LARP7 (La ribonucleoprotein 7, transcriptional regulator)

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Gene: LARP7 (La ribonucleoprotein 7, transcriptional regulator) Homo sapiens

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Symbol:

LARP7

Name:

La ribonucleoprotein 7, transcriptional regulator

RGD ID:

1604813

HGNC Page

HGNC:24912

Description:

Enables 7SK snRNA binding activity and U6 snRNA binding activity. Involved in several processes, including RNA processing; negative regulation of viral transcription; and regulation of RNA metabolic process. Located in cytosol and nucleoplasm. Part of 7SK snRNP.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ALAZS; DKFZp564K112; HDCMA18P; hLARP7; La ribonucleoprotein domain family member 7; La ribonucleoprotein domain family, member 7; la-related protein 7; MGC104360; P-TEFb-interaction protein for 7SK stability; PIP7S

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

LARP7P1 LARP7P2 LARP7P3 LARP7P4

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	4	112,637,143 - 112,657,586 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	112,637,077 - 112,657,696 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	113,558,299 - 113,578,742 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	113,777,569 - 113,798,191 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	110,852,197 - 110,872,835 (+)	NCBI		Celera
Cytogenetic Map	4	q25	NCBI
HuRef	4	109,286,524 - 109,307,168 (+)	NCBI		HuRef
CHM1_1	4	113,534,600 - 113,555,241 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	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

Alazami Syndrome (IAGP)

Alazami-Yuan Syndrome (IAGP)

aniridia (IAGP)

Axenfeld-Rieger syndrome type 1 (IAGP)

Generalized Epilepsy (IAGP)

genetic disease (IAGP)

intellectual disability (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

2-hydroxypropanoic acid (EXP)

3',5'-cyclic UMP (EXP)

3,4-methylenedioxymethamphetamine (ISO)

3-chloropropane-1,2-diol (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4-hydroxyphenyl retinamide (ISO)

5-aza-2'-deoxycytidine (EXP)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

arsenite(3-) (ISO)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

carbamazepine (EXP)

chlorpyrifos (ISO)

chromium(6+) (ISO)

clofibrate (ISO)

clozapine (EXP)

deoxynivalenol (ISO)

dexamethasone (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

dorsomorphin (EXP)

doxorubicin (EXP,ISO)

entinostat (EXP)

enzyme inhibitor (EXP)

ethanol (EXP,ISO)

folic acid (ISO)

FR900359 (EXP)

indometacin (EXP)

ivermectin (EXP)

kojic acid (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

PCB138 (ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (EXP,ISO)

potassium chromate (EXP)

rac-lactic acid (EXP)

rotenone (ISO)

SB 431542 (EXP)

Soman (ISO)

sunitinib (EXP)

tamoxifen (ISO)

tanespimycin (EXP)

tetrachloromethane (ISO)

thimerosal (EXP)

thioacetamide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triptonide (ISO)

troglitazone (ISO)

tungsten (ISO)

valproic acid (EXP)

vorinostat (EXP)

zebularine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

box C/D sno(s)RNA 3'-end processing (IMP)

cell differentiation (IEA)

germ cell proliferation (ISO)

mRNA processing (IEA)

negative regulation of transcription by RNA polymerase II (IMP,ISO)

negative regulation of transcription elongation by RNA polymerase II (IC)

negative regulation of viral transcription (IMP)

positive regulation of G1/S transition of mitotic cell cycle (ISO)

positive regulation of protein localization to Cajal body (IDA)

positive regulation of snRNA transcription by RNA polymerase II (IDA)

regulation of mRNA splicing, via spliceosome (IMP)

RNA processing (IEA)

RNA splicing (IEA)

spermatogenesis (IEA,ISS)

U6 2'-O-snRNA methylation (IMP)

Cellular Component

7SK snRNP (IDA)

cytosol (IDA)

nucleoplasm (IDA,IEA)

nucleus (IBA,IDA,IEA)

ribonucleoprotein complex (IDA,IEA)

Molecular Function

7SK snRNA binding (IDA)

mRNA binding (IBA)

protein binding (IPI)

RNA binding (HDA,IEA)

U6 snRNA binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal brain morphology (IAGP)

Abnormal eating behavior (IAGP)

Abnormality of the orbital region (IAGP)

Anxiety (IAGP)

Atrial septal defect (IAGP)

Autistic behavior (IAGP)

Autosomal recessive inheritance (IAGP)

Cutis marmorata (IAGP)

Decreased body weight (IAGP)

Deeply set eye (IAGP)

Depressed nasal bridge (IAGP)

Epileptic encephalopathy (IAGP)

Global developmental delay (IAGP)

Intellectual disability (IAGP)

Intellectual disability, severe (IAGP)

Low-set ears (IAGP)

Malar flattening (IAGP)

Microcephaly (IAGP)

Mild microcephaly (IAGP)

Motor stereotypy (IAGP)

Narrow palpebral fissure (IAGP)

Postnatal growth retardation (IAGP)

Prominent forehead (IAGP)

Retractile testis (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

Self-mutilation (IAGP)

Severe short stature (IAGP)

Short palpebral fissure (IAGP)

Short philtrum (IAGP)

Sleep abnormality (IAGP)

Sleep apnea (IAGP)

Slender long bone (IAGP)

Sparse eyebrow (IAGP)

Stereotypical hand wringing (IAGP)

Strabismus (IAGP)

Thick vermilion border (IAGP)

Thickened skin (IAGP)

Triangular face (IAGP)

Wide mouth (IAGP)

Wide nasal bridge (IAGP)

Wide nose (IAGP)

Widely spaced teeth (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:8125298	PMID:8889548	PMID:12477932	PMID:15146197	PMID:16344560	PMID:17643375	PMID:18029348	PMID:18191186	PMID:18249148	PMID:18281698	PMID:18483487	PMID:19906723
PMID:20332099	PMID:20360068	PMID:20410271	PMID:20471949	PMID:20562857	PMID:20683478	PMID:20811636	PMID:21145461	PMID:21832049	PMID:21853533	PMID:21873635	PMID:21900206
PMID:21957495	PMID:22113938	PMID:22190034	PMID:22488152	PMID:22567366	PMID:22586326	PMID:22658674	PMID:22681889	PMID:22863883	PMID:22865833	PMID:22990118	PMID:23340209
PMID:23455922	PMID:23455924	PMID:23518577	PMID:23602568	PMID:23678366	PMID:23887937	PMID:24169447	PMID:24316072	PMID:24367103	PMID:24457600	PMID:24607481	PMID:24778252
PMID:25053741	PMID:25281560	PMID:25324306	PMID:25470060	PMID:25609649	PMID:25665578	PMID:25693804	PMID:25731772	PMID:25753663	PMID:25863285	PMID:25921289	PMID:26186194
PMID:26344197	PMID:26496610	PMID:26659056	PMID:26725010	PMID:27679474	PMID:27684187	PMID:27766953	PMID:28077445	PMID:28254838	PMID:28276505	PMID:28330616	PMID:28431135
PMID:28431233	PMID:28514442	PMID:28533407	PMID:28695742	PMID:28700943	PMID:28977666	PMID:29509190	PMID:29513927	PMID:29568061	PMID:29620212	PMID:29791506	PMID:29802200
PMID:29845934	PMID:29884807	PMID:29946027	PMID:30021884	PMID:30177828	PMID:30463901	PMID:30471916	PMID:30824372	PMID:30833792	PMID:30890647	PMID:30942445	PMID:30948266
PMID:31046837	PMID:31048545	PMID:31300519	PMID:31343991	PMID:31527615	PMID:31586073	PMID:31753913	PMID:31822558	PMID:32017898	PMID:32129710	PMID:32239614	PMID:32353859
PMID:32416067	PMID:32707033	PMID:32726637	PMID:32888391	PMID:33060197	PMID:33131423	PMID:33187986	PMID:33306668	PMID:33356342	PMID:33569879	PMID:33663221	PMID:33742100
PMID:33957083	PMID:33961781	PMID:34079125	PMID:34107850	PMID:34244482	PMID:34578187	PMID:34591612	PMID:34732716	PMID:34767673	PMID:34818543	PMID:35013218	PMID:35271311
PMID:35575683	PMID:35652658	PMID:35831314	PMID:35850772	PMID:35915203	PMID:35944360	PMID:36057605	PMID:36168628	PMID:36215168	PMID:36244648	PMID:36779763	PMID:36912080
PMID:37314180	PMID:37689310	PMID:37827155	PMID:38113892	PMID:39009594	PMID:39238192

Genomics

Comparative Map Data

LARP7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	112,637,077 - 112,657,696 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	113,558,299 - 113,578,742 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	113,777,569 - 113,798,191 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	110,852,197 - 110,872,835 (+)	NCBI		Celera
Cytogenetic Map	4	q25	NCBI
HuRef	4	109,286,524 - 109,307,168 (+)	NCBI		HuRef
CHM1_1	4	113,534,600 - 113,555,241 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI		T2T-CHM13v2.0

Larp7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	127,330,363 - 127,346,998 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	127,330,363 - 127,346,998 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	127,536,714 - 127,553,349 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	127,536,714 - 127,553,349 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	127,239,632 - 127,256,267 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	127,528,736 - 127,536,271 (-)	NCBI		MGSCv36	mm8
Celera	3	134,026,262 - 134,045,696 (-)	NCBI		Celera
Cytogenetic Map	3	G2	NCBI
cM Map	3	56.54	NCBI

Larp7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	218,672,145 - 218,687,332 (-)	NCBI		GRCr8
mRatBN7.2	2	215,997,641 - 216,012,833 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	215,997,649 - 216,012,865 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	223,661,815 - 223,676,912 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	221,561,674 - 221,576,771 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	216,416,573 - 216,431,677 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	231,866,888 - 231,882,002 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	231,867,135 - 231,881,939 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	251,212,469 - 251,227,583 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	2	208,314,421 - 208,329,446 (-)	NCBI		Celera
Cytogenetic Map	2	q42	NCBI

Larp7
(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_004955457	14,178,947 - 14,192,193 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955457	14,178,674 - 14,200,164 (-)	NCBI	ChiLan1.0	ChiLan1.0

LARP7
(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	3	110,714,437 - 110,735,586 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	111,007,851 - 111,029,020 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	105,128,335 - 105,149,498 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	115,690,359 - 115,711,263 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	115,698,093 - 115,711,003 (+)	Ensembl	panpan1.1		panPan2

LARP7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	32	32,421,648 - 32,439,431 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	32	32,421,675 - 32,439,131 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	32	9,592,325 - 9,610,142 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	32	32,647,426 - 32,665,234 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	32	32,647,840 - 32,665,239 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	32	32,630,137 - 32,647,867 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	32	32,392,041 - 32,409,799 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	32	7,450,765 - 7,468,554 (-)	NCBI		UU_Cfam_GSD_1.0

Larp7
(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_024405301	8,434,294 - 8,454,181 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936563	3,455,045 - 3,475,417 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936563	3,455,205 - 3,474,955 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LARP7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	110,069,829 - 110,089,708 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	110,069,565 - 110,089,789 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	115,189,078 - 115,208,643 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LARP7
(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	7	60,407,137 - 60,429,885 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	60,406,618 - 60,430,080 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	39,166,011 - 39,188,617 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Larp7
(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_004624838	6,413,494 - 6,425,939 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624838	6,331,393 - 6,426,151 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LARP7
187 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_016648.4(LARP7):c.646+3_646+6del	deletion	not provided [RCV000521161]	Chr4:112647128..112647131 [GRCh38] Chr4:113568284..113568287 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1417-2_1421del	deletion	not provided [RCV000519628]	Chr4:112653074..112653080 [GRCh38] Chr4:113574230..113574236 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV000032816]	Chr4:112647714..112647715 [GRCh38] Chr4:113568870..113568871 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.828_829insN (p.Lys277fs)	insertion	Microcephalic primordial dwarfism, Alazami type [RCV000034361]	Chr4:112647380..112647381 [GRCh38] Chr4:113568536..113568537 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.203-3T>G	single nucleotide variant	LARP7-related disorder [RCV003960239]\|not provided [RCV000519412]	Chr4:112646348 [GRCh38] Chr4:113567504 [GRCh37] Chr4:4q25	likely benign\|uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|See cases [RCV000051775]	Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3	pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	copy number gain	See cases [RCV000051776]	Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3	pathogenic
NM_016648.4(LARP7):c.10G>A (p.Glu4Lys)	single nucleotide variant	not provided [RCV002055288]\|not specified [RCV000117485]	Chr4:112644679 [GRCh38] Chr4:113565835 [GRCh37] Chr4:4q25	benign\|likely benign
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp)	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV002280102]\|not provided [RCV000964409]\|not specified [RCV000117486]	Chr4:112647203 [GRCh38] Chr4:113568359 [GRCh37] Chr4:4q25	likely pathogenic\|benign\|likely benign
NM_016648.4(LARP7):c.836G>A (p.Arg279Gln)	single nucleotide variant	not provided [RCV001682816]\|not specified [RCV000117487]	Chr4:112647388 [GRCh38] Chr4:112647388..112647389 [GRCh38] Chr4:113568544 [GRCh37] Chr4:113568544..113568545 [GRCh37] Chr4:4q25	benign\|likely benign
GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	copy number loss	See cases [RCV000134955]	Chr4:111069785..116691879 [GRCh38] Chr4:111990941..117613035 [GRCh37] Chr4:112210390..117832483 [NCBI36] Chr4:4q25-26	likely pathogenic
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV002280110]\|not provided [RCV000998258]\|not specified [RCV000202866]	Chr4:112646604 [GRCh38] Chr4:113567760 [GRCh37] Chr4:4q25	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 4q25(chr4:112564382-112823236)x3	copy number gain	See cases [RCV000138881]	Chr4:112564382..112823236 [GRCh38] Chr4:113485538..113744392 [GRCh37] Chr4:113704987..113963841 [NCBI36] Chr4:4q25	uncertain significance
NC_000004.10:g.111994000_115504000del3510001	deletion	Congenital aniridia [RCV000257787]	Chr4:110853395..114363395 [GRCh38] Chr4:111774551..115284551 [GRCh37] Chr4:111994000..115504000 [NCBI36] Chr4:4q25-26	pathogenic
NM_016648.4(LARP7):c.802_1142+267del	deletion	Microcephalic primordial dwarfism, Alazami type [RCV000192883]	Chr4:112647352..112648099 [GRCh38] Chr4:113568508..113569255 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.65A>T (p.Glu22Val)	single nucleotide variant	Inborn genetic diseases [RCV003278873]\|not provided [RCV000520554]	Chr4:112644734 [GRCh38] Chr4:113565890 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.298dup (p.Val100fs)	duplication	not provided [RCV000489417]	Chr4:112646445..112646446 [GRCh38] Chr4:113567601..113567602 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.782_783del (p.Gly260_Ser261insTer)	microsatellite	not provided [RCV000489724]	Chr4:112647332..112647333 [GRCh38] Chr4:113568488..113568489 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.427del (p.Arg143fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV000723344]	Chr4:112646828 [GRCh38] Chr4:113567984 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.834dup (p.Arg279fs)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV001262130]\|not provided [RCV000599079]	Chr4:112647380..112647381 [GRCh38] Chr4:113568536..113568537 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.646+5G>C	single nucleotide variant	not provided [RCV000599392]	Chr4:112647132 [GRCh38] Chr4:113568288 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.3(LARP7):c.651_655del	microsatellite	Microcephalic primordial dwarfism, Alazami type [RCV000415535]\|not provided [RCV001575937]	Chr4:112647197..112647201 [GRCh38] Chr4:113568353..113568357 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.213_214dup (p.Ser72fs)	microsatellite	Microcephalic primordial dwarfism, Alazami type [RCV000415594]	Chr4:112646356..112646357 [GRCh38] Chr4:113567512..113567513 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.832A>T (p.Lys278Ter)	single nucleotide variant	Abnormal brain morphology [RCV000454270]\|Microcephalic primordial dwarfism, Alazami type [RCV003225942]	Chr4:112647384 [GRCh38] Chr4:113568540 [GRCh37] Chr4:4q25	likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_016648.4(LARP7):c.1213dup (p.Thr405fs)	duplication	not provided [RCV000442915]	Chr4:112649597..112649598 [GRCh38] Chr4:113570753..113570754 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.552+1G>T	single nucleotide variant	Inborn genetic diseases [RCV004639233]\|Microcephalic primordial dwarfism, Alazami type [RCV001782900]\|not provided [RCV000426555]	Chr4:112646956 [GRCh38] Chr4:113568112 [GRCh37] Chr4:4q25	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 4q25-26(chr4:112857598-115434654)x1	copy number loss	See cases [RCV000448547]	Chr4:112857598..115434654 [GRCh37] Chr4:4q25-26	likely pathogenic
NM_016648.4(LARP7):c.1620_1623del (p.Ala542fs)	deletion	not provided [RCV000485984]	Chr4:112654109..112654112 [GRCh38] Chr4:113575265..113575268 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.328C>T (p.Arg110Trp)	single nucleotide variant	not provided [RCV000479468]	Chr4:112646612 [GRCh38] Chr4:113567768 [GRCh37] Chr4:4q25	likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	copy number gain	See cases [RCV000511945]	Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2	pathogenic
NM_016648.4(LARP7):c.552+31A>G	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV000625925]	Chr4:112646986 [GRCh38] Chr4:113568142 [GRCh37] Chr4:4q25	uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	copy number gain	See cases [RCV000510970]	Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2	pathogenic
NM_016648.4(LARP7):c.503_504dup (p.Ala169fs)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV000627072]	Chr4:112646904..112646905 [GRCh38] Chr4:113568060..113568061 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.618_619insTT (p.Lys207fs)	insertion	not provided [RCV000627454]	Chr4:112647098..112647099 [GRCh38] Chr4:113568254..113568255 [GRCh37] Chr4:4q25	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_016648.4(LARP7):c.1427C>T (p.Ala476Val)	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV003487091]	Chr4:112653087 [GRCh38] Chr4:113574243 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1669-1_1671del	deletion	Alazami-Yuan syndrome [RCV002470948]\|Epileptic encephalopathy [RCV001526548]\|Intellectual disability [RCV000678485]	Chr4:112657243..112657246 [GRCh38] Chr4:113578399..113578402 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q25(chr4:113175966-113835185)x1	copy number loss	not provided [RCV000743921]	Chr4:113175966..113835185 [GRCh37] Chr4:4q25	uncertain significance
GRCh37/hg19 4q25(chr4:113533796-113894682)x3	copy number gain	not provided [RCV000743924]	Chr4:113533796..113894682 [GRCh37] Chr4:4q25	benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_016648.4(LARP7):c.1668+181A>T	single nucleotide variant	not provided [RCV001681430]	Chr4:112654340 [GRCh38] Chr4:113575496 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1529_1541del (p.Tyr510fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV000991426]	Chr4:112653189..112653201 [GRCh38] Chr4:113574345..113574357 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1669-76TG[19]	microsatellite	not provided [RCV001610841]	Chr4:112657170..112657171 [GRCh38] Chr4:113578326..113578327 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1142+7_1142+8del	deletion	not provided [RCV000904120]	Chr4:112647840..112647841 [GRCh38] Chr4:113568996..113568997 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1039C>T (p.Leu347=)	single nucleotide variant	not provided [RCV000936288]	Chr4:112647731 [GRCh38] Chr4:113568887 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1748G>A (p.Ter583=)	single nucleotide variant	not provided [RCV000950126]	Chr4:112657326 [GRCh38] Chr4:113578482 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1001T>C (p.Ile334Thr)	single nucleotide variant	not provided [RCV000883471]	Chr4:112647693 [GRCh38] Chr4:113568849 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1337C>A (p.Ala446Glu)	single nucleotide variant	not provided [RCV000926266]	Chr4:112650503 [GRCh38] Chr4:113571659 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.141G>T (p.Gly47=)	single nucleotide variant	LARP7-related disorder [RCV003953331]\|not provided [RCV000973638]	Chr4:112644810 [GRCh38] Chr4:113565966 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.734A>G (p.Asn245Ser)	single nucleotide variant	LARP7-related disorder [RCV003968090]\|not provided [RCV000888687]\|not specified [RCV001818648]	Chr4:112647286 [GRCh38] Chr4:113568442 [GRCh37] Chr4:4q25	benign\|likely benign
NM_016648.4(LARP7):c.1530T>C (p.Tyr510=)	single nucleotide variant	not provided [RCV000900324]	Chr4:112653190 [GRCh38] Chr4:113574346 [GRCh37] Chr4:4q25	benign\|likely benign
NM_016648.4(LARP7):c.1314T>C (p.Cys438=)	single nucleotide variant	not provided [RCV000940572]	Chr4:112650480 [GRCh38] Chr4:113571636 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV000824903]\|not provided [RCV001268018]	Chr4:112647782..112647785 [GRCh38] Chr4:113568938..113568941 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.203-12_231del	deletion	Microcephalic primordial dwarfism, Alazami type [RCV000824902]	Chr4:112646335..112646375 [GRCh38] Chr4:113567491..113567531 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.679C>T (p.Arg227Ter)	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV000987466]	Chr4:112647231 [GRCh38] Chr4:113568387 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.849A>G (p.Glu283=)	single nucleotide variant	not provided [RCV000915646]	Chr4:112647401 [GRCh38] Chr4:113568557 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1089_1090del (p.His363fs)	deletion	not provided [RCV001008338]	Chr4:112647780..112647781 [GRCh38] Chr4:113568936..113568937 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.62AAG[1] (p.Glu22del)	microsatellite	LARP7-related disorder [RCV003935894]\|not provided [RCV000958538]	Chr4:112644731..112644733 [GRCh38] Chr4:113565887..113565889 [GRCh37] Chr4:4q25	likely benign
GRCh37/hg19 4q25(chr4:113116277-113602286)x3	copy number gain	not provided [RCV000847514]	Chr4:113116277..113602286 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.960C>T (p.Ile320=)	single nucleotide variant	not provided [RCV003104426]	Chr4:112647512 [GRCh38] Chr4:113568668 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1143-52C>A	single nucleotide variant	not provided [RCV001681215]	Chr4:112649483 [GRCh38] Chr4:113570639 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.712GAA[1] (p.Glu239del)	microsatellite	not provided [RCV001572955]	Chr4:112647262..112647264 [GRCh38] Chr4:113568418..113568420 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.963T>C (p.Ile321=)	single nucleotide variant	not provided [RCV000917202]	Chr4:112647515 [GRCh38] Chr4:113568671 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1336G>A (p.Ala446Thr)	single nucleotide variant	not provided [RCV000926265]	Chr4:112650502 [GRCh38] Chr4:113571658 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1013C>T (p.Thr338Ile)	single nucleotide variant	not provided [RCV000880134]	Chr4:112647705 [GRCh38] Chr4:113568861 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1332T>A (p.Val444=)	single nucleotide variant	not provided [RCV000932168]	Chr4:112650498 [GRCh38] Chr4:113571654 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.669G>A (p.Lys223=)	single nucleotide variant	not provided [RCV000912140]	Chr4:112647221 [GRCh38] Chr4:113568377 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.556_558del (p.Leu186del)	deletion	not provided [RCV000998259]	Chr4:112647035..112647037 [GRCh38] Chr4:113568191..113568193 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.290C>A (p.Ser97Ter)	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV004594648]	Chr4:112646438 [GRCh38] Chr4:113567594 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.728_729dup (p.Ser244fs)	microsatellite	not provided [RCV002467346]	Chr4:112647276..112647277 [GRCh38] Chr4:113568432..113568433 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1577-119T>C	single nucleotide variant	not provided [RCV001688814]	Chr4:112653949 [GRCh38] Chr4:113575105 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.*126C>T	single nucleotide variant	not provided [RCV001685268]	Chr4:112657453 [GRCh38] Chr4:113578609 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1294+230_1294+231del	deletion	not provided [RCV001619689]	Chr4:112649915..112649916 [GRCh38] Chr4:113571071..113571072 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1142+145G>T	single nucleotide variant	not provided [RCV001620169]	Chr4:112647979 [GRCh38] Chr4:113569135 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.552+33_552+36del	microsatellite	not provided [RCV001669312]	Chr4:112646981..112646984 [GRCh38] Chr4:113568137..113568140 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1143-224G>A	single nucleotide variant	not provided [RCV001714124]	Chr4:112649311 [GRCh38] Chr4:113570467 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.202+264T>C	single nucleotide variant	not provided [RCV001678980]	Chr4:112645135 [GRCh38] Chr4:113566291 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1294+43T>C	single nucleotide variant	not provided [RCV001684715]	Chr4:112649729 [GRCh38] Chr4:113570885 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1417-15T>G	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV001332153]	Chr4:112653062 [GRCh38] Chr4:113574218 [GRCh37] Chr4:4q25	uncertain significance
GRCh37/hg19 4q25(chr4:112481911-113756889)	copy number gain	Neurodevelopmental delay [RCV002280697]	Chr4:112481911..113756889 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.697_698del (p.Asn233fs)	deletion	not provided [RCV001268017]	Chr4:112647249..112647250 [GRCh38] Chr4:113568405..113568406 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.420del (p.Ser139_Trp140insTer)	deletion	Alazami syndrome [RCV001333932]	Chr4:112646822 [GRCh38] Chr4:113567978 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1599G>A (p.Trp533Ter)	single nucleotide variant	not provided [RCV001382381]	Chr4:112654090 [GRCh38] Chr4:113575246 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1669-76TG[18]	microsatellite	not provided [RCV001686343]	Chr4:112657170..112657171 [GRCh38] Chr4:113578326..113578327 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1668+114T>G	single nucleotide variant	not provided [RCV001668990]	Chr4:112654273 [GRCh38] Chr4:113575429 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.203-344_203-343dup	duplication	not provided [RCV001675163]	Chr4:112646005..112646006 [GRCh38] Chr4:113567161..113567162 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1668+116A>G	single nucleotide variant	not provided [RCV001650216]	Chr4:112654275 [GRCh38] Chr4:113575431 [GRCh37] Chr4:4q25	benign
NM_016648.3:c.392_997del	deletion	Epileptic encephalopathy [RCV001526549]		pathogenic
NM_016648.4(LARP7):c.1018del (p.Glu340fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV001782376]	Chr4:112647710 [GRCh38] Chr4:113568866 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.887_888insTCTC (p.Lys296fs)	insertion	Microcephalic primordial dwarfism, Alazami type [RCV001782375]	Chr4:112647439..112647440 [GRCh38] Chr4:113568595..113568596 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1136T>C (p.Leu379Pro)	single nucleotide variant	not provided [RCV001758071]	Chr4:112647828 [GRCh38] Chr4:113568984 [GRCh37] Chr4:4q25	likely pathogenic\|uncertain significance
NM_016648.4(LARP7):c.789dup (p.Glu264Ter)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV001754575]	Chr4:112647339..112647340 [GRCh38] Chr4:113568495..113568496 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.297_303+2del	deletion	Microcephalic primordial dwarfism, Alazami type [RCV001783594]	Chr4:112646443..112646451 [GRCh38] Chr4:113567599..113567607 [GRCh37] Chr4:4q25	pathogenic\|conflicting interpretations of pathogenicity
NM_016648.4(LARP7):c.64_65del (p.Glu22fs)	deletion	LARP7-related disorder [RCV004753384]\|Microcephalic primordial dwarfism, Alazami type [RCV001754571]\|not provided [RCV003442900]	Chr4:112644732..112644733 [GRCh38] Chr4:113565888..113565889 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.422_429del (p.Ile141fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV001782377]	Chr4:112646823..112646830 [GRCh38] Chr4:113567979..113567986 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1056_1057del (p.Leu353fs)	microsatellite	Microcephalic primordial dwarfism, Alazami type [RCV001782374]	Chr4:112647742..112647743 [GRCh38] Chr4:113568898..113568899 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.119dup (p.Gln41fs)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV003234113]\|not provided [RCV002544248]	Chr4:112644786..112644787 [GRCh38] Chr4:113565942..113565943 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.1045_1051dup (p.Ser351Ter)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV001785328]	Chr4:112647736..112647737 [GRCh38] Chr4:113568892..113568893 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1147G>T (p.Glu383Ter)	single nucleotide variant	not provided [RCV001815934]	Chr4:112649539 [GRCh38] Chr4:113570695 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.552+1G>A	single nucleotide variant	not provided [RCV001995500]	Chr4:112646956 [GRCh38] Chr4:113568112 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1297G>C (p.Ala433Pro)	single nucleotide variant	not provided [RCV002040686]	Chr4:112650463 [GRCh38] Chr4:113571619 [GRCh37] Chr4:4q25	uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
NM_016648.4(LARP7):c.712_713del (p.Glu238fs)	deletion	not provided [RCV001866719]	Chr4:112647263..112647264 [GRCh38] Chr4:113568419..113568420 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1271A>G (p.Asn424Ser)	single nucleotide variant	not provided [RCV001876962]	Chr4:112649663 [GRCh38] Chr4:113570819 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.671A>G (p.Lys224Arg)	single nucleotide variant	not provided [RCV002043356]	Chr4:112647223 [GRCh38] Chr4:113568379 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.691_694del (p.Glu231fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV001840947]	Chr4:112647240..112647243 [GRCh38] Chr4:113568396..113568399 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1354G>A (p.Val452Met)	single nucleotide variant	Inborn genetic diseases [RCV004045457]\|not provided [RCV001999034]	Chr4:112650520 [GRCh38] Chr4:113571676 [GRCh37] Chr4:4q25	uncertain significance
GRCh37/hg19 4q25-26(chr4:112849108-115434557)	copy number loss	not specified [RCV002053449]	Chr4:112849108..115434557 [GRCh37] Chr4:4q25-26	likely pathogenic
NM_016648.4(LARP7):c.723G>A (p.Met241Ile)	single nucleotide variant	not provided [RCV002020765]	Chr4:112647275 [GRCh38] Chr4:113568431 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.690_699delinsTCCAAGCCAATAGACAATATCCAAGCC (p.Lys230_Asn233delinsAsnProSerGlnTer)	indel	Microcephalic primordial dwarfism, Alazami type [RCV002052283]\|not provided [RCV002550511]	Chr4:112647242..112647251 [GRCh38] Chr4:113568398..113568407 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.194G>A (p.Arg65Lys)	single nucleotide variant	not provided [RCV002029767]	Chr4:112644863 [GRCh38] Chr4:113566019 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.858C>G (p.Ser286Arg)	single nucleotide variant	not provided [RCV002040792]	Chr4:112647410 [GRCh38] Chr4:113568566 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.148A>C (p.Asn50His)	single nucleotide variant	not provided [RCV002015717]	Chr4:112644817 [GRCh38] Chr4:113565973 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.387+5G>C	single nucleotide variant	not provided [RCV002011153]	Chr4:112646676 [GRCh38] Chr4:113567832 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.666GAA[2] (p.Lys225del)	microsatellite	not provided [RCV002017941]	Chr4:112647216..112647218 [GRCh38] Chr4:113568372..113568374 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.764G>C (p.Arg255Thr)	single nucleotide variant	Inborn genetic diseases [RCV004641706]\|not provided [RCV002051232]	Chr4:112647316 [GRCh38] Chr4:113568472 [GRCh37] Chr4:4q25	uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	copy number gain	not specified [RCV002053446]	Chr4:104715235..145252595 [GRCh37] Chr4:4q24-31.21	pathogenic
NM_016648.4(LARP7):c.1055_1058del (p.Leu352fs)	deletion	not provided [RCV001958995]	Chr4:112647747..112647750 [GRCh38] Chr4:113568903..113568906 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1468G>A (p.Asp490Asn)	single nucleotide variant	Inborn genetic diseases [RCV002555233]\|not provided [RCV001887187]	Chr4:112653128 [GRCh38] Chr4:113574284 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.256G>A (p.Asp86Asn)	single nucleotide variant	Inborn genetic diseases [RCV004641862]\|not provided [RCV001980332]	Chr4:112646404 [GRCh38] Chr4:113567560 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.335A>G (p.Lys112Arg)	single nucleotide variant	not provided [RCV001950015]	Chr4:112646619 [GRCh38] Chr4:113567775 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.825_834del (p.Lys275fs)	deletion	not provided [RCV001956261]	Chr4:112647375..112647384 [GRCh38] Chr4:113568531..113568540 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1358del (p.Ser453fs)	deletion	not provided [RCV001956230]	Chr4:112650524 [GRCh38] Chr4:113571680 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.835C>T (p.Arg279Trp)	single nucleotide variant	not provided [RCV001988493]	Chr4:112647387 [GRCh38] Chr4:113568543 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1613T>C (p.Val538Ala)	single nucleotide variant	not provided [RCV001931763]	Chr4:112654104 [GRCh38] Chr4:113575260 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1495A>T (p.Thr499Ser)	single nucleotide variant	not provided [RCV001961607]	Chr4:112653155 [GRCh38] Chr4:113574311 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.958A>G (p.Ile320Val)	single nucleotide variant	not provided [RCV001880760]	Chr4:112647510 [GRCh38] Chr4:113568666 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1389G>T (p.Glu463Asp)	single nucleotide variant	not provided [RCV001966883]	Chr4:112650555 [GRCh38] Chr4:113571711 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.970G>A (p.Ala324Thr)	single nucleotide variant	not provided [RCV001941154]	Chr4:112647522 [GRCh38] Chr4:113568678 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.386T>C (p.Val129Ala)	single nucleotide variant	not provided [RCV001914775]	Chr4:112646670 [GRCh38] Chr4:113567826 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1059G>C (p.Leu353Phe)	single nucleotide variant	not provided [RCV001974092]	Chr4:112647751 [GRCh38] Chr4:113568907 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.978A>T (p.Glu326Asp)	single nucleotide variant	not provided [RCV001931834]	Chr4:112647530 [GRCh38] Chr4:113568686 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1147G>A (p.Glu383Lys)	single nucleotide variant	not provided [RCV001968128]	Chr4:112649539 [GRCh38] Chr4:113570695 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.878_896del (p.Gly293fs)	deletion	not provided [RCV001883087]	Chr4:112647427..112647445 [GRCh38] Chr4:113568583..113568601 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.191C>A (p.Ser64Tyr)	single nucleotide variant	not provided [RCV001974026]	Chr4:112644860 [GRCh38] Chr4:113566016 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1166_1167del (p.Lys389fs)	deletion	not provided [RCV001888732]	Chr4:112649554..112649555 [GRCh38] Chr4:113570710..113570711 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1130G>A (p.Arg377Lys)	single nucleotide variant	not provided [RCV001948199]	Chr4:112647822 [GRCh38] Chr4:113568978 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1416G>A (p.Arg472=)	single nucleotide variant	not provided [RCV001918342]	Chr4:112650582 [GRCh38] Chr4:113571738 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.822GAAAAA[1] (p.Lys277_Lys278del)	microsatellite	not provided [RCV001903317]	Chr4:112647371..112647376 [GRCh38] Chr4:113568527..113568532 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1295-17T>C	single nucleotide variant	not provided [RCV002219345]	Chr4:112650444 [GRCh38] Chr4:113571600 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1677C>T (p.Thr559=)	single nucleotide variant	not provided [RCV002104524]	Chr4:112657255 [GRCh38] Chr4:113578411 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.202+10C>T	single nucleotide variant	not provided [RCV002110558]	Chr4:112644881 [GRCh38] Chr4:113566037 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.*9dup (p.Ter583=)	duplication	not provided [RCV002167204]	Chr4:112657326..112657327 [GRCh38] Chr4:113578482..113578483 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.1295-20C>T	single nucleotide variant	not provided [RCV002213814]	Chr4:112650441 [GRCh38] Chr4:113571597 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.993T>C (p.Asn331=)	single nucleotide variant	not provided [RCV002108944]	Chr4:112647545 [GRCh38] Chr4:113568701 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.561C>T (p.Asn187=)	single nucleotide variant	not provided [RCV002220778]	Chr4:112647042 [GRCh38] Chr4:113568198 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1577-9_1577-6del	microsatellite	not provided [RCV002115687]	Chr4:112654052..112654055 [GRCh38] Chr4:113575208..113575211 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.552+27_552+28del	deletion	not provided [RCV002120689]	Chr4:112646971..112646972 [GRCh38] Chr4:113568127..113568128 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.918A>G (p.Leu306=)	single nucleotide variant	not provided [RCV002119923]	Chr4:112647470 [GRCh38] Chr4:113568626 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1142+19T>A	single nucleotide variant	not provided [RCV002142576]	Chr4:112647853 [GRCh38] Chr4:113569009 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.453T>C (p.Val151=)	single nucleotide variant	not provided [RCV002153790]	Chr4:112646856 [GRCh38] Chr4:113568012 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.396T>C (p.Leu132=)	single nucleotide variant	not provided [RCV002088309]	Chr4:112646799 [GRCh38] Chr4:113567955 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.*9del (p.Ter583=)	deletion	not provided [RCV002187125]	Chr4:112657327 [GRCh38] Chr4:113578483 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.997+14G>A	single nucleotide variant	not provided [RCV002138714]	Chr4:112647563 [GRCh38] Chr4:113568719 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.247T>C (p.Leu83=)	single nucleotide variant	not provided [RCV002078281]	Chr4:112646395 [GRCh38] Chr4:113567551 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1576+17G>A	single nucleotide variant	not provided [RCV002111341]	Chr4:112653253 [GRCh38] Chr4:113574409 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.738C>A (p.Thr246=)	single nucleotide variant	not provided [RCV002127935]	Chr4:112647290 [GRCh38] Chr4:113568446 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.231T>C (p.Phe77=)	single nucleotide variant	not provided [RCV002089493]	Chr4:112646379 [GRCh38] Chr4:113567535 [GRCh37] Chr4:4q25	likely benign
Single allele	duplication	not provided [RCV002227708]	Chr4:112631945..112883056 [GRCh38] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.837G>C (p.Arg279=)	single nucleotide variant	LARP7-related disorder [RCV003973760]\|not provided [RCV003118263]	Chr4:112647389 [GRCh38] Chr4:113568545 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1429G>A (p.Ala477Thr)	single nucleotide variant	not provided [RCV003118744]	Chr4:112653089 [GRCh38] Chr4:113574245 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.223_229del (p.Val75fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV003234606]	Chr4:112646368..112646374 [GRCh38] Chr4:113567524..113567530 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.931_950del (p.Lys311fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV002287861]	Chr4:112647480..112647499 [GRCh38] Chr4:113568636..113568655 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.225_226del (p.Ser76fs)	microsatellite	Microcephalic primordial dwarfism, Alazami type [RCV002463564]	Chr4:112646370..112646371 [GRCh38] Chr4:113567526..113567527 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.34A>G (p.Met12Val)	single nucleotide variant	not provided [RCV002296480]	Chr4:112644703 [GRCh38] Chr4:113565859 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.552+28dup	duplication	not provided [RCV002771613]	Chr4:112646970..112646971 [GRCh38] Chr4:113568126..113568127 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.387+7T>C	single nucleotide variant	not provided [RCV003095679]	Chr4:112646678 [GRCh38] Chr4:113567834 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.387+10A>G	single nucleotide variant	not provided [RCV003095680]	Chr4:112646681 [GRCh38] Chr4:113567837 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.850G>A (p.Ala284Thr)	single nucleotide variant	Inborn genetic diseases [RCV002992514]	Chr4:112647402 [GRCh38] Chr4:113568558 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.451G>A (p.Val151Ile)	single nucleotide variant	not provided [RCV002751223]	Chr4:112646854 [GRCh38] Chr4:113568010 [GRCh37] Chr4:4q25	benign
NM_016648.4(LARP7):c.846T>G (p.Val282=)	single nucleotide variant	not provided [RCV002775689]	Chr4:112647398 [GRCh38] Chr4:113568554 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.646+6T>C	single nucleotide variant	not provided [RCV002461883]	Chr4:112647133 [GRCh38] Chr4:113568289 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.883A>G (p.Arg295Gly)	single nucleotide variant	Inborn genetic diseases [RCV002865769]	Chr4:112647435 [GRCh38] Chr4:113568591 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1596T>C (p.Tyr532=)	single nucleotide variant	not provided [RCV002755174]	Chr4:112654087 [GRCh38] Chr4:113575243 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1093G>C (p.Glu365Gln)	single nucleotide variant	not provided [RCV002996921]	Chr4:112647785 [GRCh38] Chr4:113568941 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1026G>A (p.Lys342=)	single nucleotide variant	not provided [RCV002948204]	Chr4:112647718 [GRCh38] Chr4:113568874 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1599G>T (p.Trp533Cys)	single nucleotide variant	Inborn genetic diseases [RCV002777754]	Chr4:112654090 [GRCh38] Chr4:113575246 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1112AAG[1] (p.Glu372del)	microsatellite	not provided [RCV002993857]	Chr4:112647802..112647804 [GRCh38] Chr4:113568958..113568960 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1598G>T (p.Trp533Leu)	single nucleotide variant	Inborn genetic diseases [RCV002777753]	Chr4:112654089 [GRCh38] Chr4:113575245 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.998-19_998-17del	deletion	not provided [RCV003016660]	Chr4:112647671..112647673 [GRCh38] Chr4:113568827..113568829 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.299T>A (p.Val100Glu)	single nucleotide variant	Inborn genetic diseases [RCV002818431]	Chr4:112646447 [GRCh38] Chr4:113567603 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1576+15A>T	single nucleotide variant	not provided [RCV002593106]	Chr4:112653251 [GRCh38] Chr4:113574407 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.503T>A (p.Phe168Tyr)	single nucleotide variant	not provided [RCV003018092]	Chr4:112646906 [GRCh38] Chr4:113568062 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.23A>G (p.Gln8Arg)	single nucleotide variant	Inborn genetic diseases [RCV002981514]	Chr4:112644692 [GRCh38] Chr4:113565848 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.377_378del (p.Thr126fs)	microsatellite	not provided [RCV002786091]	Chr4:112646659..112646660 [GRCh38] Chr4:113567815..113567816 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.461_462del (p.Ile154fs)	microsatellite	not provided [RCV002706110]	Chr4:112646860..112646861 [GRCh38] Chr4:113568016..113568017 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.202+20_202+51del	deletion	not provided [RCV002760491]	Chr4:112644887..112644918 [GRCh38] Chr4:113566043..113566074 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.618T>C (p.Asn206=)	single nucleotide variant	not provided [RCV002690576]	Chr4:112647099 [GRCh38] Chr4:113568255 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.361G>C (p.Asp121His)	single nucleotide variant	not provided [RCV002796502]	Chr4:112646645 [GRCh38] Chr4:113567801 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.387+9A>G	single nucleotide variant	not provided [RCV003080902]	Chr4:112646680 [GRCh38] Chr4:113567836 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.950A>T (p.Gln317Leu)	single nucleotide variant	Inborn genetic diseases [RCV004068859]\|not provided [RCV002591507]	Chr4:112647502 [GRCh38] Chr4:113568658 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1415G>A (p.Arg472Gln)	single nucleotide variant	not provided [RCV002622261]	Chr4:112650581 [GRCh38] Chr4:113571737 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.597A>G (p.Ile199Met)	single nucleotide variant	Inborn genetic diseases [RCV003167699]\|not provided [RCV002736113]	Chr4:112647078 [GRCh38] Chr4:113568234 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.305T>A (p.Leu102His)	single nucleotide variant	not provided [RCV002622648]	Chr4:112646589 [GRCh38] Chr4:113567745 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.657AAAGAA[1] (p.Lys224_Lys225del)	microsatellite	not provided [RCV002786462]	Chr4:112647204..112647209 [GRCh38] Chr4:113568360..113568365 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.861A>G (p.Leu287=)	single nucleotide variant	not provided [RCV002663774]	Chr4:112647413 [GRCh38] Chr4:113568569 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1147G>C (p.Glu383Gln)	single nucleotide variant	Inborn genetic diseases [RCV002917145]	Chr4:112649539 [GRCh38] Chr4:113570695 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.995G>A (p.Arg332Lys)	single nucleotide variant	Inborn genetic diseases [RCV002788902]	Chr4:112647547 [GRCh38] Chr4:113568703 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.657_659del (p.Lys225del)	deletion	Inborn genetic diseases [RCV002699698]	Chr4:112647207..112647209 [GRCh38] Chr4:113568363..113568365 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.552+2dup	duplication	not provided [RCV002741156]	Chr4:112646956..112646957 [GRCh38] Chr4:113568112..113568113 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1716G>A (p.Ala572=)	single nucleotide variant	not provided [RCV002595401]	Chr4:112657294 [GRCh38] Chr4:113578450 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1392T>A (p.Pro464=)	single nucleotide variant	not provided [RCV002957418]	Chr4:112650558 [GRCh38] Chr4:113571714 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.318C>T (p.Gly106=)	single nucleotide variant	not provided [RCV002595626]	Chr4:112646602 [GRCh38] Chr4:113567758 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.388-5A>C	single nucleotide variant	not provided [RCV003003372]	Chr4:112646786 [GRCh38] Chr4:113567942 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.66del (p.Val23fs)	deletion	not provided [RCV002889971]	Chr4:112644734 [GRCh38] Chr4:113565890 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.226T>C (p.Ser76Pro)	single nucleotide variant	not provided [RCV002791186]	Chr4:112646374 [GRCh38] Chr4:113567530 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1642C>T (p.Arg548Trp)	single nucleotide variant	not provided [RCV002667411]	Chr4:112654133 [GRCh38] Chr4:113575289 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.203-13T>C	single nucleotide variant	not provided [RCV002932478]	Chr4:112646338 [GRCh38] Chr4:113567494 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1731A>T (p.Arg577Ser)	single nucleotide variant	Inborn genetic diseases [RCV003082581]\|not provided [RCV003082582]	Chr4:112657309 [GRCh38] Chr4:113578465 [GRCh37] Chr4:4q25	likely benign\|uncertain significance
NM_016648.4(LARP7):c.9T>C (p.Thr3=)	single nucleotide variant	not provided [RCV002876105]	Chr4:112644678 [GRCh38] Chr4:113565834 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.728C>A (p.Thr243Lys)	single nucleotide variant	not provided [RCV002595821]	Chr4:112647280 [GRCh38] Chr4:113568436 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1202C>T (p.Ser401Phe)	single nucleotide variant	Inborn genetic diseases [RCV002719918]	Chr4:112649594 [GRCh38] Chr4:113570750 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1077_1078del (p.His359fs)	deletion	LARP7-related disorder [RCV003418578]\|not provided [RCV002650663]	Chr4:112647768..112647769 [GRCh38] Chr4:113568924..113568925 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.387+6_387+7insA	insertion	not provided [RCV003088785]	Chr4:112646677..112646678 [GRCh38] Chr4:113567833..113567834 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.465T>C (p.Ser155=)	single nucleotide variant	not provided [RCV002597659]	Chr4:112646868 [GRCh38] Chr4:113568024 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.388-20T>G	single nucleotide variant	not provided [RCV002721220]	Chr4:112646771 [GRCh38] Chr4:113567927 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1576+16del	deletion	not provided [RCV002721208]	Chr4:112653252 [GRCh38] Chr4:113574408 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1064C>G (p.Thr355Arg)	single nucleotide variant	Inborn genetic diseases [RCV002836250]	Chr4:112647756 [GRCh38] Chr4:113568912 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1012A>G (p.Thr338Ala)	single nucleotide variant	Inborn genetic diseases [RCV002898142]	Chr4:112647704 [GRCh38] Chr4:113568860 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.363T>C (p.Asp121=)	single nucleotide variant	not provided [RCV002716394]	Chr4:112646647 [GRCh38] Chr4:113567803 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.313G>A (p.Glu105Lys)	single nucleotide variant	not provided [RCV002806170]	Chr4:112646597 [GRCh38] Chr4:113567753 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1669-17G>T	single nucleotide variant	not provided [RCV002600277]	Chr4:112657230 [GRCh38] Chr4:113578386 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.404A>T (p.Asn135Ile)	single nucleotide variant	not provided [RCV003044543]	Chr4:112646807 [GRCh38] Chr4:113567963 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1353C>T (p.Phe451=)	single nucleotide variant	not provided [RCV003089895]	Chr4:112650519 [GRCh38] Chr4:113571675 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1598_1599delinsTT (p.Trp533Phe)	indel	Inborn genetic diseases [RCV002792525]	Chr4:112654089..112654090 [GRCh38] Chr4:113575245..113575246 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.552G>C (p.Glu184Asp)	single nucleotide variant	not provided [RCV002632440]	Chr4:112646955 [GRCh38] Chr4:113568111 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1142+18A>C	single nucleotide variant	not provided [RCV002715420]	Chr4:112647852 [GRCh38] Chr4:113569008 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1576+16C>T	single nucleotide variant	not provided [RCV002604420]	Chr4:112653252 [GRCh38] Chr4:113574408 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.865G>A (p.Glu289Lys)	single nucleotide variant	not provided [RCV003049697]	Chr4:112647417 [GRCh38] Chr4:113568573 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.493C>G (p.Pro165Ala)	single nucleotide variant	Inborn genetic diseases [RCV002679937]	Chr4:112646896 [GRCh38] Chr4:113568052 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.973T>A (p.Ser325Thr)	single nucleotide variant	not provided [RCV002605121]	Chr4:112647525 [GRCh38] Chr4:113568681 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1079A>G (p.Lys360Arg)	single nucleotide variant	not provided [RCV002721542]	Chr4:112647771 [GRCh38] Chr4:113568927 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1227_1231del (p.Lys410fs)	deletion	not provided [RCV002605196]	Chr4:112649615..112649619 [GRCh38] Chr4:113570771..113570775 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1010_1011del (p.Ser337fs)	microsatellite	not provided [RCV002722069]	Chr4:112647699..112647700 [GRCh38] Chr4:113568855..113568856 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.871A>G (p.Arg291Gly)	single nucleotide variant	Inborn genetic diseases [RCV004068013]\|not provided [RCV002943413]	Chr4:112647423 [GRCh38] Chr4:113568579 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.387+16C>T	single nucleotide variant	not provided [RCV002609561]	Chr4:112646687 [GRCh38] Chr4:113567843 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.961dup (p.Ile321fs)	duplication	not provided [RCV003066126]	Chr4:112647512..112647513 [GRCh38] Chr4:113568668..113568669 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1563C>T (p.Leu521=)	single nucleotide variant	not provided [RCV002612989]	Chr4:112653223 [GRCh38] Chr4:113574379 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1068A>G (p.Lys356=)	single nucleotide variant	not provided [RCV002611006]	Chr4:112647760 [GRCh38] Chr4:113568916 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.818C>G (p.Ser273Ter)	single nucleotide variant	not provided [RCV003093034]	Chr4:112647370 [GRCh38] Chr4:113568526 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.388-7A>G	single nucleotide variant	not provided [RCV002589729]	Chr4:112646784 [GRCh38] Chr4:113567940 [GRCh37] Chr4:4q25	likely benign
NC_000004.12:g.110650730_112833790del	deletion	Axenfeld-Rieger syndrome type 1 [RCV003225703]	Chr4:110650730..112833790 [GRCh38] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.1642C>G (p.Arg548Gly)	single nucleotide variant	Inborn genetic diseases [RCV003195293]	Chr4:112654133 [GRCh38] Chr4:113575289 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.388-40G>A	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV003134043]	Chr4:112646751 [GRCh38] Chr4:113567907 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1730G>T (p.Arg577Ile)	single nucleotide variant	Inborn genetic diseases [RCV003281960]	Chr4:112657308 [GRCh38] Chr4:113578464 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.89G>A (p.Arg30Gln)	single nucleotide variant	Inborn genetic diseases [RCV003308482]	Chr4:112644758 [GRCh38] Chr4:113565914 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1025A>G (p.Lys342Arg)	single nucleotide variant	not provided [RCV003329837]	Chr4:112647717 [GRCh38] Chr4:113568873 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.518T>C (p.Phe173Ser)	single nucleotide variant	not provided [RCV003332762]	Chr4:112646921 [GRCh38] Chr4:113568077 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1308A>G (p.Glu436=)	single nucleotide variant	not provided [RCV003874417]	Chr4:112650474 [GRCh38] Chr4:113571630 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.925C>T (p.Arg309Ter)	single nucleotide variant	LARP7-related disorder [RCV003399882]	Chr4:112647477 [GRCh38] Chr4:113568633 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.57_59del (p.Lys21del)	deletion	not provided [RCV003738939]	Chr4:112644724..112644726 [GRCh38] Chr4:113565880..113565882 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.388-6_388-5del	microsatellite	not provided [RCV003578736]	Chr4:112646783..112646784 [GRCh38] Chr4:113567939..113567940 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.203-18del	deletion	not provided [RCV003692986]	Chr4:112646333 [GRCh38] Chr4:113567489 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.765A>G (p.Arg255=)	single nucleotide variant	not provided [RCV003545964]	Chr4:112647317 [GRCh38] Chr4:113568473 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.627dup (p.Pro210fs)	duplication	not provided [RCV003689180]	Chr4:112647106..112647107 [GRCh38] Chr4:113568262..113568263 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1669-12_1669-9del	microsatellite	not provided [RCV003852839]	Chr4:112657231..112657234 [GRCh38] Chr4:113578387..113578390 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1548A>G (p.Lys516=)	single nucleotide variant	not provided [RCV003833307]	Chr4:112653208 [GRCh38] Chr4:113574364 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.520G>T (p.Glu174Ter)	single nucleotide variant	not provided [RCV003580172]	Chr4:112646923 [GRCh38] Chr4:113568079 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1143-18C>A	single nucleotide variant	not provided [RCV003851093]	Chr4:112649517 [GRCh38] Chr4:113570673 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1173T>C (p.Tyr391=)	single nucleotide variant	not provided [RCV003835210]	Chr4:112649565 [GRCh38] Chr4:113570721 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1416+12G>A	single nucleotide variant	not provided [RCV003666886]	Chr4:112650594 [GRCh38] Chr4:113571750 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.268dup (p.Ile90fs)	duplication	not provided [RCV003856386]	Chr4:112646414..112646415 [GRCh38] Chr4:113567570..113567571 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.998-1G>A	single nucleotide variant	not provided [RCV003837871]	Chr4:112647689 [GRCh38] Chr4:113568845 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.983C>A (p.Ser328Tyr)	single nucleotide variant	not provided [RCV003579661]	Chr4:112647535 [GRCh38] Chr4:113568691 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1491del (p.Phe497fs)	deletion	not provided [RCV003854728]	Chr4:112653149 [GRCh38] Chr4:113574305 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1143-5T>C	single nucleotide variant	not provided [RCV003814953]	Chr4:112649530 [GRCh38] Chr4:113570686 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.649_651del (p.Glu217del)	deletion	not provided [RCV003717593]	Chr4:112647201..112647203 [GRCh38] Chr4:113568357..113568359 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1137A>G (p.Leu379=)	single nucleotide variant	not provided [RCV003728632]	Chr4:112647829 [GRCh38] Chr4:113568985 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1280T>C (p.Met427Thr)	single nucleotide variant	not provided [RCV003857379]	Chr4:112649672 [GRCh38] Chr4:113570828 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.203-19A>C	single nucleotide variant	not provided [RCV003818330]	Chr4:112646332 [GRCh38] Chr4:113567488 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1417-17A>G	single nucleotide variant	not provided [RCV003675844]	Chr4:112653060 [GRCh38] Chr4:113574216 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.840C>T (p.Asp280=)	single nucleotide variant	not provided [RCV003853269]	Chr4:112647392 [GRCh38] Chr4:113568548 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.501A>G (p.Gly167=)	single nucleotide variant	not provided [RCV003841030]	Chr4:112646904 [GRCh38] Chr4:113568060 [GRCh37] Chr4:4q25	likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	copy number gain	not specified [RCV003986496]	Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2	pathogenic
NM_016648.4(LARP7):c.552+7C>T	single nucleotide variant	not provided [RCV003870365]	Chr4:112646962 [GRCh38] Chr4:113568118 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.998-20G>C	single nucleotide variant	not provided [RCV003860280]	Chr4:112647670 [GRCh38] Chr4:113568826 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1140A>G (p.Ser380=)	single nucleotide variant	not provided [RCV003844209]	Chr4:112647832 [GRCh38] Chr4:113568988 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.492T>C (p.Asp164=)	single nucleotide variant	not provided [RCV003566716]	Chr4:112646895 [GRCh38] Chr4:113568051 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1179G>A (p.Ala393=)	single nucleotide variant	not provided [RCV003847169]	Chr4:112649571 [GRCh38] Chr4:113570727 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.552+7C>A	single nucleotide variant	not provided [RCV003846989]	Chr4:112646962 [GRCh38] Chr4:113568118 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.1025_1030dup (p.Asp343_Thr344insLysAsp)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV004515799]	Chr4:112647715..112647716 [GRCh38] Chr4:113568871..113568872 [GRCh37] Chr4:4q25	uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NM_016648.4(LARP7):c.1024_1025insGGATAA (p.Glu341_Lys342insArgIle)	insertion	Microcephalic primordial dwarfism, Alazami type [RCV004515798]	Chr4:112647714..112647715 [GRCh38] Chr4:113568870..113568871 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.*4A>G	single nucleotide variant	LARP7-related disorder [RCV003909827]	Chr4:112657331 [GRCh38] Chr4:113578487 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.414_415del (p.His138fs)	microsatellite	Microcephalic primordial dwarfism, Alazami type [RCV003990173]	Chr4:112646815..112646816 [GRCh38] Chr4:113567971..113567972 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1295-2A>G	single nucleotide variant	Microcephalic primordial dwarfism, Alazami type [RCV004526367]	Chr4:112650459 [GRCh38] Chr4:113571615 [GRCh37] Chr4:4q25	likely pathogenic
NM_016648.4(LARP7):c.731del (p.Ser244fs)	deletion	Microcephalic primordial dwarfism, Alazami type [RCV003989370]	Chr4:112647283 [GRCh38] Chr4:113568439 [GRCh37] Chr4:4q25	pathogenic\|likely pathogenic
NM_016648.4(LARP7):c.315A>G (p.Glu105=)	single nucleotide variant	LARP7-related disorder [RCV003976627]	Chr4:112646599 [GRCh38] Chr4:113567755 [GRCh37] Chr4:4q25	likely benign
NM_016648.4(LARP7):c.673_676del (p.Lys225fs)	deletion	not provided [RCV004590923]	Chr4:112647222..112647225 [GRCh38] Chr4:113568378..113568381 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.1270A>G (p.Asn424Asp)	single nucleotide variant	Inborn genetic diseases [RCV004410185]	Chr4:112649662 [GRCh38] Chr4:113570818 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1283A>G (p.Lys428Arg)	single nucleotide variant	Inborn genetic diseases [RCV004410186]	Chr4:112649675 [GRCh38] Chr4:113570831 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.355C>T (p.Pro119Ser)	single nucleotide variant	Inborn genetic diseases [RCV004410188]	Chr4:112646639 [GRCh38] Chr4:113567795 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.856A>G (p.Ser286Gly)	single nucleotide variant	Inborn genetic diseases [RCV004410190]	Chr4:112647408 [GRCh38] Chr4:113568564 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1062A>C (p.Lys354Asn)	single nucleotide variant	Inborn genetic diseases [RCV004410183]	Chr4:112647754 [GRCh38] Chr4:113568910 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.590C>T (p.Pro197Leu)	single nucleotide variant	Inborn genetic diseases [RCV004640072]	Chr4:112647071 [GRCh38] Chr4:113568227 [GRCh37] Chr4:4q25	uncertain significance
NC_000004.11:g.(?_113298934)_(114302627_?)dup	duplication	not provided [RCV004580818]	Chr4:113298934..114302627 [GRCh37] Chr4:4q25-26	uncertain significance
NM_016648.4(LARP7):c.1634_1637del (p.Asn545fs)	deletion	Inborn genetic diseases [RCV004640074]	Chr4:112654124..112654127 [GRCh38] Chr4:113575280..113575283 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1391C>T (p.Pro464Leu)	single nucleotide variant	Inborn genetic diseases [RCV004640076]	Chr4:112650557 [GRCh38] Chr4:113571713 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.595A>T (p.Ile199Leu)	single nucleotide variant	Inborn genetic diseases [RCV004633878]	Chr4:112647076 [GRCh38] Chr4:113568232 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1643G>A (p.Arg548Gln)	single nucleotide variant	Inborn genetic diseases [RCV004640075]	Chr4:112654134 [GRCh38] Chr4:113575290 [GRCh37] Chr4:4q25	uncertain significance
NM_016648.4(LARP7):c.1141_1142dup (p.Ser382fs)	duplication	Microcephalic primordial dwarfism, Alazami type [RCV004699925]	Chr4:112647831..112647832 [GRCh38] Chr4:113568987..113568988 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.420G>A (p.Trp140Ter)	single nucleotide variant	not provided [RCV004722022]	Chr4:112646823 [GRCh38] Chr4:113567979 [GRCh37] Chr4:4q25	pathogenic
NM_016648.4(LARP7):c.514G>A (p.Glu172Lys)	single nucleotide variant	not provided [RCV004764017]		uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2085
Count of miRNA genes:	814
Interacting mature miRNAs:	936
Transcripts:	ENST00000324052, ENST00000344442, ENST00000503316, ENST00000503898, ENST00000504079, ENST00000505034, ENST00000505216, ENST00000507443, ENST00000508577, ENST00000509061, ENST00000509622, ENST00000511529, ENST00000512361, ENST00000512589, ENST00000513553
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

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
1643256	BW127_H	Body Weight QTL 127 (human)	1.31	0.007	Body weight	body mass index	4	106319694	132319694	Human
407414061	GWAS1063037_H	body height QTL GWAS1063037 (human)		4e-08	body height (VT:0001253)	body height (CMO:0000106)	4	112647388	112647389	Human
407387342	GWAS1036318_H	interleukin 16 measurement QTL GWAS1036318 (human)		0.0000007	interleukin 16 measurement		4	112649483	112649484	Human
407219115	GWAS868091_H	thyroid carcinoma QTL GWAS868091 (human)		0.0000006	thyroid carcinoma		4	112649292	112649293	Human

Markers in Region

SHGC-35945

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	113,578,441 - 113,578,548	UniSTS	GRCh37
Build 36	4	113,797,890 - 113,797,997	RGD	NCBI36
Celera	4	110,872,534 - 110,872,641	RGD
Cytogenetic Map	4	q25	UniSTS
HuRef	4	109,306,861 - 109,306,968	UniSTS
TNG Radiation Hybrid Map	4	27369.0	UniSTS
GeneMap99-G3 RH Map	4	6467.0	UniSTS

HDCMA18P_9741

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	113,578,412 - 113,578,940	UniSTS	GRCh37
Build 36	4	113,797,861 - 113,798,389	RGD	NCBI36
Celera	4	110,872,505 - 110,873,033	RGD
HuRef	4	109,306,832 - 109,307,360	UniSTS

G33497

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	4	q25	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_032779	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001267039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370974	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370977	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016648	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047415771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC106864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF068284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI652351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC066945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC107709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM979591	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX647100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA314598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN346208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB270203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU667388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT585094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000324052 ⟹ ENSP00000314311

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,456 - 112,657,592 (+)	Ensembl

Ensembl Acc Id:

ENST00000344442 ⟹ ENSP00000344950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,143 - 112,657,586 (+)	Ensembl

Ensembl Acc Id:

ENST00000503316

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,646,890 - 112,647,338 (+)	Ensembl

Ensembl Acc Id:

ENST00000503898

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,655,363 - 112,657,592 (+)	Ensembl

Ensembl Acc Id:

ENST00000504079

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,193 - 112,638,020 (+)	Ensembl

Ensembl Acc Id:

ENST00000505034 ⟹ ENSP00000421541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,456 - 112,657,592 (+)	Ensembl

Ensembl Acc Id:

ENST00000505216 ⟹ ENSP00000424116

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,525 - 112,657,695 (+)	Ensembl

Ensembl Acc Id:

ENST00000507443 ⟹ ENSP00000421963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,644,304 - 112,646,671 (+)	Ensembl

Ensembl Acc Id:

ENST00000508577 ⟹ ENSP00000426646

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,165 - 112,646,642 (+)	Ensembl

Ensembl Acc Id:

ENST00000509061 ⟹ ENSP00000422626

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,126 - 112,657,586 (+)	Ensembl

Ensembl Acc Id:

ENST00000509622 ⟹ ENSP00000422451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,127 - 112,657,586 (+)	Ensembl

Ensembl Acc Id:

ENST00000511529 ⟹ ENSP00000426376

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,153 - 112,657,407 (+)	Ensembl

Ensembl Acc Id:

ENST00000512361

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,133 - 112,654,981 (+)	Ensembl

Ensembl Acc Id:

ENST00000512589 ⟹ ENSP00000426709

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,107 - 112,657,440 (+)	Ensembl

Ensembl Acc Id:

ENST00000513553 ⟹ ENSP00000422013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,181 - 112,653,123 (+)	Ensembl

Ensembl Acc Id:

ENST00000651579 ⟹ ENSP00000499190

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,570 - 112,657,562 (+)	Ensembl

Ensembl Acc Id:

ENST00000684864 ⟹ ENSP00000509993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,522 - 112,657,547 (+)	Ensembl

Ensembl Acc Id:

ENST00000685424

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,652,307 - 112,657,696 (+)	Ensembl

Ensembl Acc Id:

ENST00000685716

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,648,953 - 112,657,567 (+)	Ensembl

Ensembl Acc Id:

ENST00000688617

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,645,875 - 112,657,562 (+)	Ensembl

Ensembl Acc Id:

ENST00000689262

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,525 - 112,650,322 (+)	Ensembl

Ensembl Acc Id:

ENST00000689844 ⟹ ENSP00000509899

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,133 - 112,657,563 (+)	Ensembl

Ensembl Acc Id:

ENST00000690008 ⟹ ENSP00000508938

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,110 - 112,654,987 (+)	Ensembl

Ensembl Acc Id:

ENST00000692075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,077 - 112,657,533 (+)	Ensembl

Ensembl Acc Id:

ENST00000692168

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,518 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000692416 ⟹ ENSP00000509527

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,147 - 112,657,562 (+)	Ensembl

Ensembl Acc Id:

ENST00000693375 ⟹ ENSP00000508585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,522 - 112,657,562 (+)	Ensembl

Ensembl Acc Id:

ENST00000693442 ⟹ ENSP00000509975

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,522 - 112,657,280 (+)	Ensembl

Ensembl Acc Id:

ENST00000694891 ⟹ ENSP00000511571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,120 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000694892

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,499 - 112,647,227 (+)	Ensembl

Ensembl Acc Id:

ENST00000694893

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,513 - 112,646,988 (+)	Ensembl

Ensembl Acc Id:

ENST00000694894 ⟹ ENSP00000511572

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,518 - 112,657,565 (+)	Ensembl

Ensembl Acc Id:

ENST00000694895 ⟹ ENSP00000511573

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,522 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000694896 ⟹ ENSP00000511574

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,525 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000694897 ⟹ ENSP00000511575

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,525 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000694898 ⟹ ENSP00000511576

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,525 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000694899 ⟹ ENSP00000511577

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,525 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000694900 ⟹ ENSP00000511578

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,637,525 - 112,657,560 (+)	Ensembl

Ensembl Acc Id:

ENST00000694901 ⟹ ENSP00000511579

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,638,269 - 112,657,562 (+)	Ensembl

Ensembl Acc Id:

ENST00000694902

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	112,645,628 - 112,646,948 (+)	Ensembl

RefSeq Acc Id:

NM_001267039 ⟹ NP_001253968

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI
GRCh37	4	113,558,120 - 113,578,748 (+)	NCBI
HuRef	4	109,286,524 - 109,307,168 (+)	NCBI
CHM1_1	4	113,534,600 - 113,555,241 (+)	NCBI
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

Sequence:

show sequence

ATCCTATGACGCGAAAGTAACCGAGACTATCAGGATCCGGAGACGGAAATGTCCGAAGGCCGCA
GTACTTGACCCTGTATTTTGGGAGTCGAACGGAGACTCTGCCATCGTCCTCAAAGAGTAAAAAA
TCCAGTTACGGAAGGGAACTAACACTTGCTAGATATGGTGTGCAGAGTGCGTTTGCAAAGAAAC
TTAAGAGAAAACAAATGATAGGACACAGGGTGGTGGAAGATCTCAAAGAGATAATCTGGCCCTG
TGTTTTAAAAGGTACAAAGAAACTAAAGCTATGATCCCTAACATAGAAGGAATGGAAACTGAAA
GTGGAAATCAGGAAAAGGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAA
GAAACGGTCACGAGTTAAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGG
GATGCAAATCTTCACAAGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATG
TTGATATATCACTACTTGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAAT
TGCCAGAGCATTGAGAAGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGG
AAAAAACCTCTGGGGGAAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTC
CCAAAAATGTTAATCACAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATAT
AAGTATACCACATTATAAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACA
AAAGAACAAGCAGCAAAAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAAC
CTGGCATATTTCCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAAGAGAA
GAAAAAGAAAAAGAAGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAA
AACATGGACACAAGCAACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCT
CTGACATTGAGTCCACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGT
TGAAGCATCTAGCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCA
GAATCCCTAGCTCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCAT
CAGAAGCTTCCAAGGAAAATAGAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGA
TCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACAT
AAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGAGCGAATGGATGGATTTGAAAA
AAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATCCCAAATAAA
ATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACCTCAAAACACTGGAATGAAAAATGAAAAA
ACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAAGTTAATGCAACAGGACCACAGTTCGTGA
GTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCGGGATAC
TTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGCCATGCT
AGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACAAGAAAC
ACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAAGATTTTGGT
TGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAGTTAATCACC
AAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTTCTGAAT
ATGATTGAAAAAAAAAACAGTTCACCTCTTAATACTTCACAAGATACTTGAGCTGTTCTTGGGA
GATTCACTTTTATTATGGTAGCACTGCATAATTAATGTGTTTTTAATTAAAAGAAATATCTTTG
TTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGACAAATATGATGTATACCACAATTTTTCTT
AAACATTTTATTTGTTGAAATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAATAAATGTGT
TTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370974 ⟹ NP_001357903

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

Sequence:

show sequence

ATCCTATGACGCGAAAGTAACCGAGACTATCAGGATCCGGAGACGGAAATGTCCGAAGGCCGCA
GTACTTGACCCTGTATTTTGGGAGTCGAACGGAGAATGGAAACTGAAAGTGGAAATCAGGAAAA
GGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCACGAGTT
AAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCTTCACA
AGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCACTACT
TGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCATTGAGA
AGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGG
AAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTTAATCA
CAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCACATTAT
AAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGCAGCAA
AAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTTCCTAA
AACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAAGAGAAGAAAAAGAAAAAGAAG
AAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAGCA
ACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCCAC
TGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTA
CCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCC
GATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGA
AAATAGAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTACT
GAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATA
AGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAA
GAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTTCTTTA
AAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACCTCAAA
ACACTGGAATGAAAAATGAAAAAACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAAGTTAA
TGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTCTACCT
GGCAGGAAACAAGTCCGGGATACTTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTTGCTAG
AAGGGGATACAGAATGCCATGCTAGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATAAATGC
CTATACAGAAATTAACAAGAAACACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACGAACAA
AGGTATTGGCAGAAGATTTTGGTTGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAAGAAAA
GAGGCACTGAAAAGTTAATCACCAAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCGAG
TAAACATATAAGATTTTCTGAATATGATTGAAAAAAAAAACAGTTCACCTCTTAATACTTCACA
AGATACTTGAGCTGTTCTTGGGAGATTCACTTTTATTATGGTAGCACTGCATAATTAATGTGTT
TTTAATTAAAAGAAATATCTTTGTTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGACAAATA
TGATGTATACCACAATTTTTCTTAAACATTTTATTTGTTGAAATTATCTTAGATGTCAGTGTCA
GGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370975 ⟹ NP_001357904

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,502 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,841 - 115,965,926 (+)	NCBI

Sequence:

show sequence

GTCCTTGCGGAAGTACGGGTGCCGAGAGAAGCAGTAGTCAATAAAGAGAGTGCCGTATTTCGCA
GATTGGAGCTGAGCTGTGGCTGCCAGAAGATAGCGAACGAATGGAAACTGAAAGTGGAAATCAG
GAAAAGGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCAC
GAGTTAAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCT
TCACAAGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCA
CTACTTGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCAT
TGAGAAGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCT
GGGGGAAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTT
AATCACAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCAC
ATTATAAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGC
AGCAAAAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTT
CCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAAGAGAAGAAAAAGAAAA
AGAAGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACAC
AAGCAACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAG
TCCACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTA
GCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGC
TCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCC
AAGGAAAATAGAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCT
CTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAA
ACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTA
TCAAAGAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTT
CTTTAAAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACC
TCAAAACACTGGAATGAAAAATGAAAAAACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAA
GTTAATGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTC
TACCTGGCAGGAAACAAGTCCGGGATACTTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTT
GCTAGAAGGGGATACAGAATGCCATGCTAGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATA
AATGCCTATACAGAAATTAACAAGAAACACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACG
AACAAAGGTATTGGCAGAAGATTTTGGTTGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAA
GAAAAGAGGCACTGAAAAGTTAATCACCAAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAA
GCGAGTAAACATATAAGATTTTCTGAATATGATTGAAAAAAAAAACAGTTCACCTCTTAATACT
TCACAAGATACTTGAGCTGTTCTTGGGAGATTCACTTTTATTATGGTAGCACTGCATAATTAAT
GTGTTTTTAATTAAAAGAAATATCTTTGTTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGAC
AAATATGATGTATACCACAATTTTTCTTAAACATTTTATTTGTTGAAATTATCTTAGATGTCAG
TGTCAGGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370976 ⟹ NP_001357905

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

Sequence:

show sequence

ATCCTATGACGCGAAAGTAACCGAGACTATCAGGATCCGGAGACGGAAATGTCCGAAGGCCGCA
GTACTTGACCCTGTATTTTGGGAGTCGAACGGAGAATGGAAACTGAAAGTGGAAATCAGGAAAA
GGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCACGAGTT
AAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCTTCACA
AGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCACTACT
TGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCATTGAGA
AGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGG
AAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTTAATCA
CAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCACATTAT
AAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGCAGCAA
AAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTTCCTAA
AACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAGAAGAAAAAGAAAAAGAAGAAG
AAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAGCAACA
CCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCCACTGA
ACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTACCT
GAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCCGAT
CAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGAAAA
TAGAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTACTGAA
GAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGA
AAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGAG
CGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTTCTTTAAAA
AAAACAATATCCCAAATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACCTCAAAACA
CTGGAATGAAAAATGAAAAAACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAAGTTAATGC
AACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTCTACCTGGC
AGGAAACAAGTCCGGGATACTTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTTGCTAGAAG
GGGATACAGAATGCCATGCTAGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATAAATGCCTA
TACAGAAATTAACAAGAAACACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACGAACAAAGG
TATTGGCAGAAGATTTTGGTTGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAAGAAAAGAG
GCACTGAAAAGTTAATCACCAAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCGAGTAA
ACATATAAGATTTTCTGAATATGATTGAAAAAAAAAACAGTTCACCTCTTAATACTTCACAAGA
TACTTGAGCTGTTCTTGGGAGATTCACTTTTATTATGGTAGCACTGCATAATTAATGTGTTTTT
AATTAAAAGAAATATCTTTGTTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGACAAATATGA
TGTATACCACAATTTTTCTTAAACATTTTATTTGTTGAAATTATCTTAGATGTCAGTGTCAGGT
GATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370977 ⟹ NP_001357906

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,502 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,841 - 115,965,926 (+)	NCBI

Sequence:

show sequence

GTCCTTGCGGAAGTACGGGTGCCGAGAGAAGCAGTAGTCAATAAAGAGAGTGCCGTATTTCGCA
GATTGGAGCTGAGCTGTGGCTGCCAGAAGATAGCGAACGAATGGAAACTGAAAGTGGAAATCAG
GAAAAGGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCAC
GAGTTAAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCT
TCACAAGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCA
CTACTTGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCAT
TGAGAAGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCT
GGGGGAAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTT
AATCACAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCAC
ATTATAAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGC
AGCAAAAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTT
CCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAGAAGAAAAAGAAAAAGA
AGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAG
CAACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCC
ACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCT
TACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCC
CCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAG
GAAAATAGAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTA
CTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACA
TAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCA
AAGAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTTCTT
TAAAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACCTCA
AAACACTGGAATGAAAAATGAAAAAACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAAGTT
AATGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTCTAC
CTGGCAGGAAACAAGTCCGGGATACTTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTTGCT
AGAAGGGGATACAGAATGCCATGCTAGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATAAAT
GCCTATACAGAAATTAACAAGAAACACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACGAAC
AAAGGTATTGGCAGAAGATTTTGGTTGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAAGAA
AAGAGGCACTGAAAAGTTAATCACCAAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCG
AGTAAACATATAAGATTTTCTGAATATGATTGAAAAAAAAAACAGTTCACCTCTTAATACTTCA
CAAGATACTTGAGCTGTTCTTGGGAGATTCACTTTTATTATGGTAGCACTGCATAATTAATGTG
TTTTTAATTAAAAGAAATATCTTTGTTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGACAAA
TATGATGTATACCACAATTTTTCTTAAACATTTTATTTGTTGAAATTATCTTAGATGTCAGTGT
CAGGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370978 ⟹ NP_001357907

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,502 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,841 - 115,965,926 (+)	NCBI

Sequence:

show sequence

GTCCTTGCGGAAGTACGGGTGCCGAGAGAAGCAGTAGTCAATAAAGAGAGTGCCGTATTTCGCA
GATTGGAGCTGAGCTGTGGCTGCCAGAAGATAGCGAACTCAAGCACCACATACCGACAGACCGC
ATGTATGACAGTGGTCCCATAAGATTATAGGAATGGAAACTGAAAGTGGAAATCAGGAAAAGGT
AATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCACGAGTTAAA
CAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCTTCACAAGG
ATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCACTACTTGT
GTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCATTGAGAAGT
TCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGGAAA
GACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTTAATCACAG
CTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCACATTATAAG
TCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGCAGCAAAAG
CAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTTCCTAAAAC
AGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAAGAGAAGAAAAAGAAAAAGAAGAAG
AAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAGCAACA
CCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCCACTGA
ACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTACCT
GAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCCGAT
CAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGAAAA
TAGAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTC
TTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTA
TACCATTAAGAGTGCTATCAAAGAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCTACA
AAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAATGGAA
ACAGACAGTGGAGTACCTCAAAACACTGGAATGAAAAATGAAAAAACAGCCAACAGGGAAGAGT
GTCGCACCCAGGAGAAAGTTAATGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAAGAT
CATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCGGGATACTTTGGCAGCAATCTCAGAA
GTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGCCATGCTAGATTTAAAACTCCTGAGG
ATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACAAGAAACACTGCTGGAAACTCGAGAT
CCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAAGATTTTGGTTGATAGACAGGCAAAACTT
AATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAGTTAATCACCAAAGCTGAAAAGATTAGAC
TGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTTCTGAATATGATTGAAAAAAAAAACA
GTTCACCTCTTAATACTTCACAAGATACTTGAGCTGTTCTTGGGAGATTCACTTTTATTATGGT
AGCACTGCATAATTAATGTGTTTTTAATTAAAAGAAATATCTTTGTTCCTCAACTTGTAAATAA
GACTTTTTTCTAGAGACAAATATGATGTATACCACAATTTTTCTTAAACATTTTATTTGTTGAA
ATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370979 ⟹ NP_001357908

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

Sequence:

show sequence

ATCCTATGACGCGAAAGTAACCGAGACTATCAGGATCCGGAGACGGAAATGTCCGAAGGCCGCA
GTACTTGACCCTGTATTTTGGGAGTCGAACGGAGAATGGAAACTGAAAGTGGAAATCAGGAAAA
GGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCACGAGTT
AAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCTTCACA
AGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCACTACT
TGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCATTGAGA
AGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGG
AAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTTAATCA
CAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCACATTAT
AAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGCAGCAA
AAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTTCCTAA
AACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAGAAGAAAAAGAAAAAGAAGAAG
AAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAGCAACA
CCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCCACTGA
ACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTACCT
GAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCCGAT
CAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGAAAA
TAGAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTC
TTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTA
TACCATTAAGAGTGCTATCAAAGAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCTACA
AAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAATGGAA
ACAGACAGTGGAGTACCTCAAAACACTGGAATGAAAAATGAAAAAACAGCCAACAGGGAAGAGT
GTCGCACCCAGGAGAAAGTTAATGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAAGAT
CATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCGGGATACTTTGGCAGCAATCTCAGAA
GTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGCCATGCTAGATTTAAAACTCCTGAGG
ATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACAAGAAACACTGCTGGAAACTCGAGAT
CCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAAGATTTTGGTTGATAGACAGGCAAAACTT
AATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAGTTAATCACCAAAGCTGAAAAGATTAGAC
TGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTTCTGAATATGATTGAAAAAAAAAACA
GTTCACCTCTTAATACTTCACAAGATACTTGAGCTGTTCTTGGGAGATTCACTTTTATTATGGT
AGCACTGCATAATTAATGTGTTTTTAATTAAAAGAAATATCTTTGTTCCTCAACTTGTAAATAA
GACTTTTTTCTAGAGACAAATATGATGTATACCACAATTTTTCTTAAACATTTTATTTGTTGAA
ATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370980 ⟹ NP_001357909

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,502 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,841 - 115,965,926 (+)	NCBI

Sequence:

show sequence

GTCCTTGCGGAAGTACGGGTGCCGAGAGAAGCAGTAGTCAATAAAGAGAGTGCCGTATTTCGCA
GATTGGAGCTGAGCTGTGGCTGCCAGAAGATAGCGAACGAATGGAAACTGAAAGTGGAAATCAG
GAAAAGGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCAC
GAGTTAAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCT
TCACAAGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCA
CTACTTGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCAT
TGAGAAGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCT
GGGGGAAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTT
AATCACAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCAC
ATTATAAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGC
AGCAAAAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTT
CCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAGAAGAAAAAGAAAAAGA
AGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAG
CAACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCC
ACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCT
TACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCC
CCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAG
GAAAATAGAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCT
CTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGA
AGTTATACCATTAAGAGTGCTATCAAAGAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCG
CTACAAAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAA
TGGAAACAGACAGTGGAGTACCTCAAAACACTGGAATGAAAAATGAAAAAACAGCCAACAGGGA
AGAGTGTCGCACCCAGGAGAAAGTTAATGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTG
AAGATCATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCGGGATACTTTGGCAGCAATCT
CAGAAGTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGCCATGCTAGATTTAAAACTCC
TGAGGATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACAAGAAACACTGCTGGAAACTC
GAGATCCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAAGATTTTGGTTGATAGACAGGCAA
AACTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAGTTAATCACCAAAGCTGAAAAGAT
TAGACTGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTTCTGAATATGATTGAAAAAAA
AAACAGTTCACCTCTTAATACTTCACAAGATACTTGAGCTGTTCTTGGGAGATTCACTTTTATT
ATGGTAGCACTGCATAATTAATGTGTTTTTAATTAAAAGAAATATCTTTGTTCCTCAACTTGTA
AATAAGACTTTTTTCTAGAGACAAATATGATGTATACCACAATTTTTCTTAAACATTTTATTTG
TTGAAATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370981 ⟹ NP_001357910

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,502 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,841 - 115,965,926 (+)	NCBI

Sequence:

show sequence

GTCCTTGCGGAAGTACGGGTGCCGAGAGAAGCAGTAGTCAATAAAGAGAGTGCCGTATTTCGCA
GATTGGAGCTGAGCTGTGGCTGCCAGAAGATAGCGAACGAATGGAAACTGAAAGTGGAAATCAG
GAAAAGGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCAC
GAGTTAAACAGATGTTGATATATCACTACTTGTGTCTTTTAACAAAATGAAAAAATTGACTACT
GATGGGAAGTTAATTGCCAGAGCATTGAGAAGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCA
CCAGAATCCGGAGGAAAAAACCTCTGGGGGAAAGACCAAAGGATGAGGATGAACGCACAGTGTA
TGTGGAGTTACTTCCCAAAAATGTTAATCACAGCTGGATTGAAAGAGTATTTGGGAAATGTGGC
AATGTTGTTTATATAAGTATACCACATTATAAGTCTACTGGAGATCCAAAGGGATTTGCGTTTG
TGGAATTTGAAACAAAAGAACAAGCAGCAAAAGCAATTGAGTTTCTTAACAACCCACCAGAAGA
AGCACCAAGAAAACCTGGCATATTTCCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGA
GTTGTGGAAGAGAAGAAAAAGAAAAAGAAGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCC
AAGCCAAAGAAGAAAACATGGACACAAGCAACACCAGCATCAGTAAAATGAAAAGATCCAGACC
CACATCTGAGGGCTCTGACATTGAGTCCACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAA
AAACGGGACAGAGTTGAAGCATCTAGCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCA
GCTCTGAAGATGCAGAATCCCTAGCTCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACAT
CATTAAGGAAGCATCAGAAGCTTCCAAGGAAAATAGAGATATAGAAATCTCTACTGAAGAGGAA
AAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAAC
ATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGAGCGAATG
GATGGATTTGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTTCTTTAAAAAAAACA
ATATCCCAAATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACCTCAAAACACTGGAA
TGAAAAATGAAAAAACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAAGTTAATGCAACAGG
ACCACAGTTCGTGAGTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTCTACCTGGCAGGAAA
CAAGTCCGGGATACTTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTTGCTAGAAGGGGATA
CAGAATGCCATGCTAGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATAAATGCCTATACAGA
AATTAACAAGAAACACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACGAACAAAGGTATTGG
CAGAAGATTTTGGTTGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTG
AAAAGTTAATCACCAAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCGAGTAAACATAT
AAGATTTTCTGAATATGATTGAAAAAAAAAACAGTTCACCTCTTAATACTTCACAAGATACTTG
AGCTGTTCTTGGGAGATTCACTTTTATTATGGTAGCACTGCATAATTAATGTGTTTTTAATTAA
AAGAAATATCTTTGTTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGACAAATATGATGTATA
CCACAATTTTTCTTAAACATTTTATTTGTTGAAATTATCTTAGATGTCAGTGTCAGGTGATTTA
GTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_001370982 ⟹ NP_001357911

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

Sequence:

show sequence

ATCCTATGACGCGAAAGTAACCGAGACTATCAGGATCCGGAGACGGAAATGTCCGAAGGCCGCA
GTACTTGACCCTGTATTTTGGGAGTCGAACGGAGAATGGAAACTGAAAGTGGAAATCAGGAAAA
GGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCACGAGTT
AAACAGATGTTGATATATCACTACTTGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGG
GAAGTTAATTGCCAGAGCATTGAGAAGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGA
ATCCGGAGGAAAAAACCTCTGGGGGAAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGG
AGTTACTTCCCAAAAATGTTAATCACAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGT
TGTTTATATAAGTATACCACATTATAAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAA
TTTGAAACAAAAGAACAAGCAGCAAAAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCAC
CAAGAAAACCTGGCATATTTCCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGT
GGAAGAGAAGAAAAAGAAAAAGAAGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCC
AAAGAAGAAAACATGGACACAAGCAACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACAT
CTGAGGGCTCTGACATTGAGTCCACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACG
GGACAGAGTTGAAGCATCTAGCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCT
GAAGATGCAGAATCCCTAGCTCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTA
AGGAAGCATCAGAAGCTTCCAAGGAAAATAGAGATATAGAAATCTCTACTGAAGAGGAAAAGGA
TACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAA
GAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGAGCGAATGGATGG
ATTTGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATC
CCAAATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACCTCAAAACACTGGAATGAAA
AATGAAAAAACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAAGTTAATGCAACAGGACCAC
AGTTCGTGAGTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGT
CCGGGATACTTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAA
TGCCATGCTAGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATAAATGCCTATACAGAAATTA
ACAAGAAACACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAA
GATTTTGGTTGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAG
TTAATCACCAAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCGAGTAAACATATAAGAT
TTTCTGAATATGATTGAAAAAAAAAACAGTTCACCTCTTAATACTTCACAAGATACTTGAGCTG
TTCTTGGGAGATTCACTTTTATTATGGTAGCACTGCATAATTAATGTGTTTTTAATTAAAAGAA
ATATCTTTGTTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGACAAATATGATGTATACCACA
ATTTTTCTTAAACATTTTATTTGTTGAAATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAA
TAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_015454 ⟹ NP_056269

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,502 - 112,657,586 (+)	NCBI
GRCh37	4	113,558,120 - 113,578,748 (+)	NCBI
Build 36	4	113,778,061 - 113,798,191 (+)	NCBI Archive
Celera	4	110,852,197 - 110,872,835 (+)	RGD
HuRef	4	109,286,524 - 109,307,168 (+)	NCBI
CHM1_1	4	113,535,092 - 113,555,241 (+)	NCBI
T2T-CHM13v2.0	4	115,945,841 - 115,965,926 (+)	NCBI

Sequence:

show sequence

GTCCTTGCGGAAGTACGGGTGCCGAGAGAAGCAGTAGTCAATAAAGAGAGTGCCGTATTTCGCA
GATTGGAGCTGAGCTGTGGCTGCCAGAAGATAGCGAACGAATGGAAACTGAAAGTGGAAATCAG
GAAAAGGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCAC
GAGTTAAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCT
TCACAAGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCA
CTACTTGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCAT
TGAGAAGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCT
GGGGGAAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTT
AATCACAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCAC
ATTATAAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGC
AGCAAAAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTT
CCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAAGAGAAGAAAAAGAAAA
AGAAGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACAC
AAGCAACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAG
TCCACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTA
GCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGC
TCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCC
AAGGAAAATAGAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATA
GCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGA
AGAAGTTATACCATTAAGAGTGCTATCAAAGAGCGAATGGATGGATTTGAAAAAAGAGTATTTA
GCGCTACAAAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATCCCAAATAAAATCAGAGTCAG
AAATGGAAACAGACAGTGGAGTACCTCAAAACACTGGAATGAAAAATGAAAAAACAGCCAACAG
GGAAGAGTGTCGCACCCAGGAGAAAGTTAATGCAACAGGACCACAGTTCGTGAGTGGAGTGATT
GTGAAGATCATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCGGGATACTTTGGCAGCAA
TCTCAGAAGTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGCCATGCTAGATTTAAAAC
TCCTGAGGATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACAAGAAACACTGCTGGAAA
CTCGAGATCCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAAGATTTTGGTTGATAGACAGG
CAAAACTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAGTTAATCACCAAAGCTGAAAA
GATTAGACTGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTTCTGAATATGATTGAAAA
AAAAAACAGTTCACCTCTTAATACTTCACAAGATACTTGAGCTGTTCTTGGGAGATTCACTTTT
ATTATGGTAGCACTGCATAATTAATGTGTTTTTAATTAAAAGAAATATCTTTGTTCCTCAACTT
GTAAATAAGACTTTTTTCTAGAGACAAATATGATGTATACCACAATTTTTCTTAAACATTTTAT
TTGTTGAAATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

NM_016648 ⟹ NP_057732

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI
GRCh37	4	113,558,120 - 113,578,748 (+)	NCBI
Build 36	4	113,777,569 - 113,798,191 (+)	NCBI Archive
Celera	4	110,852,197 - 110,872,835 (+)	RGD
HuRef	4	109,286,524 - 109,307,168 (+)	NCBI
CHM1_1	4	113,534,600 - 113,555,241 (+)	NCBI
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

Sequence:

show sequence

ATCCTATGACGCGAAAGTAACCGAGACTATCAGGATCCGGAGACGGAAATGTCCGAAGGCCGCA
GTACTTGACCCTGTATTTTGGGAGTCGAACGGAGAATGGAAACTGAAAGTGGAAATCAGGAAAA
GGTAATGGAAGAAGAAAGCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCACGAGTT
AAACAGGTGCTTGCAGATATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCTTCACA
AGGATAGATTTCTTCGAGAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCACTACT
TGTGTCTTTTAACAAAATGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCATTGAGA
AGTTCAGCTGTTGTAGAGCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGG
AAAGACCAAAGGATGAGGATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTTAATCA
CAGCTGGATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCACATTAT
AAGTCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGCAGCAA
AAGCAATTGAGTTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTTCCTAA
AACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGGAAGAGAAGAAAAAGAAAAAGAAG
AAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAGCA
ACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCCAC
TGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTA
CCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCC
GATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGA
AAATAGAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCT
CTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAG
TTATACCATTAAGAGTGCTATCAAAGAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCT
ACAAAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAATG
GAAACAGACAGTGGAGTACCTCAAAACACTGGAATGAAAAATGAAAAAACAGCCAACAGGGAAG
AGTGTCGCACCCAGGAGAAAGTTAATGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAA
GATCATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCGGGATACTTTGGCAGCAATCTCA
GAAGTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGCCATGCTAGATTTAAAACTCCTG
AGGATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACAAGAAACACTGCTGGAAACTCGA
GATCCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAAGATTTTGGTTGATAGACAGGCAAAA
CTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAGTTAATCACCAAAGCTGAAAAGATTA
GACTGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTTCTGAATATGATTGAAAAAAAAA
ACAGTTCACCTCTTAATACTTCACAAGATACTTGAGCTGTTCTTGGGAGATTCACTTTTATTAT
GGTAGCACTGCATAATTAATGTGTTTTTAATTAAAAGAAATATCTTTGTTCCTCAACTTGTAAA
TAAGACTTTTTTCTAGAGACAAATATGATGTATACCACAATTTTTCTTAAACATTTTATTTGTT
GAAATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAATAAATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

XM_024454083 ⟹ XP_024309851

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI

Sequence:

show sequence

CGCGAAAGTAACCGAGACTATCAGGATCCGGAGACGGAAATGTCCGAAGGCCGCAGTACTTGAC
CCTGTATTTTGGGAGTCGAACGGATCAAGCACCACATACCGACAGACCGCATGTATGACAGTGG
TCCCATAAGATTATAGGAATGGAAACTGAAAGTGGAAATCAGGAAAAGGTAATGGAAGAAGAAA
GCACTGAAAAGAAAAAAGAAGTTGAAAAAAAGAAACGGTCACGAGTTAAACAGGTGCTTGCAGA
TATTGCTAAGCAAGTGGACTTCTGGTTTGGGGATGCAAATCTTCACAAGGATAGATTTCTTCGA
GAACAGATAGAAAAATCTAGAGATGGATATGTTGATATATCACTACTTGTGTCTTTTAACAAAA
TGAAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCATTGAGAAGTTCAGCTGTTGTAGA
GCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGGAAAGACCAAAGGATGAG
GATGAACGCACAGTGTATGTGGAGTTACTTCCCAAAAATGTTAATCACAGCTGGATTGAAAGAG
TATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCACATTATAAGTCTACTGGAGATCC
AAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGCAGCAAAAGCAATTGAGTTTCTT
AACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTTCCTAAAACAGTGAAAAATAAGC
CCATTCCAGCCTTAAGAGTTGTGGAAGAGAAGAAAAAGAAAAAGAAGAAGAAAGGCCGAATGAA
AAAGGAAGACAATATCCAAGCCAAAGAAGAAAACATGGACACAAGCAACACCAGCATCAGTAAA
ATGAAAAGATCCAGACCCACATCTGAGGGCTCTGACATTGAGTCCACTGAACCCCAAAAGCAGT
GCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTACCTGAAGTCAGAACAGG
GAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCCGATCAAAAGTAAAGAAA
ATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGAAAATAGAGCCCCATGTC
TTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTACTGAAGAGGAAAAGGATAC
TGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAG
AGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGAGCGAATGGATGGATT
TGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCTTCTTTAAAAAAAACAATATCCCA
AATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGAGTACCTCAAAACACTGGAATGAAAAAT
GAAAAAACAGCCAACAGGGAAGAGTGTCGCACCCAGGAGAAAGTTAATGCAACAGGACCACAGT
TCGTGAGTGGAGTGATTGTGAAGATCATTAGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCG
GGATACTTTGGCAGCAATCTCAGAAGTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGC
CATGCTAGATTTAAAACTCCTGAGGATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACA
AGAAACACTGCTGGAAACTCGAGATCCTTTCTGGTGATCACGAACAAAGGTATTGGCAGAAGAT
TTTGGTTGATAGACAGGCAAAACTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAGTTA
ATCACCAAAGCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTT
CTGAATATGATTGAAAAAAAAAACAGTTCACCTCTTAATACTTCACAAGATACTTGAGCTGTTC
TTGGGAGATTCACTTTTATTATGGTAGCACTGCATAATTAATGTGTTTTTAATTAAAAGAAATA
TCTTTGTTCCTCAACTTGTAAATAAGACTTTTTTCTAGAGACAAATATGATGTATACCACAATT
TTTCTTAAACATTTTATTTGTTGAAATTATCTTAGATGTCAGTGTCAGGTGATTTAGTAAATAA
ATGTGTTTTGAACATTA

hide sequence

RefSeq Acc Id:

XM_047415768 ⟹ XP_047271724

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,502 - 112,657,586 (+)	NCBI

RefSeq Acc Id:

XM_047415769 ⟹ XP_047271725

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI

RefSeq Acc Id:

XM_047415770 ⟹ XP_047271726

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI

RefSeq Acc Id:

XM_047415771 ⟹ XP_047271727

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,143 - 112,657,586 (+)	NCBI

RefSeq Acc Id:

XM_054350162 ⟹ XP_054206137

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

RefSeq Acc Id:

XM_054350163 ⟹ XP_054206138

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	115,945,841 - 115,965,926 (+)	NCBI

RefSeq Acc Id:

XM_054350164 ⟹ XP_054206139

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

RefSeq Acc Id:

XM_054350165 ⟹ XP_054206140

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

RefSeq Acc Id:

XM_054350166 ⟹ XP_054206141

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	115,945,482 - 115,965,926 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001253968	(Get FASTA)	NCBI Sequence Viewer
	NP_001357903	(Get FASTA)	NCBI Sequence Viewer
	NP_001357904	(Get FASTA)	NCBI Sequence Viewer
	NP_001357905	(Get FASTA)	NCBI Sequence Viewer
	NP_001357906	(Get FASTA)	NCBI Sequence Viewer
	NP_001357907	(Get FASTA)	NCBI Sequence Viewer
	NP_001357908	(Get FASTA)	NCBI Sequence Viewer
	NP_001357909	(Get FASTA)	NCBI Sequence Viewer
	NP_001357910	(Get FASTA)	NCBI Sequence Viewer
	NP_001357911	(Get FASTA)	NCBI Sequence Viewer
	NP_056269	(Get FASTA)	NCBI Sequence Viewer
	NP_057732	(Get FASTA)	NCBI Sequence Viewer
	XP_024309851	(Get FASTA)	NCBI Sequence Viewer
	XP_047271724	(Get FASTA)	NCBI Sequence Viewer
	XP_047271725	(Get FASTA)	NCBI Sequence Viewer
	XP_047271726	(Get FASTA)	NCBI Sequence Viewer
	XP_047271727	(Get FASTA)	NCBI Sequence Viewer
	XP_054206137	(Get FASTA)	NCBI Sequence Viewer
	XP_054206138	(Get FASTA)	NCBI Sequence Viewer
	XP_054206139	(Get FASTA)	NCBI Sequence Viewer
	XP_054206140	(Get FASTA)	NCBI Sequence Viewer
	XP_054206141	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF65503	(Get FASTA)	NCBI Sequence Viewer
	AAH06981	(Get FASTA)	NCBI Sequence Viewer
	AAH66945	(Get FASTA)	NCBI Sequence Viewer
	AAI07710	(Get FASTA)	NCBI Sequence Viewer
	ACD13786	(Get FASTA)	NCBI Sequence Viewer
	CAB43230	(Get FASTA)	NCBI Sequence Viewer
	EAX06282	(Get FASTA)	NCBI Sequence Viewer
	EAX06283	(Get FASTA)	NCBI Sequence Viewer
	EAX06284	(Get FASTA)	NCBI Sequence Viewer
	EAX06285	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000344950
	ENSP00000344950.5
	ENSP00000421541
	ENSP00000421541.1
	ENSP00000421541.2
	ENSP00000422013.1
	ENSP00000422451.1
	ENSP00000422626
	ENSP00000422626.2
	ENSP00000424116.1
	ENSP00000426376
	ENSP00000426376.2
	ENSP00000426646.1
	ENSP00000426709.1
	ENSP00000499190
	ENSP00000499190.1
	ENSP00000508585
	ENSP00000508585.1
	ENSP00000508938.1
	ENSP00000509527
	ENSP00000509527.1
	ENSP00000509899.1
	ENSP00000509975.1
	ENSP00000509993.1
	ENSP00000511571
	ENSP00000511571.1
	ENSP00000511572.1
	ENSP00000511573.1
	ENSP00000511574.1
	ENSP00000511575.1
	ENSP00000511576
	ENSP00000511576.1
	ENSP00000511577
	ENSP00000511577.1
	ENSP00000511578.1
	ENSP00000511579.1
GenBank Protein	Q4G0J3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_057732 ⟸ NM_016648
- Peptide Label:	isoform 1
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), A0A8Q3SHF1 (UniProtKB/TrEMBL)
- Sequence:	show sequence METESGNQEKVMEEESTEKKKEVEKKKRSRVKQVLADIAKQVDFWFGDANLHKDRFLREQIEKS RDGYVDISLLVSFNKMKKLTTDGKLIARALRSSAVVELDLEGTRIRRKKPLGERPKDEDERTVY VELLPKNVNHSWIERVFGKCGNVVYISIPHYKSTGDPKGFAFVEFETKEQAAKAIEFLNNPPEE APRKPGIFPKTVKNKPIPALRVVEEKKKKKKKKGRMKKEDNIQAKEENMDTSNTSISKMKRSRP TSEGSDIESTEPQKQCSKKKKKRDRVEASSLPEVRTGKRKRSSSEDAESLAPRSKVKKIIQKDI IKEASEASKENRDIEISTEEEKDTGDLKDSSLLKTKRKHKKKHKERHKMGEEVIPLRVLSKSEW MDLKKEYLALQKASMASLKKTISQIKSESEMETDSGVPQNTGMKNEKTANREECRTQEKVNATG PQFVSGVIVKIISTEPLPGRKQVRDTLAAISEVLYVDLLEGDTECHARFKTPEDAQAVINAYTE INKKHCWKLEILSGDHEQRYWQKILVDRQAKLNQPREKKRGTEKLITKAEKIRLAKTQQASKHI RFSEYD hide sequence

RefSeq Acc Id:	NP_056269 ⟸ NM_015454
- Peptide Label:	isoform 1
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), A0A8Q3SHF1 (UniProtKB/TrEMBL)
- Sequence:	show sequence METESGNQEKVMEEESTEKKKEVEKKKRSRVKQVLADIAKQVDFWFGDANLHKDRFLREQIEKS RDGYVDISLLVSFNKMKKLTTDGKLIARALRSSAVVELDLEGTRIRRKKPLGERPKDEDERTVY VELLPKNVNHSWIERVFGKCGNVVYISIPHYKSTGDPKGFAFVEFETKEQAAKAIEFLNNPPEE APRKPGIFPKTVKNKPIPALRVVEEKKKKKKKKGRMKKEDNIQAKEENMDTSNTSISKMKRSRP TSEGSDIESTEPQKQCSKKKKKRDRVEASSLPEVRTGKRKRSSSEDAESLAPRSKVKKIIQKDI IKEASEASKENRDIEISTEEEKDTGDLKDSSLLKTKRKHKKKHKERHKMGEEVIPLRVLSKSEW MDLKKEYLALQKASMASLKKTISQIKSESEMETDSGVPQNTGMKNEKTANREECRTQEKVNATG PQFVSGVIVKIISTEPLPGRKQVRDTLAAISEVLYVDLLEGDTECHARFKTPEDAQAVINAYTE INKKHCWKLEILSGDHEQRYWQKILVDRQAKLNQPREKKRGTEKLITKAEKIRLAKTQQASKHI RFSEYD hide sequence

RefSeq Acc Id:	NP_001253968 ⟸ NM_001267039
- Peptide Label:	isoform 1
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot), A0A8Q3SHF1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MIPNIEGMETESGNQEKVMEEESTEKKKEVEKKKRSRVKQVLADIAKQVDFWFGDANLHKDRFL REQIEKSRDGYVDISLLVSFNKMKKLTTDGKLIARALRSSAVVELDLEGTRIRRKKPLGERPKD EDERTVYVELLPKNVNHSWIERVFGKCGNVVYISIPHYKSTGDPKGFAFVEFETKEQAAKAIEF LNNPPEEAPRKPGIFPKTVKNKPIPALRVVEEKKKKKKKKGRMKKEDNIQAKEENMDTSNTSIS KMKRSRPTSEGSDIESTEPQKQCSKKKKKRDRVEASSLPEVRTGKRKRSSSEDAESLAPRSKVK KIIQKDIIKEASEASKENRDIEISTEEEKDTGDLKDSSLLKTKRKHKKKHKERHKMGEEVIPLR VLSKSEWMDLKKEYLALQKASMASLKKTISQIKSESEMETDSGVPQNTGMKNEKTANREECRTQ EKVNATGPQFVSGVIVKIISTEPLPGRKQVRDTLAAISEVLYVDLLEGDTECHARFKTPEDAQA VINAYTEINKKHCWKLEILSGDHEQRYWQKILVDRQAKLNQPREKKRGTEKLITKAEKIRLAKT QQASKHIRFSEYD hide sequence

RefSeq Acc Id:	XP_024309851 ⟸ XM_024454083
- Peptide Label:	isoform X1
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL), A0A8Q3SHG9 (UniProtKB/TrEMBL)
- Sequence:	show sequence METESGNQEKVMEEESTEKKKEVEKKKRSRVKQVLADIAKQVDFWFGDANLHKDRFLREQIEKS RDGYVDISLLVSFNKMKKLTTDGKLIARALRSSAVVELDLEGTRIRRKKPLGERPKDEDERTVY VELLPKNVNHSWIERVFGKCGNVVYISIPHYKSTGDPKGFAFVEFETKEQAAKAIEFLNNPPEE APRKPGIFPKTVKNKPIPALRVVEEKKKKKKKKGRMKKEDNIQAKEENMDTSNTSISKMKRSRP TSEGSDIESTEPQKQCSKKKKKRDRVEASSLPEVRTGKRKRSSSEDAESLAPRSKVKKIIQKDI IKEASEASKENRAPCLNGELFYLFQDIEISTEEEKDTGDLKDSSLLKTKRKHKKKHKERHKMGE EVIPLRVLSKSEWMDLKKEYLALQKASMASLKKTISQIKSESEMETDSGVPQNTGMKNEKTANR EECRTQEKVNATGPQFVSGVIVKIISTEPLPGRKQVRDTLAAISEVLYVDLLEGDTECHARFKT PEDAQAVINAYTEINKKHCWKLEILSGDHEQRYWQKILVDRQAKLNQPREKKRGTEKLITKAEK IRLAKTQQASKHIRFSEYD hide sequence

RefSeq Acc Id:	NP_001357903 ⟸ NM_001370974
- Peptide Label:	isoform 3
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL), A0A8Q3SHG9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357905 ⟸ NM_001370976
- Peptide Label:	isoform 4
- UniProtKB:	H0YA82 (UniProtKB/TrEMBL), A0A8Q3SHG9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357908 ⟸ NM_001370979
- Peptide Label:	isoform 5
- UniProtKB:	A0A8Q3SHH4 (UniProtKB/TrEMBL), A0A8Q3SHF1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357911 ⟸ NM_001370982
- Peptide Label:	isoform 6
- UniProtKB:	A0A8I5KUI4 (UniProtKB/TrEMBL), A0A8Q3SHF1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357907 ⟸ NM_001370978
- Peptide Label:	isoform 1
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot), A0A8Q3SHF1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357904 ⟸ NM_001370975
- Peptide Label:	isoform 3
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL), A0A8Q3SHG9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357906 ⟸ NM_001370977
- Peptide Label:	isoform 4
- UniProtKB:	H0YA82 (UniProtKB/TrEMBL), A0A8Q3SHG9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357909 ⟸ NM_001370980
- Peptide Label:	isoform 5
- UniProtKB:	A0A8Q3SHH4 (UniProtKB/TrEMBL), A0A8Q3SHF1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001357910 ⟸ NM_001370981
- Peptide Label:	isoform 6
- UniProtKB:	A0A8I5KUI4 (UniProtKB/TrEMBL), A0A8Q3SHF1 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000424116 ⟸ ENST00000505216

Ensembl Acc Id:

ENSP00000421541 ⟸ ENST00000505034

Ensembl Acc Id:

ENSP00000421963 ⟸ ENST00000507443

Ensembl Acc Id:

ENSP00000499190 ⟸ ENST00000651579

Ensembl Acc Id:

ENSP00000426646 ⟸ ENST00000508577

Ensembl Acc Id:

ENSP00000422626 ⟸ ENST00000509061

Ensembl Acc Id:

ENSP00000422451 ⟸ ENST00000509622

Ensembl Acc Id:

ENSP00000314311 ⟸ ENST00000324052

Ensembl Acc Id:

ENSP00000426376 ⟸ ENST00000511529

Ensembl Acc Id:

ENSP00000426709 ⟸ ENST00000512589

Ensembl Acc Id:

ENSP00000422013 ⟸ ENST00000513553

Ensembl Acc Id:

ENSP00000344950 ⟸ ENST00000344442

Ensembl Acc Id:

ENSP00000508585 ⟸ ENST00000693375

Ensembl Acc Id:

ENSP00000509993 ⟸ ENST00000684864

Ensembl Acc Id:

ENSP00000508938 ⟸ ENST00000690008

Ensembl Acc Id:

ENSP00000509527 ⟸ ENST00000692416

Ensembl Acc Id:

ENSP00000509975 ⟸ ENST00000693442

Ensembl Acc Id:

ENSP00000509899 ⟸ ENST00000689844

Ensembl Acc Id:

ENSP00000511576 ⟸ ENST00000694898

Ensembl Acc Id:

ENSP00000511574 ⟸ ENST00000694896

Ensembl Acc Id:

ENSP00000511571 ⟸ ENST00000694891

Ensembl Acc Id:

ENSP00000511578 ⟸ ENST00000694900

Ensembl Acc Id:

ENSP00000511573 ⟸ ENST00000694895

Ensembl Acc Id:

ENSP00000511575 ⟸ ENST00000694897

Ensembl Acc Id:

ENSP00000511577 ⟸ ENST00000694899

Ensembl Acc Id:

ENSP00000511572 ⟸ ENST00000694894

Ensembl Acc Id:

ENSP00000511579 ⟸ ENST00000694901

RefSeq Acc Id:	XP_047271725 ⟸ XM_047415769
- Peptide Label:	isoform X1
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047271727 ⟸ XM_047415771
- Peptide Label:	isoform X2
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047271726 ⟸ XM_047415770
- Peptide Label:	isoform X2
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047271724 ⟸ XM_047415768
- Peptide Label:	isoform X1
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054206139 ⟸ XM_054350164
- Peptide Label:	isoform X1
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054206141 ⟸ XM_054350166
- Peptide Label:	isoform X2
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206137 ⟸ XM_054350162
- Peptide Label:	isoform X1
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054206140 ⟸ XM_054350165
- Peptide Label:	isoform X2
- UniProtKB:	Q9P1S7 (UniProtKB/Swiss-Prot), Q4G0J3 (UniProtKB/Swiss-Prot), Q3B7A9 (UniProtKB/Swiss-Prot), B2ZHN6 (UniProtKB/Swiss-Prot), Q9Y3Z8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206138 ⟸ XM_054350163
- Peptide Label:	isoform X1
- UniProtKB:	A0A8Q3SHN7 (UniProtKB/TrEMBL)

Protein Domains

HTH La-type RNA-binding RRM XRRM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q4G0J3-F1-model_v2	AlphaFold	Q4G0J3	1-582	view protein structure

Promoters

RGD ID:

6868302

Promoter ID:

EPDNEW_H7316

Type:

initiation region

Name:

LARP7_1

Description:

La ribonucleoprotein domain family member 7

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7318

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,171 - 112,637,231	EPDNEW

RGD ID:

6868306

Promoter ID:

EPDNEW_H7318

Type:

initiation region

Name:

LARP7_2

Description:

La ribonucleoprotein domain family member 7

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7316

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	112,637,525 - 112,637,585	EPDNEW

RGD ID:

6802172

Promoter ID:

HG_KWN:48938

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_015454, NM_016648, UC003IAZ.1, UC003IBA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	113,777,346 - 113,778,102 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24912	AgrOrtholog
COSMIC	LARP7	COSMIC
Ensembl Genes	ENSG00000174720	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000344442	ENTREZGENE
	ENST00000344442.10	UniProtKB/Swiss-Prot
	ENST00000505034	ENTREZGENE
	ENST00000505034.5	UniProtKB/TrEMBL
	ENST00000505034.6	UniProtKB/Swiss-Prot
	ENST00000505216.2	UniProtKB/TrEMBL
	ENST00000508577.5	UniProtKB/TrEMBL
	ENST00000509061	ENTREZGENE
	ENST00000509061.5	UniProtKB/Swiss-Prot
	ENST00000509622.5	UniProtKB/TrEMBL
	ENST00000511529	ENTREZGENE
	ENST00000511529.2	UniProtKB/TrEMBL
	ENST00000512589.6	UniProtKB/TrEMBL
	ENST00000513553.5	UniProtKB/TrEMBL
	ENST00000651579	ENTREZGENE
	ENST00000651579.1	UniProtKB/Swiss-Prot
	ENST00000684864.1	UniProtKB/TrEMBL
	ENST00000689844.1	UniProtKB/TrEMBL
	ENST00000690008.1	UniProtKB/TrEMBL
	ENST00000692416	ENTREZGENE
	ENST00000692416.1	UniProtKB/TrEMBL
	ENST00000693375	ENTREZGENE
	ENST00000693375.1	UniProtKB/TrEMBL
	ENST00000693442.1	UniProtKB/TrEMBL
	ENST00000694891	ENTREZGENE
	ENST00000694891.1	UniProtKB/TrEMBL
	ENST00000694894.1	UniProtKB/Swiss-Prot
	ENST00000694895.1	UniProtKB/TrEMBL
	ENST00000694896.1	UniProtKB/TrEMBL
	ENST00000694897.1	UniProtKB/TrEMBL
	ENST00000694898	ENTREZGENE
	ENST00000694898.1	UniProtKB/TrEMBL
	ENST00000694899	ENTREZGENE
	ENST00000694899.1	UniProtKB/TrEMBL
	ENST00000694900.1	UniProtKB/TrEMBL
	ENST00000694901.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.70.330	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000174720	GTEx
HGNC ID	HGNC:24912	ENTREZGENE
Human Proteome Map	LARP7	Human Proteome Map
InterPro	La_dom_prot	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	La_HTH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	La_RRM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LARP7_La	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LARP7_RRM1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LARP7_RRM2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Lupus_La	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Nucleotide-bd_a/b_plait_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RBD_domain_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RRM_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH-like_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51574	UniProtKB/Swiss-Prot
NCBI Gene	51574	ENTREZGENE
OMIM	612026	OMIM
PANTHER	LA-RELATED PROTEIN 7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR22792	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PF05383	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RRM_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RRM_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA145148525	PharmGKB
PRINTS	LUPUSLA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	HTH_LA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RRM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	XRRM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	RRM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00715	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46785	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF54928	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A8I5KQG7_HUMAN	UniProtKB/TrEMBL
	A0A8I5KSZ3_HUMAN	UniProtKB/TrEMBL
	A0A8I5KUI4	ENTREZGENE, UniProtKB/TrEMBL
	A0A8I5KYN2_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHF1	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3SHG9	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3SHH4	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3SHL6_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHN7	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3WK75_HUMAN	UniProtKB/TrEMBL
	B2ZHN6	ENTREZGENE
	D6R9Z6_HUMAN	UniProtKB/TrEMBL
	D6RBH8_HUMAN	UniProtKB/TrEMBL
	D6RF22_HUMAN	UniProtKB/TrEMBL
	D6RF49_HUMAN	UniProtKB/TrEMBL
	D6RFF0_HUMAN	UniProtKB/TrEMBL
	H0YA82	ENTREZGENE, UniProtKB/TrEMBL
	LARP7_HUMAN	UniProtKB/Swiss-Prot
	Q3B7A9	ENTREZGENE
	Q4G0J3	ENTREZGENE
	Q96IZ8_HUMAN	UniProtKB/TrEMBL
	Q9P1S7	ENTREZGENE
	Q9Y3Z8	ENTREZGENE
UniProt Secondary	B2ZHN6	UniProtKB/Swiss-Prot
	Q3B7A9	UniProtKB/Swiss-Prot
	Q9P1S7	UniProtKB/Swiss-Prot
	Q9Y3Z8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-09-03	LARP7	La ribonucleoprotein 7, transcriptional regulator	LARP7	La ribonucleoprotein domain family member 7	Symbol and/or name change	5135510	APPROVED
2015-11-24	LARP7	La ribonucleoprotein domain family member 7		La ribonucleoprotein domain family, member 7	Symbol and/or name change	5135510	APPROVED
2012-05-29	LARP7	La ribonucleoprotein domain family, member 7	LARP7	La ribonucleoprotein domain family, member 7	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Human Phenotype Annotations - HPO

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