Chr6:6q25.2	uncertain significance
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	copy number loss	Coffin-Siris syndrome 1 [RCV003327723]	Chr6:150905553..158511926 [GRCh38] Chr6:6q25.1-25.3	pathogenic
NM_019041.7(MTRF1L):c.86G>A (p.Gly29Asp)	single nucleotide variant	not specified [RCV004345964]	Chr6:153002600 [GRCh38] Chr6:153323735 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.143A>C (p.Glu48Ala)	single nucleotide variant	not specified [RCV004510042]	Chr6:153002543 [GRCh38] Chr6:153323678 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.253C>A (p.Leu85Met)	single nucleotide variant	not specified [RCV004510056]	Chr6:153002433 [GRCh38] Chr6:153323568 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.907G>A (p.Glu303Lys)	single nucleotide variant	not specified [RCV004510086]	Chr6:152991220 [GRCh38] Chr6:153312355 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.1031A>T (p.His344Leu)	single nucleotide variant	not specified [RCV004510027]	Chr6:152990007 [GRCh38] Chr6:153311142 [GRCh37] Chr6:6q25.2	uncertain significance
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	copy number gain	not specified [RCV003986631]	Chr6:119840686..156623091 [GRCh37] Chr6:6q22.31-25.3	pathogenic
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	copy number loss	See cases [RCV004442824]	Chr6:152853218..170914297 [GRCh37] Chr6:6q25.2-27	pathogenic
NC_000006.12:g.(?_150381239)_(159553952_?)del	deletion	Chromosome 6q24-q25 deletion syndrome [RCV003884000]	Chr6:150381239..159553952 [GRCh38] Chr6:6q25.1-25.3	pathogenic
NM_019041.7(MTRF1L):c.313A>G (p.Lys105Glu)	single nucleotide variant	not specified [RCV004510059]	Chr6:152998576 [GRCh38] Chr6:153319711 [GRCh37] Chr6:6q25.2	uncertain significance
NM_019041.7(MTRF1L):c.749G>C (p.Gly250Ala)	single nucleotide variant	not specified [RCV004510070]	Chr6:152992913 [GRCh38] Chr6:153314048 [GRCh37] Chr6:6q25.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3913
Count of miRNA genes:	761
Interacting mature miRNAs:	852
Transcripts:	ENST00000367230, ENST00000367231, ENST00000367233, ENST00000414771, ENST00000448966, ENST00000461949, ENST00000463251, ENST00000464135, ENST00000482526, ENST00000485283, ENST00000485512
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

G31005

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	153,325,658 - 153,325,800	UniSTS	GRCh37
Build 36	6	153,367,351 - 153,367,493	RGD	NCBI36
Celera	6	154,059,326 - 154,059,468	RGD
Cytogenetic Map	6	q25-q26	UniSTS
HuRef	6	150,888,456 - 150,888,598	UniSTS

RH40925

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	153,309,334 - 153,309,474	UniSTS	GRCh37
GRCh37	4	189,662,205 - 189,662,345	UniSTS	GRCh37
Build 36	4	189,899,199 - 189,899,339	RGD	NCBI36
Celera	6	154,043,004 - 154,043,144	UniSTS
Celera	4	186,969,330 - 186,969,470	RGD
Cytogenetic Map	4	q35.2	UniSTS
Cytogenetic Map	6	q25-q26	UniSTS
HuRef	6	150,872,128 - 150,872,268	UniSTS
HuRef	4	185,390,166 - 185,390,306	UniSTS

RH46856

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	153,309,795 - 153,309,942	UniSTS	GRCh37
GRCh37	4	189,661,736 - 189,661,883	UniSTS	GRCh37
Build 36	4	189,898,730 - 189,898,877	RGD	NCBI36
Celera	6	154,043,466 - 154,043,613	UniSTS
Celera	4	186,968,861 - 186,969,008	RGD
Cytogenetic Map	4	q35.2	UniSTS
Cytogenetic Map	6	q25-q26	UniSTS
HuRef	6	150,872,591 - 150,872,738	UniSTS
HuRef	4	185,389,696 - 185,389,843	UniSTS

SHGC-64052

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	153,309,864 - 153,309,959	UniSTS	GRCh37
GRCh37	4	189,661,719 - 189,661,814	UniSTS	GRCh37
Build 36	4	189,898,713 - 189,898,808	RGD	NCBI36
Celera	6	154,043,535 - 154,043,630	UniSTS
Celera	4	186,968,844 - 186,968,939	RGD
Cytogenetic Map	4	q35.2	UniSTS
Cytogenetic Map	6	q25-q26	UniSTS
HuRef	6	150,872,660 - 150,872,755	UniSTS
HuRef	4	185,389,679 - 185,389,774	UniSTS

SHGC-31292

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	153,310,968 - 153,311,081	UniSTS	GRCh37
GRCh37	4	189,660,597 - 189,660,710	UniSTS	GRCh37
Build 36	4	189,897,591 - 189,897,704	RGD	NCBI36
Celera	4	186,967,722 - 186,967,835	RGD
Celera	6	154,044,639 - 154,044,752	UniSTS
Cytogenetic Map	6	q25-q26	UniSTS
Cytogenetic Map	4	q35.2	UniSTS
HuRef	4	185,388,558 - 185,388,671	UniSTS
HuRef	6	150,873,765 - 150,873,878	UniSTS
GeneMap99-G3 RH Map	6	6440.0	UniSTS

RH46684

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	153,310,919 - 153,311,081	UniSTS	GRCh37
GRCh37	4	189,660,597 - 189,660,759	UniSTS	GRCh37
Build 36	4	189,897,591 - 189,897,753	RGD	NCBI36
Celera	4	186,967,722 - 186,967,884	RGD
Cytogenetic Map	6	q25-q26	UniSTS
Cytogenetic Map	4	q35.2	UniSTS
HuRef	4	185,388,558 - 185,388,720	UniSTS
HuRef	6	150,873,716 - 150,873,878	UniSTS
GeneMap99-GB4 RH Map	6	604.11	UniSTS
NCBI RH Map	6	1610.7	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

699

726

320

465

100

1031

408

573

254

554

689

310

589

Low

1740

2237

1406

526

1461

365

3326

1786

3161

165

906

924

160

894

2199

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001114184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001301047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001301870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001301871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001301872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_019041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_126056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418905	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418907	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355683	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001743474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_245540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI434611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI479199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI628793	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095240	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL080276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX877179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC105973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU853336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX105260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX376520	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA152954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000367230 ⟹ ENSP00000356199

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,987,362 - 153,002,685 (-)	Ensembl

RefSeq Acc Id:

ENST00000367231 ⟹ ENSP00000356200

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,987,362 - 153,002,685 (-)	Ensembl

RefSeq Acc Id:

ENST00000367233 ⟹ ENSP00000356202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,987,362 - 153,002,709 (-)	Ensembl

RefSeq Acc Id:

ENST00000414771 ⟹ ENSP00000414383

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,987,362 - 152,995,319 (-)	Ensembl

RefSeq Acc Id:

ENST00000448966 ⟹ ENSP00000415113

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,991,228 - 152,994,808 (-)	Ensembl

RefSeq Acc Id:

ENST00000461949

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,987,362 - 152,994,642 (-)	Ensembl

RefSeq Acc Id:

ENST00000463251

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,991,185 - 153,002,685 (-)	Ensembl

RefSeq Acc Id:

ENST00000464135

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,987,362 - 153,002,685 (-)	Ensembl

RefSeq Acc Id:

ENST00000482526

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,998,293 - 153,002,536 (-)	Ensembl

RefSeq Acc Id:

ENST00000485283

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,991,185 - 152,998,742 (-)	Ensembl

RefSeq Acc Id:

ENST00000485512

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	152,987,362 - 153,002,685 (-)	Ensembl

RefSeq Acc Id:

NM_001114184 ⟹ NP_001107656

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 153,002,709 (-)	NCBI
GRCh37	6	153,308,400 - 153,323,925 (-)	RGD
Celera	6	154,042,070 - 154,057,593 (-)	RGD
HuRef	6	150,871,194 - 150,886,723 (-)	ENTREZGENE
CHM1_1	6	153,572,425 - 153,587,869 (-)	NCBI
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	NCBI

Sequence:

show sequence

AGGGTCCGCGATCTCGGACTAAGGATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCT
GGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGA
GCTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCAT
TTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTGCTGAACGAGAAGGAGCGGGAGC
TGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGA
AATCACTTTGTGTCAAAAAGAAATAACTCAGCTGAAGCATCAGATTATCTTACTTTTGGTTCCC
TCAGAAGAAACAGATGAAAATGATTTGATCCTGGAAGTAACTGCAGGAGTTGGAGGTCAGGAGG
CAATGTTGTTTACATCAGAGATATTTGATATGTATCAGCAATATGCTGCATTTAAAAGATGGCA
TTTTGAAACCCTGGAATATTTTCCAAGTGAACTAGGTGGCCTTAGACATGCATCTGCCAGCATT
GGGGGTTCAGAAGCCTATAGGCACATGAAATTTGAAGGAGGTGTTCACAGAGTACAAAGAGTGC
CAAAGACAGAAAAGCAAGGCCGCGTCCATACTAGCACCATGACTGTAGCAATATTACCCCAGCC
TACTGAGATTAATCTGGTGATTAATCCGAAAGATTTGAGAATTGACACTAAGCGAGCCAGTGGA
GCTGGGGGGCAGCATGTAAATACCACGGACAGTGCTGTCCGGATAGTTCATCTTCCAACAGATT
GGAAGTAAAGGAAGATCAGAGAAAATAAGAACATATAATTTTCCACAGAACCGGGTCACAGATC
ACAGAATAAACAAGACGCTGCATGATCTTGAAACTTTTATGCAAGGAGATTATCTACTGGATGA
ACTTGTACAGTCATTGAAGGAATACGCCGATTATGAATCTTTAGTAGAAATTATTTCCCAAAAA
GTTTAAGTTGATTTGTTATTTATAGACTTTCGTAGCTTAGAAAAATTCTACAGTACATCCACAT
AGGGTGAAAGTACCCTTACTCTCTTGAAAAACGTTGAGTTAACACAGTTGGAGGTAATATGCAT
ATTCTGAAGTCATAGATAATTTACACAGATCTCTCTCAATGCATTAGCAAAAATCATACAATAT
ACAGATGGTCCTCGATTTACATTGTGGTTAATTCCCAATAAACCCATCATAAGTTAAAAATGCA
TATAACGTTAGCAACACAGCAGTCTCCTAATTAATGACAGCTTGACTTAACAATTTTCCAACTT
TACCATGGTGTGAAAGAGGTATGATTCCTAAGCCCTAAGGAGCTCCTCAGCTTGAAATGGGGCT
GCATCCCTATAAACCCATCATAAAGTCAAAAAATCCTAAAACATAAGTTGGTGACCATCTGTAA
TCATGATGTGGTGGTAAATCTTGGACGCTACCTTACAATAACTAGACAAAGGAAAATCATCCTT
TGTCCTGTTCTGTGTAAATATTTAATGAATGATCAAAACTTCAGTTTAAATATTATGAAAAACT
TTAAACATAAAGTAGTAGAAATAAGACAGTAAATACTGTATCCTAATATCCAGTCAGGATACAG
AAACCATACCATTAACTTGAACAGGGATAATTTTAATATAAAAACTGTTAACTGATAATGGTAT
TAACTTTTAAGAGGGATGAAAGAGAGCTATGATGTCCTAGGACTGAGAGTACCCCAGGAAAGAA
TACCCTTGAAAGGGTCTCCCCTTCCCCATGGTGAAGTCAGGCCTAATGGAGAGAGTGGCTACAG
CCTACTCAGTGATTGGGAAATTCCCTGTCTTGCCCTGGGCCAGAGCTGGTGTACCGCTGGTGGA
TCAGGTCTTACAAGCAAAGAACCTCACACTCCCAACTGGTAAGCCAGAAGCCTCTTGCTAGGGT
GTGAGCAAAACTTGGACAGGAACTCTCAGTAGATGTTTGTGTTTGTCAAGATTCTCCAGACAAA
CTTCCTTAAAAGGATTGGCTTGTGTTGTTATTATTAAGTCTAACAAGTCCAAAAGCTGGAGTGT
GAGGCAGGAGGCTGGAAACCCAGGAAAGCTGATGGTGCAAGGTCCAGTCCAAAGGTATCTGTTG
GAGGATTCTCTTGTTCTGGGAAGAGGACGGTCTTTTTTTCTCTTCAGACCTTCACCTGACTGGA
TCAAGCCCACTAACATCGAGGAGGACAGTCTGCATTACTCAGAGTTCACTGATTGATTTAAATG
TCAATCTCATATAAAACACCCTCACAGAAACACCTAGAATAATGTTTGACCTTATAATTGGAAA
ATCAGAGCAAAAGTTAAATCTCAAAAAAAAAAAAAAAAAAAGTATGACCCAGTAGCTAGGCACC
TGTGGCCCCGCCAAGTTGACACATAAAATTAACTGTCACAGTATCATCTTAGAAGTGAAAGAAG
CCCCTTTATCCTGCAGTGCCCCTCTACCACCACCTACTGACAAAGAACATGGTGCTATCTGGCA
TGGGAGAAATGTTCAGTTTGCTATGGCTTGTATGTGTCCCCTCAAATTCAAGTGTTGCCAATGT
GACAGCATCAAGAGGTGGGGTCTTTAAGAGATCACTAGGCCATGAGGGATTCTCTTAGGACTGG
GATGAAGGCCCATAATAAAAGAGGTTTCGGGGAGCATCCTGCTAGCTTGCCTTCTGTATGTGAG
AACACAGCAAGAAAGCCCTAGTCAACAAGTGCCAGCTCCTTGATCTTAGACTTCCCATCCTCCA
GAACTGTGAGAAATACATTTCTGTTCCTTACAAATTACCCAGTCTCCTGTATTCTGTTATAGCA
GCACAAAATGAAGATACCATACCTGAACACCTGAACATTCTTCACAAGGTAGTAAATGCACTGC
TTTATTCTGGTCTCAGTATTGTGTGCTTAATAAGGAAATGAGAAAGGGTGGATCAGGGCATAGG
ATGAACAAGTTACTGCTAGACCTCTCACAATGCCACTAATGGATAAGATTGTATTTTCATCATT
CTTGTCTCTTCGGAAGCTAACACCATGCTATAATAGGCACTAAATAGATGTCTAAAAACACCTT
AAGTATTTGTCTAGAAATCTGGTGCATTGTTCAGAAAGAACCAAAATTCAAAATAATTTCAAAG
GGCCTAAAGCACTAGTTAATCAAAATTCATTAGTTTTTAATGGTACTACCACTCTCAAATTTAA
AATGTCATCTTACGTTCCTCTTCCTCGCATTGGATTTATTGCTAAAACCTGGTAAACACTTTTA
ATCCTTTTCAATTCCATTACCACTGCTCTTGTCCAGAATTACTTCGCAGACTAATAGTCACCTG
ACTTCTCCCCTGCATCCGATTTGCTGTCTAATTCTGGTTACAAATAAGTAACTGCCAAACTAAT
CTTTCTAAAAAGCAAGACTGATCTCGTCACTCCTTTGCTCAACAATGTAAAAGCTCCCATTGTC
TCCCAAATAAAACCAGCTTTCCACTGTGTATACAATACATCCA

hide sequence

RefSeq Acc Id:

NM_001301047 ⟹ NP_001287976

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 153,002,709 (-)	NCBI
CHM1_1	6	153,572,425 - 153,587,869 (-)	NCBI
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	NCBI

Sequence:

show sequence

AGGGTCCGCGATCTCGGACTAAGGATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCT
GGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGA
GCTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCAT
TTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTGCTGAACGAGAAGGAGCGGGAGC
TGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGA
AATCACTTTGTGTCAAAAAGAAATAACTCAGCTGAAGCATCAGATTATCTTACTTTTGGTTCCC
TCAGAAGAAACAGATGAAAATGATTTGATCCTGGAAGTAACTGCAGGAGTTGGAGGTGGCCTTA
GACATGCATCTGCCAGCATTGGGGGTTCAGAAGCCTATAGGCACATGAAATTTGAAGGAGGTGT
TCACAGAGTACAAAGAGTGCCAAAGACAGAAAAGCAAGGCCGCGTCCATACTAGCACCATGACT
GTAGCAATATTACCCCAGCCTACTGAGATTAATCTGGTGATTAATCCGAAAGATTTGAGAATTG
ACACTAAGCGAGCCAGTGGAGCTGGGGGGCAGCATGTAAATACCACGGACAGTGCTGTCCGGAT
AGTTCATCTTCCAACAGATTGGAAGTAAAGGAAGATCAGAGAAAATAAGAACATATAATTTTCC
ACAGAACCGGGTCACAGATCACAGAATAAACAAGACGCTGCATGATCTTGAAACTTTTATGCAA
GGAGATTATCTACTGGATGAACTTGTACAGTCATTGAAGGAATACGCCGATTATGAATCTTTAG
TAGAAATTATTTCCCAAAAAGTTTAAGTTGATTTGTTATTTATAGACTTTCGTAGCTTAGAAAA
ATTCTACAGTACATCCACATAGGGTGAAAGTACCCTTACTCTCTTGAAAAACGTTGAGTTAACA
CAGTTGGAGGTAATATGCATATTCTGAAGTCATAGATAATTTACACAGATCTCTCTCAATGCAT
TAGCAAAAATCATACAATATACAGATGGTCCTCGATTTACATTGTGGTTAATTCCCAATAAACC
CATCATAAGTTAAAAATGCATATAACGTTAGCAACACAGCAGTCTCCTAATTAATGACAGCTTG
ACTTAACAATTTTCCAACTTTACCATGGTGTGAAAGAGGTATGATTCCTAAGCCCTAAGGAGCT
CCTCAGCTTGAAATGGGGCTGCATCCCTATAAACCCATCATAAAGTCAAAAAATCCTAAAACAT
AAGTTGGTGACCATCTGTAATCATGATGTGGTGGTAAATCTTGGACGCTACCTTACAATAACTA
GACAAAGGAAAATCATCCTTTGTCCTGTTCTGTGTAAATATTTAATGAATGATCAAAACTTCAG
TTTAAATATTATGAAAAACTTTAAACATAAAGTAGTAGAAATAAGACAGTAAATACTGTATCCT
AATATCCAGTCAGGATACAGAAACCATACCATTAACTTGAACAGGGATAATTTTAATATAAAAA
CTGTTAACTGATAATGGTATTAACTTTTAAGAGGGATGAAAGAGAGCTATGATGTCCTAGGACT
GAGAGTACCCCAGGAAAGAATACCCTTGAAAGGGTCTCCCCTTCCCCATGGTGAAGTCAGGCCT
AATGGAGAGAGTGGCTACAGCCTACTCAGTGATTGGGAAATTCCCTGTCTTGCCCTGGGCCAGA
GCTGGTGTACCGCTGGTGGATCAGGTCTTACAAGCAAAGAACCTCACACTCCCAACTGGTAAGC
CAGAAGCCTCTTGCTAGGGTGTGAGCAAAACTTGGACAGGAACTCTCAGTAGATGTTTGTGTTT
GTCAAGATTCTCCAGACAAACTTCCTTAAAAGGATTGGCTTGTGTTGTTATTATTAAGTCTAAC
AAGTCCAAAAGCTGGAGTGTGAGGCAGGAGGCTGGAAACCCAGGAAAGCTGATGGTGCAAGGTC
CAGTCCAAAGGTATCTGTTGGAGGATTCTCTTGTTCTGGGAAGAGGACGGTCTTTTTTTCTCTT
CAGACCTTCACCTGACTGGATCAAGCCCACTAACATCGAGGAGGACAGTCTGCATTACTCAGAG
TTCACTGATTGATTTAAATGTCAATCTCATATAAAACACCCTCACAGAAACACCTAGAATAATG
TTTGACCTTATAATTGGAAAATCAGAGCAAAAGTTAAATCTCAAAAAAAAAAAAAAAAAAAGTA
TGACCCAGTAGCTAGGCACCTGTGGCCCCGCCAAGTTGACACATAAAATTAACTGTCACAGTAT
CATCTTAGAAGTGAAAGAAGCCCCTTTATCCTGCAGTGCCCCTCTACCACCACCTACTGACAAA
GAACATGGTGCTATCTGGCATGGGAGAAATGTTCAGTTTGCTATGGCTTGTATGTGTCCCCTCA
AATTCAAGTGTTGCCAATGTGACAGCATCAAGAGGTGGGGTCTTTAAGAGATCACTAGGCCATG
AGGGATTCTCTTAGGACTGGGATGAAGGCCCATAATAAAAGAGGTTTCGGGGAGCATCCTGCTA
GCTTGCCTTCTGTATGTGAGAACACAGCAAGAAAGCCCTAGTCAACAAGTGCCAGCTCCTTGAT
CTTAGACTTCCCATCCTCCAGAACTGTGAGAAATACATTTCTGTTCCTTACAAATTACCCAGTC
TCCTGTATTCTGTTATAGCAGCACAAAATGAAGATACCATACCTGAACACCTGAACATTCTTCA
CAAGGTAGTAAATGCACTGCTTTATTCTGGTCTCAGTATTGTGTGCTTAATAAGGAAATGAGAA
AGGGTGGATCAGGGCATAGGATGAACAAGTTACTGCTAGACCTCTCACAATGCCACTAATGGAT
AAGATTGTATTTTCATCATTCTTGTCTCTTCGGAAGCTAACACCATGCTATAATAGGCACTAAA
TAGATGTCTAAAAACACCTTAAGTATTTGTCTAGAAATCTGGTGCATTGTTCAGAAAGAACCAA
AATTCAAAATAATTTCAAAGGGCCTAAAGCACTAGTTAATCAAAATTCATTAGTTTTTAATGGT
ACTACCACTCTCAAATTTAAAATGTCATCTTACGTTCCTCTTCCTCGCATTGGATTTATTGCTA
AAACCTGGTAAACACTTTTAATCCTTTTCAATTCCATTACCACTGCTCTTGTCCAGAATTACTT
CGCAGACTAATAGTCACCTGACTTCTCCCCTGCATCCGATTTGCTGTCTAATTCTGGTTACAAA
TAAGTAACTGCCAAACTAATCTTTCTAAAAAGCAAGACTGATCTCGTCACTCCTTTGCTCAACA
ATGTAAAAGCTCCCATTGTCTCCCAAATAAAACCAGCTTTCCACTGTGTATACAATACATCCA

hide sequence

RefSeq Acc Id:

NM_001301870 ⟹ NP_001288799

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 153,002,709 (-)	NCBI
CHM1_1	6	153,572,425 - 153,587,869 (-)	NCBI
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	NCBI

Sequence:

show sequence

AGGGTCCGCGATCTCGGACTAAGGATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCT
GGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGA
GCTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCAT
TTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTGCTGAACGAGAAGGAGCGGGAGC
TGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGA
AATCACTTTGTGTCAAAAAGAAATAACTCAGCTGAAGCATCAGATTATCTTACTTTTGGTTCCC
TCAGAAGAAACAGATGAAAATGATTTGATCCTGGAAGTAACTGCAGGAGTTGGAGGTGGCCTTA
GACATGCATCTGCCAGCATTGGGGGTTCAGAAGCCTATAGGCACATGAAATTTGAAGGAGGTGT
TCACAGAGTACAAAGAGTGCCAAAGACAGAAAAGCAAGGCCGCGTCCATACTAGCACCATGACT
GTAGCAATATTACCCCAGCCTACTGAGATTAATCTGGTGATTAATCCGAAAGATTTGAGAATTG
ACACTAAGCGAGCCAGTGGAGCTGGGGGGCAGCATGTAAATACCACGGACAGTGCTGTCCGGAT
AGTTCATCTTCCAACAGGTGTTGTTTCTGAATGTCAACAAGAGAGATCTCAGCTGAAAAATAAA
GAGCTGGCTATGACAAAGTTACGTGCAAAACTGTACAGCATGCATCTAGAAGAAGAAATAAATA
AAAGACAGAATGCTAGAAAAATTCAGATTGGAAGTAAAGGAAGATCAGAGAAAATAAGAACATA
TAATTTTCCACAGAACCGGGTCACAGATCACAGAATAAACAAGACGCTGCATGATCTTGAAACT
TTTATGCAAGGAGATTATCTACTGGATGAACTTGTACAGTCATTGAAGGAATACGCCGATTATG
AATCTTTAGTAGAAATTATTTCCCAAAAAGTTTAAGTTGATTTGTTATTTATAGACTTTCGTAG
CTTAGAAAAATTCTACAGTACATCCACATAGGGTGAAAGTACCCTTACTCTCTTGAAAAACGTT
GAGTTAACACAGTTGGAGGTAATATGCATATTCTGAAGTCATAGATAATTTACACAGATCTCTC
TCAATGCATTAGCAAAAATCATACAATATACAGATGGTCCTCGATTTACATTGTGGTTAATTCC
CAATAAACCCATCATAAGTTAAAAATGCATATAACGTTAGCAACACAGCAGTCTCCTAATTAAT
GACAGCTTGACTTAACAATTTTCCAACTTTACCATGGTGTGAAAGAGGTATGATTCCTAAGCCC
TAAGGAGCTCCTCAGCTTGAAATGGGGCTGCATCCCTATAAACCCATCATAAAGTCAAAAAATC
CTAAAACATAAGTTGGTGACCATCTGTAATCATGATGTGGTGGTAAATCTTGGACGCTACCTTA
CAATAACTAGACAAAGGAAAATCATCCTTTGTCCTGTTCTGTGTAAATATTTAATGAATGATCA
AAACTTCAGTTTAAATATTATGAAAAACTTTAAACATAAAGTAGTAGAAATAAGACAGTAAATA
CTGTATCCTAATATCCAGTCAGGATACAGAAACCATACCATTAACTTGAACAGGGATAATTTTA
ATATAAAAACTGTTAACTGATAATGGTATTAACTTTTAAGAGGGATGAAAGAGAGCTATGATGT
CCTAGGACTGAGAGTACCCCAGGAAAGAATACCCTTGAAAGGGTCTCCCCTTCCCCATGGTGAA
GTCAGGCCTAATGGAGAGAGTGGCTACAGCCTACTCAGTGATTGGGAAATTCCCTGTCTTGCCC
TGGGCCAGAGCTGGTGTACCGCTGGTGGATCAGGTCTTACAAGCAAAGAACCTCACACTCCCAA
CTGGTAAGCCAGAAGCCTCTTGCTAGGGTGTGAGCAAAACTTGGACAGGAACTCTCAGTAGATG
TTTGTGTTTGTCAAGATTCTCCAGACAAACTTCCTTAAAAGGATTGGCTTGTGTTGTTATTATT
AAGTCTAACAAGTCCAAAAGCTGGAGTGTGAGGCAGGAGGCTGGAAACCCAGGAAAGCTGATGG
TGCAAGGTCCAGTCCAAAGGTATCTGTTGGAGGATTCTCTTGTTCTGGGAAGAGGACGGTCTTT
TTTTCTCTTCAGACCTTCACCTGACTGGATCAAGCCCACTAACATCGAGGAGGACAGTCTGCAT
TACTCAGAGTTCACTGATTGATTTAAATGTCAATCTCATATAAAACACCCTCACAGAAACACCT
AGAATAATGTTTGACCTTATAATTGGAAAATCAGAGCAAAAGTTAAATCTCAAAAAAAAAAAAA
AAAAAAGTATGACCCAGTAGCTAGGCACCTGTGGCCCCGCCAAGTTGACACATAAAATTAACTG
TCACAGTATCATCTTAGAAGTGAAAGAAGCCCCTTTATCCTGCAGTGCCCCTCTACCACCACCT
ACTGACAAAGAACATGGTGCTATCTGGCATGGGAGAAATGTTCAGTTTGCTATGGCTTGTATGT
GTCCCCTCAAATTCAAGTGTTGCCAATGTGACAGCATCAAGAGGTGGGGTCTTTAAGAGATCAC
TAGGCCATGAGGGATTCTCTTAGGACTGGGATGAAGGCCCATAATAAAAGAGGTTTCGGGGAGC
ATCCTGCTAGCTTGCCTTCTGTATGTGAGAACACAGCAAGAAAGCCCTAGTCAACAAGTGCCAG
CTCCTTGATCTTAGACTTCCCATCCTCCAGAACTGTGAGAAATACATTTCTGTTCCTTACAAAT
TACCCAGTCTCCTGTATTCTGTTATAGCAGCACAAAATGAAGATACCATACCTGAACACCTGAA
CATTCTTCACAAGGTAGTAAATGCACTGCTTTATTCTGGTCTCAGTATTGTGTGCTTAATAAGG
AAATGAGAAAGGGTGGATCAGGGCATAGGATGAACAAGTTACTGCTAGACCTCTCACAATGCCA
CTAATGGATAAGATTGTATTTTCATCATTCTTGTCTCTTCGGAAGCTAACACCATGCTATAATA
GGCACTAAATAGATGTCTAAAAACACCTTAAGTATTTGTCTAGAAATCTGGTGCATTGTTCAGA
AAGAACCAAAATTCAAAATAATTTCAAAGGGCCTAAAGCACTAGTTAATCAAAATTCATTAGTT
TTTAATGGTACTACCACTCTCAAATTTAAAATGTCATCTTACGTTCCTCTTCCTCGCATTGGAT
TTATTGCTAAAACCTGGTAAACACTTTTAATCCTTTTCAATTCCATTACCACTGCTCTTGTCCA
GAATTACTTCGCAGACTAATAGTCACCTGACTTCTCCCCTGCATCCGATTTGCTGTCTAATTCT
GGTTACAAATAAGTAACTGCCAAACTAATCTTTCTAAAAAGCAAGACTGATCTCGTCACTCCTT
TGCTCAACAATGTAAAAGCTCCCATTGTCTCCCAAATAAAACCAGCTTTCCACTGTGTATACAA
TACATCCA

hide sequence

RefSeq Acc Id:

NM_001301871 ⟹ NP_001288800

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 153,002,709 (-)	NCBI
CHM1_1	6	153,572,425 - 153,587,869 (-)	NCBI
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	NCBI

Sequence:

show sequence

AGGGTCCGCGATCTCGGACTAAGGATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCT
GGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGA
GCTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCAT
TTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTGCTGAACGAGAAGGAGCGGGAGC
TGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGA
AATCACTTTGTGTCAAAAAGAAATAACTCAGCTGAAGCATCAGAAGAAACAGATGAAAATGATT
TGATCCTGGAAGTAACTGCAGGAGTTGGAGGTCAGGAGGCAATGTTGTTTACATCAGAGATATT
TGATATGTATCAGCAATATGCTGCATTTAAAAGATGGCATTTTGAAACCCTGGAATATTTTCCA
AGTGAACTAGGTGGCCTTAGACATGCATCTGCCAGCATTGGGGGTTCAGAAGCCTATAGGCACA
TGAAATTTGAAGGAGGTGTTCACAGAGTACAAAGAGTGCCAAAGACAGAAAAGCAAGGCCGCGT
CCATACTAGCACCATGACTGTAGCAATATTACCCCAGCCTACTGAGATTAATCTGGTGATTAAT
CCGAAAGATTTGAGAATTGACACTAAGCGAGCCAGTGGAGCTGGGGGGCAGCATGTAAATACCA
CGGACAGTGCTGTCCGGATAGTTCATCTTCCAACAGGTGTTGTTTCTGAATGTCAACAAGAGAG
ATCTCAGCTGAAAAATAAAGAGCTGGCTATGACAAAGTTACGTGCAAAACTGTACAGCATGCAT
CTAGAAGAAGAAATAAATAAAAGACAGAATGCTAGAAAAATTCAGATTGGAAGTAAAGGAAGAT
CAGAGAAAATAAGAACATATAATTTTCCACAGAACCGGGTCACAGATCACAGAATAAACAAGAC
GCTGCATGATCTTGAAACTTTTATGCAAGGAGATTATCTACTGGATGAACTTGTACAGTCATTG
AAGGAATACGCCGATTATGAATCTTTAGTAGAAATTATTTCCCAAAAAGTTTAAGTTGATTTGT
TATTTATAGACTTTCGTAGCTTAGAAAAATTCTACAGTACATCCACATAGGGTGAAAGTACCCT
TACTCTCTTGAAAAACGTTGAGTTAACACAGTTGGAGGTAATATGCATATTCTGAAGTCATAGA
TAATTTACACAGATCTCTCTCAATGCATTAGCAAAAATCATACAATATACAGATGGTCCTCGAT
TTACATTGTGGTTAATTCCCAATAAACCCATCATAAGTTAAAAATGCATATAACGTTAGCAACA
CAGCAGTCTCCTAATTAATGACAGCTTGACTTAACAATTTTCCAACTTTACCATGGTGTGAAAG
AGGTATGATTCCTAAGCCCTAAGGAGCTCCTCAGCTTGAAATGGGGCTGCATCCCTATAAACCC
ATCATAAAGTCAAAAAATCCTAAAACATAAGTTGGTGACCATCTGTAATCATGATGTGGTGGTA
AATCTTGGACGCTACCTTACAATAACTAGACAAAGGAAAATCATCCTTTGTCCTGTTCTGTGTA
AATATTTAATGAATGATCAAAACTTCAGTTTAAATATTATGAAAAACTTTAAACATAAAGTAGT
AGAAATAAGACAGTAAATACTGTATCCTAATATCCAGTCAGGATACAGAAACCATACCATTAAC
TTGAACAGGGATAATTTTAATATAAAAACTGTTAACTGATAATGGTATTAACTTTTAAGAGGGA
TGAAAGAGAGCTATGATGTCCTAGGACTGAGAGTACCCCAGGAAAGAATACCCTTGAAAGGGTC
TCCCCTTCCCCATGGTGAAGTCAGGCCTAATGGAGAGAGTGGCTACAGCCTACTCAGTGATTGG
GAAATTCCCTGTCTTGCCCTGGGCCAGAGCTGGTGTACCGCTGGTGGATCAGGTCTTACAAGCA
AAGAACCTCACACTCCCAACTGGTAAGCCAGAAGCCTCTTGCTAGGGTGTGAGCAAAACTTGGA
CAGGAACTCTCAGTAGATGTTTGTGTTTGTCAAGATTCTCCAGACAAACTTCCTTAAAAGGATT
GGCTTGTGTTGTTATTATTAAGTCTAACAAGTCCAAAAGCTGGAGTGTGAGGCAGGAGGCTGGA
AACCCAGGAAAGCTGATGGTGCAAGGTCCAGTCCAAAGGTATCTGTTGGAGGATTCTCTTGTTC
TGGGAAGAGGACGGTCTTTTTTTCTCTTCAGACCTTCACCTGACTGGATCAAGCCCACTAACAT
CGAGGAGGACAGTCTGCATTACTCAGAGTTCACTGATTGATTTAAATGTCAATCTCATATAAAA
CACCCTCACAGAAACACCTAGAATAATGTTTGACCTTATAATTGGAAAATCAGAGCAAAAGTTA
AATCTCAAAAAAAAAAAAAAAAAAAGTATGACCCAGTAGCTAGGCACCTGTGGCCCCGCCAAGT
TGACACATAAAATTAACTGTCACAGTATCATCTTAGAAGTGAAAGAAGCCCCTTTATCCTGCAG
TGCCCCTCTACCACCACCTACTGACAAAGAACATGGTGCTATCTGGCATGGGAGAAATGTTCAG
TTTGCTATGGCTTGTATGTGTCCCCTCAAATTCAAGTGTTGCCAATGTGACAGCATCAAGAGGT
GGGGTCTTTAAGAGATCACTAGGCCATGAGGGATTCTCTTAGGACTGGGATGAAGGCCCATAAT
AAAAGAGGTTTCGGGGAGCATCCTGCTAGCTTGCCTTCTGTATGTGAGAACACAGCAAGAAAGC
CCTAGTCAACAAGTGCCAGCTCCTTGATCTTAGACTTCCCATCCTCCAGAACTGTGAGAAATAC
ATTTCTGTTCCTTACAAATTACCCAGTCTCCTGTATTCTGTTATAGCAGCACAAAATGAAGATA
CCATACCTGAACACCTGAACATTCTTCACAAGGTAGTAAATGCACTGCTTTATTCTGGTCTCAG
TATTGTGTGCTTAATAAGGAAATGAGAAAGGGTGGATCAGGGCATAGGATGAACAAGTTACTGC
TAGACCTCTCACAATGCCACTAATGGATAAGATTGTATTTTCATCATTCTTGTCTCTTCGGAAG
CTAACACCATGCTATAATAGGCACTAAATAGATGTCTAAAAACACCTTAAGTATTTGTCTAGAA
ATCTGGTGCATTGTTCAGAAAGAACCAAAATTCAAAATAATTTCAAAGGGCCTAAAGCACTAGT
TAATCAAAATTCATTAGTTTTTAATGGTACTACCACTCTCAAATTTAAAATGTCATCTTACGTT
CCTCTTCCTCGCATTGGATTTATTGCTAAAACCTGGTAAACACTTTTAATCCTTTTCAATTCCA
TTACCACTGCTCTTGTCCAGAATTACTTCGCAGACTAATAGTCACCTGACTTCTCCCCTGCATC
CGATTTGCTGTCTAATTCTGGTTACAAATAAGTAACTGCCAAACTAATCTTTCTAAAAAGCAAG
ACTGATCTCGTCACTCCTTTGCTCAACAATGTAAAAGCTCCCATTGTCTCCCAAATAAAACCAG
CTTTCCACTGTGTATACAATACATCCA

hide sequence

RefSeq Acc Id:

NM_001301872 ⟹ NP_001288801

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,998,293 - 153,002,709 (-)	NCBI
CHM1_1	6	153,583,353 - 153,587,869 (-)	NCBI
T2T-CHM13v2.0	6	154,199,597 - 154,204,007 (-)	NCBI

Sequence:

show sequence

AGGGTCCGCGATCTCGGACTAAGGATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCT
GGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGA
GCTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCAT
TTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTGCTGAACGAGAAGGAGCGGGAGC
TGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGA
AATCACTTTGTGTCAAAAAGAAATAACTCAGCTGAAGCATCAGGTATGGTATTTCTGCAAAGAA
TAAAGCATTTGTGCTATTCTTAGGCATTAAAGTTTATTAAAGGTTTATAAAAACAAGTGACTAG
CTTGTTACTGTTTAGAATAAACTGGGTTTTTTAAATTTATTTTCTAGATTTATTGAGGTATAAA
TTGACCCCCAAAATTGCATATATTTAAGGTATATGATGTGATGTTTTGATATATGCATACATTT
TGAAATGATTATGACTATCAATAAACTGGTTTTTAAAGAACAAA

hide sequence

RefSeq Acc Id:

NM_019041 ⟹ NP_061914

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 153,002,709 (-)	NCBI
GRCh37	6	153,308,400 - 153,323,925 (-)	RGD
Build 36	6	153,351,363 - 153,365,540 (-)	NCBI Archive
Celera	6	154,042,070 - 154,057,593 (-)	RGD
HuRef	6	150,871,194 - 150,886,723 (-)	ENTREZGENE
CHM1_1	6	153,572,425 - 153,587,869 (-)	NCBI
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	NCBI

Sequence:

show sequence

AGGGTCCGCGATCTCGGACTAAGGATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCT
GGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGA
GCTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCAT
TTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTGCTGAACGAGAAGGAGCGGGAGC
TGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGA
AATCACTTTGTGTCAAAAAGAAATAACTCAGCTGAAGCATCAGATTATCTTACTTTTGGTTCCC
TCAGAAGAAACAGATGAAAATGATTTGATCCTGGAAGTAACTGCAGGAGTTGGAGGTCAGGAGG
CAATGTTGTTTACATCAGAGATATTTGATATGTATCAGCAATATGCTGCATTTAAAAGATGGCA
TTTTGAAACCCTGGAATATTTTCCAAGTGAACTAGGTGGCCTTAGACATGCATCTGCCAGCATT
GGGGGTTCAGAAGCCTATAGGCACATGAAATTTGAAGGAGGTGTTCACAGAGTACAAAGAGTGC
CAAAGACAGAAAAGCAAGGCCGCGTCCATACTAGCACCATGACTGTAGCAATATTACCCCAGCC
TACTGAGATTAATCTGGTGATTAATCCGAAAGATTTGAGAATTGACACTAAGCGAGCCAGTGGA
GCTGGGGGGCAGCATGTAAATACCACGGACAGTGCTGTCCGGATAGTTCATCTTCCAACAGGTG
TTGTTTCTGAATGTCAACAAGAGAGATCTCAGCTGAAAAATAAAGAGCTGGCTATGACAAAGTT
ACGTGCAAAACTGTACAGCATGCATCTAGAAGAAGAAATAAATAAAAGACAGAATGCTAGAAAA
ATTCAGATTGGAAGTAAAGGAAGATCAGAGAAAATAAGAACATATAATTTTCCACAGAACCGGG
TCACAGATCACAGAATAAACAAGACGCTGCATGATCTTGAAACTTTTATGCAAGGAGATTATCT
ACTGGATGAACTTGTACAGTCATTGAAGGAATACGCCGATTATGAATCTTTAGTAGAAATTATT
TCCCAAAAAGTTTAAGTTGATTTGTTATTTATAGACTTTCGTAGCTTAGAAAAATTCTACAGTA
CATCCACATAGGGTGAAAGTACCCTTACTCTCTTGAAAAACGTTGAGTTAACACAGTTGGAGGT
AATATGCATATTCTGAAGTCATAGATAATTTACACAGATCTCTCTCAATGCATTAGCAAAAATC
ATACAATATACAGATGGTCCTCGATTTACATTGTGGTTAATTCCCAATAAACCCATCATAAGTT
AAAAATGCATATAACGTTAGCAACACAGCAGTCTCCTAATTAATGACAGCTTGACTTAACAATT
TTCCAACTTTACCATGGTGTGAAAGAGGTATGATTCCTAAGCCCTAAGGAGCTCCTCAGCTTGA
AATGGGGCTGCATCCCTATAAACCCATCATAAAGTCAAAAAATCCTAAAACATAAGTTGGTGAC
CATCTGTAATCATGATGTGGTGGTAAATCTTGGACGCTACCTTACAATAACTAGACAAAGGAAA
ATCATCCTTTGTCCTGTTCTGTGTAAATATTTAATGAATGATCAAAACTTCAGTTTAAATATTA
TGAAAAACTTTAAACATAAAGTAGTAGAAATAAGACAGTAAATACTGTATCCTAATATCCAGTC
AGGATACAGAAACCATACCATTAACTTGAACAGGGATAATTTTAATATAAAAACTGTTAACTGA
TAATGGTATTAACTTTTAAGAGGGATGAAAGAGAGCTATGATGTCCTAGGACTGAGAGTACCCC
AGGAAAGAATACCCTTGAAAGGGTCTCCCCTTCCCCATGGTGAAGTCAGGCCTAATGGAGAGAG
TGGCTACAGCCTACTCAGTGATTGGGAAATTCCCTGTCTTGCCCTGGGCCAGAGCTGGTGTACC
GCTGGTGGATCAGGTCTTACAAGCAAAGAACCTCACACTCCCAACTGGTAAGCCAGAAGCCTCT
TGCTAGGGTGTGAGCAAAACTTGGACAGGAACTCTCAGTAGATGTTTGTGTTTGTCAAGATTCT
CCAGACAAACTTCCTTAAAAGGATTGGCTTGTGTTGTTATTATTAAGTCTAACAAGTCCAAAAG
CTGGAGTGTGAGGCAGGAGGCTGGAAACCCAGGAAAGCTGATGGTGCAAGGTCCAGTCCAAAGG
TATCTGTTGGAGGATTCTCTTGTTCTGGGAAGAGGACGGTCTTTTTTTCTCTTCAGACCTTCAC
CTGACTGGATCAAGCCCACTAACATCGAGGAGGACAGTCTGCATTACTCAGAGTTCACTGATTG
ATTTAAATGTCAATCTCATATAAAACACCCTCACAGAAACACCTAGAATAATGTTTGACCTTAT
AATTGGAAAATCAGAGCAAAAGTTAAATCTCAAAAAAAAAAAAAAAAAAAGTATGACCCAGTAG
CTAGGCACCTGTGGCCCCGCCAAGTTGACACATAAAATTAACTGTCACAGTATCATCTTAGAAG
TGAAAGAAGCCCCTTTATCCTGCAGTGCCCCTCTACCACCACCTACTGACAAAGAACATGGTGC
TATCTGGCATGGGAGAAATGTTCAGTTTGCTATGGCTTGTATGTGTCCCCTCAAATTCAAGTGT
TGCCAATGTGACAGCATCAAGAGGTGGGGTCTTTAAGAGATCACTAGGCCATGAGGGATTCTCT
TAGGACTGGGATGAAGGCCCATAATAAAAGAGGTTTCGGGGAGCATCCTGCTAGCTTGCCTTCT
GTATGTGAGAACACAGCAAGAAAGCCCTAGTCAACAAGTGCCAGCTCCTTGATCTTAGACTTCC
CATCCTCCAGAACTGTGAGAAATACATTTCTGTTCCTTACAAATTACCCAGTCTCCTGTATTCT
GTTATAGCAGCACAAAATGAAGATACCATACCTGAACACCTGAACATTCTTCACAAGGTAGTAA
ATGCACTGCTTTATTCTGGTCTCAGTATTGTGTGCTTAATAAGGAAATGAGAAAGGGTGGATCA
GGGCATAGGATGAACAAGTTACTGCTAGACCTCTCACAATGCCACTAATGGATAAGATTGTATT
TTCATCATTCTTGTCTCTTCGGAAGCTAACACCATGCTATAATAGGCACTAAATAGATGTCTAA
AAACACCTTAAGTATTTGTCTAGAAATCTGGTGCATTGTTCAGAAAGAACCAAAATTCAAAATA
ATTTCAAAGGGCCTAAAGCACTAGTTAATCAAAATTCATTAGTTTTTAATGGTACTACCACTCT
CAAATTTAAAATGTCATCTTACGTTCCTCTTCCTCGCATTGGATTTATTGCTAAAACCTGGTAA
ACACTTTTAATCCTTTTCAATTCCATTACCACTGCTCTTGTCCAGAATTACTTCGCAGACTAAT
AGTCACCTGACTTCTCCCCTGCATCCGATTTGCTGTCTAATTCTGGTTACAAATAAGTAACTGC
CAAACTAATCTTTCTAAAAAGCAAGACTGATCTCGTCACTCCTTTGCTCAACAATGTAAAAGCT
CCCATTGTCTCCCAAATAAAACCAGCTTTCCACTGTGTATACAATACATCCA

hide sequence

RefSeq Acc Id:

NR_126056

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 153,002,709 (-)	NCBI
CHM1_1	6	153,572,425 - 153,587,869 (-)	NCBI
T2T-CHM13v2.0	6	154,188,665 - 154,204,007 (-)	NCBI

Sequence:

show sequence

AGGGTCCGCGATCTCGGACTAAGGATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCT
GGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGA
GCTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCAT
TTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTGCTGAACGAGAAGGAGCGGGAGC
TGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGA
AATCACTTTGTGTCAAAAAGAAATAACTCAGCTGAAGCATCAGAAGAAACAGATGAAAATGATT
TGATCCTGGAAGTAACTGCAGGAGTTGGAGGTCAGGAGGCAATGTTGTTTACATCAGAGATATT
TGATATGTATCAGCAATATGCTGCATTTAAAAGATGGCATTTTGAAACCCTGGAATATTTTCCA
AGTGAACTAGGTGGCCTTAGACATGCATCTGCCAGCATTGGGGGTTCAGAAGCCTATAGGCACA
TGAAATTTGAAGGAGGTGTTCACAGAGTACAAAGAGTGCCAAAGACAGAAAAGCAAGGCCGCGT
CCATACTAGCACCATGACTGTAGCAATATTACCCCAGCCTACTGAGATTAATCTGGTGATTAAT
CCGAAAGATTTGAGAATTGACACTAAGCGAGCCAGTGGAGCTGGGGGGCAGCATGTAAATACCA
CGGACAGTGCTGTCCGGATAGTTCATCTTCCAACAGATTGGAAGTAAAGGAAGATCAGAGAAAA
TAAGAACATATAATTTTCCACAGAACCGGGTCACAGATCACAGAATAAACAAGACGCTGCATGA
TCTTGAAACTTTTATGCAAGGAGATTATCTACTGGATGAACTTGTACAGTCATTGAAGGAATAC
GCCGATTATGAATCTTTAGTAGAAATTATTTCCCAAAAAGTTTAAGTTGATTTGTTATTTATAG
ACTTTCGTAGCTTAGAAAAATTCTACAGTACATCCACATAGGGTGAAAGTACCCTTACTCTCTT
GAAAAACGTTGAGTTAACACAGTTGGAGGTAATATGCATATTCTGAAGTCATAGATAATTTACA
CAGATCTCTCTCAATGCATTAGCAAAAATCATACAATATACAGATGGTCCTCGATTTACATTGT
GGTTAATTCCCAATAAACCCATCATAAGTTAAAAATGCATATAACGTTAGCAACACAGCAGTCT
CCTAATTAATGACAGCTTGACTTAACAATTTTCCAACTTTACCATGGTGTGAAAGAGGTATGAT
TCCTAAGCCCTAAGGAGCTCCTCAGCTTGAAATGGGGCTGCATCCCTATAAACCCATCATAAAG
TCAAAAAATCCTAAAACATAAGTTGGTGACCATCTGTAATCATGATGTGGTGGTAAATCTTGGA
CGCTACCTTACAATAACTAGACAAAGGAAAATCATCCTTTGTCCTGTTCTGTGTAAATATTTAA
TGAATGATCAAAACTTCAGTTTAAATATTATGAAAAACTTTAAACATAAAGTAGTAGAAATAAG
ACAGTAAATACTGTATCCTAATATCCAGTCAGGATACAGAAACCATACCATTAACTTGAACAGG
GATAATTTTAATATAAAAACTGTTAACTGATAATGGTATTAACTTTTAAGAGGGATGAAAGAGA
GCTATGATGTCCTAGGACTGAGAGTACCCCAGGAAAGAATACCCTTGAAAGGGTCTCCCCTTCC
CCATGGTGAAGTCAGGCCTAATGGAGAGAGTGGCTACAGCCTACTCAGTGATTGGGAAATTCCC
TGTCTTGCCCTGGGCCAGAGCTGGTGTACCGCTGGTGGATCAGGTCTTACAAGCAAAGAACCTC
ACACTCCCAACTGGTAAGCCAGAAGCCTCTTGCTAGGGTGTGAGCAAAACTTGGACAGGAACTC
TCAGTAGATGTTTGTGTTTGTCAAGATTCTCCAGACAAACTTCCTTAAAAGGATTGGCTTGTGT
TGTTATTATTAAGTCTAACAAGTCCAAAAGCTGGAGTGTGAGGCAGGAGGCTGGAAACCCAGGA
AAGCTGATGGTGCAAGGTCCAGTCCAAAGGTATCTGTTGGAGGATTCTCTTGTTCTGGGAAGAG
GACGGTCTTTTTTTCTCTTCAGACCTTCACCTGACTGGATCAAGCCCACTAACATCGAGGAGGA
CAGTCTGCATTACTCAGAGTTCACTGATTGATTTAAATGTCAATCTCATATAAAACACCCTCAC
AGAAACACCTAGAATAATGTTTGACCTTATAATTGGAAAATCAGAGCAAAAGTTAAATCTCAAA
AAAAAAAAAAAAAAAAGTATGACCCAGTAGCTAGGCACCTGTGGCCCCGCCAAGTTGACACATA
AAATTAACTGTCACAGTATCATCTTAGAAGTGAAAGAAGCCCCTTTATCCTGCAGTGCCCCTCT
ACCACCACCTACTGACAAAGAACATGGTGCTATCTGGCATGGGAGAAATGTTCAGTTTGCTATG
GCTTGTATGTGTCCCCTCAAATTCAAGTGTTGCCAATGTGACAGCATCAAGAGGTGGGGTCTTT
AAGAGATCACTAGGCCATGAGGGATTCTCTTAGGACTGGGATGAAGGCCCATAATAAAAGAGGT
TTCGGGGAGCATCCTGCTAGCTTGCCTTCTGTATGTGAGAACACAGCAAGAAAGCCCTAGTCAA
CAAGTGCCAGCTCCTTGATCTTAGACTTCCCATCCTCCAGAACTGTGAGAAATACATTTCTGTT
CCTTACAAATTACCCAGTCTCCTGTATTCTGTTATAGCAGCACAAAATGAAGATACCATACCTG
AACACCTGAACATTCTTCACAAGGTAGTAAATGCACTGCTTTATTCTGGTCTCAGTATTGTGTG
CTTAATAAGGAAATGAGAAAGGGTGGATCAGGGCATAGGATGAACAAGTTACTGCTAGACCTCT
CACAATGCCACTAATGGATAAGATTGTATTTTCATCATTCTTGTCTCTTCGGAAGCTAACACCA
TGCTATAATAGGCACTAAATAGATGTCTAAAAACACCTTAAGTATTTGTCTAGAAATCTGGTGC
ATTGTTCAGAAAGAACCAAAATTCAAAATAATTTCAAAGGGCCTAAAGCACTAGTTAATCAAAA
TTCATTAGTTTTTAATGGTACTACCACTCTCAAATTTAAAATGTCATCTTACGTTCCTCTTCCT
CGCATTGGATTTATTGCTAAAACCTGGTAAACACTTTTAATCCTTTTCAATTCCATTACCACTG
CTCTTGTCCAGAATTACTTCGCAGACTAATAGTCACCTGACTTCTCCCCTGCATCCGATTTGCT
GTCTAATTCTGGTTACAAATAAGTAACTGCCAAACTAATCTTTCTAAAAAGCAAGACTGATCTC
GTCACTCCTTTGCTCAACAATGTAAAAGCTCCCATTGTCTCCCAAATAAAACCAGCTTTCCACT
GTGTATACAATACATCCA

hide sequence

RefSeq Acc Id:

XM_047418905 ⟹ XP_047274861

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,991,190 - 153,002,709 (-)	NCBI

RefSeq Acc Id:

XM_047418906 ⟹ XP_047274862

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 152,998,153 (-)	NCBI

RefSeq Acc Id:

XM_047418907 ⟹ XP_047274863

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	152,987,362 - 152,998,635 (-)	NCBI

RefSeq Acc Id:

XM_054355682 ⟹ XP_054211657

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	154,192,489 - 154,204,007 (-)	NCBI

RefSeq Acc Id:

XM_054355683 ⟹ XP_054211658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	154,188,665 - 154,199,457 (-)	NCBI

RefSeq Acc Id:

XM_054355684 ⟹ XP_054211659

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	154,188,665 - 154,199,939 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001107656	(Get FASTA)	NCBI Sequence Viewer
	NP_001287976	(Get FASTA)	NCBI Sequence Viewer
	NP_001288799	(Get FASTA)	NCBI Sequence Viewer
	NP_001288800	(Get FASTA)	NCBI Sequence Viewer
	NP_001288801	(Get FASTA)	NCBI Sequence Viewer
	NP_061914	(Get FASTA)	NCBI Sequence Viewer
	XP_047274861	(Get FASTA)	NCBI Sequence Viewer
	XP_047274862	(Get FASTA)	NCBI Sequence Viewer
	XP_047274863	(Get FASTA)	NCBI Sequence Viewer
	XP_054211657	(Get FASTA)	NCBI Sequence Viewer
	XP_054211658	(Get FASTA)	NCBI Sequence Viewer
	XP_054211659	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH11873	(Get FASTA)	NCBI Sequence Viewer
	AAH14428	(Get FASTA)	NCBI Sequence Viewer
	AAI05974	(Get FASTA)	NCBI Sequence Viewer
	BAB55295	(Get FASTA)	NCBI Sequence Viewer
	BAF83351	(Get FASTA)	NCBI Sequence Viewer
	BAG53012	(Get FASTA)	NCBI Sequence Viewer
	BAG60033	(Get FASTA)	NCBI Sequence Viewer
	CAE89607	(Get FASTA)	NCBI Sequence Viewer
	EAW47712	(Get FASTA)	NCBI Sequence Viewer
	EAW47713	(Get FASTA)	NCBI Sequence Viewer
	EAW47714	(Get FASTA)	NCBI Sequence Viewer
	EAW47715	(Get FASTA)	NCBI Sequence Viewer
	EAW47716	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000356199
	ENSP00000356199.1
	ENSP00000356200
	ENSP00000356200.5
	ENSP00000356202
	ENSP00000356202.5
	ENSP00000414383.1
	ENSP00000415113.1
GenBank Protein	Q9UGC7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_061914 ⟸ NM_019041
- Peptide Label:	isoform 1
- UniProtKB:	Q96EX4 (UniProtKB/Swiss-Prot), Q96CC5 (UniProtKB/Swiss-Prot), Q5TF50 (UniProtKB/Swiss-Prot), Q5TF44 (UniProtKB/Swiss-Prot), Q3KR06 (UniProtKB/Swiss-Prot), B3KTA0 (UniProtKB/Swiss-Prot), Q96K40 (UniProtKB/Swiss-Prot), Q9UGC7 (UniProtKB/Swiss-Prot), B4DMX1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPEL LAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITLCQKEITQLKHQIILLLVPSEETDEND LILEVTAGVGGQEAMLFTSEIFDMYQQYAAFKRWHFETLEYFPSELGGLRHASASIGGSEAYRH MKFEGGVHRVQRVPKTEKQGRVHTSTMTVAILPQPTEINLVINPKDLRIDTKRASGAGGQHVNT TDSAVRIVHLPTGVVSECQQERSQLKNKELAMTKLRAKLYSMHLEEEINKRQNARKIQIGSKGR SEKIRTYNFPQNRVTDHRINKTLHDLETFMQGDYLLDELVQSLKEYADYESLVEIISQKV hide sequence

RefSeq Acc Id:	NP_001107656 ⟸ NM_001114184
- Peptide Label:	isoform 3
- UniProtKB:	Q9UGC7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPEL LAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITLCQKEITQLKHQIILLLVPSEETDEND LILEVTAGVGGQEAMLFTSEIFDMYQQYAAFKRWHFETLEYFPSELGGLRHASASIGGSEAYRH MKFEGGVHRVQRVPKTEKQGRVHTSTMTVAILPQPTEINLVINPKDLRIDTKRASGAGGQHVNT TDSAVRIVHLPTDWK hide sequence

RefSeq Acc Id:	NP_001288800 ⟸ NM_001301871
- Peptide Label:	isoform 4
- UniProtKB:	X6RKB4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLFTSEIFDMYQQYAAFKRWHFETLEYFPSELGGLRHASASIGGSEAYRHMKFEGGVHRVQRVP KTEKQGRVHTSTMTVAILPQPTEINLVINPKDLRIDTKRASGAGGQHVNTTDSAVRIVHLPTGV VSECQQERSQLKNKELAMTKLRAKLYSMHLEEEINKRQNARKIQIGSKGRSEKIRTYNFPQNRV TDHRINKTLHDLETFMQGDYLLDELVQSLKEYADYESLVEIISQKV hide sequence

RefSeq Acc Id:	NP_001287976 ⟸ NM_001301047
- Peptide Label:	isoform 5
- UniProtKB:	Q9UGC7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPEL LAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITLCQKEITQLKHQIILLLVPSEETDEND LILEVTAGVGGGLRHASASIGGSEAYRHMKFEGGVHRVQRVPKTEKQGRVHTSTMTVAILPQPT EINLVINPKDLRIDTKRASGAGGQHVNTTDSAVRIVHLPTDWK hide sequence

RefSeq Acc Id:	NP_001288799 ⟸ NM_001301870
- Peptide Label:	isoform 2
- UniProtKB:	B4DMX1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPEL LAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITLCQKEITQLKHQIILLLVPSEETDEND LILEVTAGVGGGLRHASASIGGSEAYRHMKFEGGVHRVQRVPKTEKQGRVHTSTMTVAILPQPT EINLVINPKDLRIDTKRASGAGGQHVNTTDSAVRIVHLPTGVVSECQQERSQLKNKELAMTKLR AKLYSMHLEEEINKRQNARKIQIGSKGRSEKIRTYNFPQNRVTDHRINKTLHDLETFMQGDYLL DELVQSLKEYADYESLVEIISQKV hide sequence

RefSeq Acc Id:	NP_001288801 ⟸ NM_001301872
- Peptide Label:	isoform 6
- Sequence:	show sequence MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPEL LAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITLCQKEITQLKHQVWYFCKE hide sequence

RefSeq Acc Id:

ENSP00000414383 ⟸ ENST00000414771

RefSeq Acc Id:

ENSP00000356202 ⟸ ENST00000367233

RefSeq Acc Id:

ENSP00000356199 ⟸ ENST00000367230

RefSeq Acc Id:

ENSP00000356200 ⟸ ENST00000367231

RefSeq Acc Id:

ENSP00000415113 ⟸ ENST00000448966

RefSeq Acc Id:	XP_047274863 ⟸ XM_047418907
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047274862 ⟸ XM_047418906
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047274861 ⟸ XM_047418905
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054211659 ⟸ XM_054355684
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054211658 ⟸ XM_054355683
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054211657 ⟸ XM_054355682
- Peptide Label:	isoform X1

Protein Domains

Prokaryotic-type class I peptide chain release

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UGC7-F1-model_v2	AlphaFold	Q9UGC7	1-380	view protein structure

Promoters

RGD ID:

7209495

Promoter ID:

EPDNEW_H10493

Type:

initiation region

Name:

MTRF1L_1

Description:

mitochondrial translational release factor 1 like

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	153,002,689 - 153,002,749	EPDNEW

RGD ID:

6804477

Promoter ID:

HG_KWN:55513

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_001114184, NM_019041, OTTHUMT00000042763, OTTHUMT00000042769, OTTHUMT00000042771, UC003QPJ.2, UC003QPK.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	153,365,404 - 153,365,904 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21051	AgrOrtholog
COSMIC	MTRF1L	COSMIC
Ensembl Genes	ENSG00000112031	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000367230	ENTREZGENE
	ENST00000367230.5	UniProtKB/Swiss-Prot
	ENST00000367231	ENTREZGENE
	ENST00000367231.9	UniProtKB/Swiss-Prot
	ENST00000367233	ENTREZGENE
	ENST00000367233.10	UniProtKB/Swiss-Prot
	ENST00000414771.5	UniProtKB/TrEMBL
	ENST00000448966.1	UniProtKB/TrEMBL
	ENST00000464135	ENTREZGENE
	ENST00000485512	ENTREZGENE
Gene3D-CATH	3.30.160.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.70.1660	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.140.1950	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000112031	GTEx
HGNC ID	HGNC:21051	ENTREZGENE
Human Proteome Map	MTRF1L	Human Proteome Map
InterPro	PCRF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pep_chain_release_fac_I	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
	Pep_chain_release_fac_I_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:54516	UniProtKB/Swiss-Prot
NCBI Gene	54516	ENTREZGENE
OMIM	613542	OMIM
PANTHER	LD18447P	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PEPTIDE CHAIN RELEASE FACTOR 1-LIKE, MITOCHONDRIAL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PCRF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RF-1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134870441	PharmGKB
PROSITE	RF_PROK_I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	PCRF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF75620	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B3KTA0	ENTREZGENE
	B4DMX1	ENTREZGENE, UniProtKB/TrEMBL
	Q3KR06	ENTREZGENE
	Q5TF44	ENTREZGENE
	Q5TF45_HUMAN	UniProtKB/TrEMBL
	Q5TF50	ENTREZGENE
	Q96CC5	ENTREZGENE
	Q96EX4	ENTREZGENE
	Q96K40	ENTREZGENE
	Q9UGC7	ENTREZGENE, UniProtKB/Swiss-Prot
	X6RKB4	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	B3KTA0	UniProtKB/Swiss-Prot
	Q3KR06	UniProtKB/Swiss-Prot
	Q5TF44	UniProtKB/Swiss-Prot
	Q5TF50	UniProtKB/Swiss-Prot
	Q96CC5	UniProtKB/Swiss-Prot
	Q96EX4	UniProtKB/Swiss-Prot
	Q96K40	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2021-01-11	MTRF1L	mitochondrial translation release factor 1 like	MTRF1L	mitochondrial translational release factor 1 like	Symbol and/or name change	19259463	PROVISIONAL
2015-12-01	MTRF1L	mitochondrial translational release factor 1 like		mitochondrial translational release factor 1-like	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 Disease Annotations - ClinVar