HELT (helt bHLH transcription factor)

Gene: HELT (helt bHLH transcription factor) Homo sapiens

Analyze

Symbol:

HELT

Name:

helt bHLH transcription factor

RGD ID:

2292703

HGNC Page

HGNC:33783

Description:

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification; regulation of neurogenesis; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Predicted to be part of chromatin. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bHLHb44; hairy and enhancer of split-related protein HELT; HCM1228; HES-like; Hes-like transcription factor; HES/HEY-like transcription factor; HESL; Heslike; Hey-like transcription factor; Hey-like transcriptional repressor; Megane bHLH factor; Mgn

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Helt (helt bHLH transcription factor)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Helt (helt bHLH transcription factor)	RGD	RGD
Chinchilla lanigera (long-tailed chinchilla):	Helt (helt bHLH transcription factor)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HELT (helt bHLH transcription factor)	NCBI	Ortholog
Canis lupus familiaris (dog):	HELT (helt bHLH transcription factor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Helt (helt bHLH transcription factor)	NCBI	Ortholog
Sus scrofa (pig):	HELT (helt bHLH transcription factor)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	HELT (helt bHLH transcription factor)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Helt (helt bHLH transcription factor)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Sirpb2 (signal-regulatory protein beta 2)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Helt (helt bHLH transcription factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Helt (helt bHLH transcription factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	helt (helt bHLH transcription factor)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	cwo	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	helt	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	helt.L	Alliance	DIOPT (Xenbase)

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	185,018,490 - 185,020,953 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	185,018,490 - 185,020,953 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	185,939,644 - 185,942,107 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	186,177,077 - 186,178,920 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	183,267,003 - 183,268,846 (+)	NCBI		Celera
Cytogenetic Map	4	q35.1	NCBI
HuRef	4	181,693,384 - 181,695,227 (+)	NCBI		HuRef
CHM1_1	4	185,916,557 - 185,918,400 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	188,361,903 - 188,364,366 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

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

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

CGP 52608 (EXP)

Cuprizon (ISO)

fenvalerate (ISO)

fulvestrant (EXP)

resveratrol (EXP)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anterior/posterior pattern specification (IBA)

central nervous system development (IEA,ISO)

GABAergic neuron differentiation (IEA,ISO)

GABAergic neuron differentiation in basal ganglia (IEA,ISO)

gene expression (IEA,ISO)

multicellular organism growth (IEA,ISO)

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

positive regulation of transcription by RNA polymerase II (IEA,ISO)

post-embryonic development (IEA,ISO)

regulation of DNA-templated transcription (IEA)

regulation of neurogenesis (IBA)

regulation of transcription by RNA polymerase II (IBA)

suckling behavior (IEA,ISO)

transcription by RNA polymerase II (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleus (IBA,IEA)

transcription regulator complex (IEA)

Molecular Function

DNA binding (IEA)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IEA)

identical protein binding (IEA)

protein binding (IPI)

protein dimerization activity (IEA)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IEA)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:14764602	PMID:15071116	PMID:15375612	PMID:15489334	PMID:15815621	PMID:16644143	PMID:17611227	PMID:19274049	PMID:20508642	PMID:21873635	PMID:26582913
PMID:32296183	PMID:33306668	PMID:33961781

Genomics

Comparative Map Data

HELT
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	185,018,490 - 185,020,953 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	185,018,490 - 185,020,953 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	185,939,644 - 185,942,107 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	186,177,077 - 186,178,920 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	183,267,003 - 183,268,846 (+)	NCBI		Celera
Cytogenetic Map	4	q35.1	NCBI
HuRef	4	181,693,384 - 181,695,227 (+)	NCBI		HuRef
CHM1_1	4	185,916,557 - 185,918,400 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	188,361,903 - 188,364,366 (+)	NCBI		T2T-CHM13v2.0

Helt
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	46,745,080 - 46,747,785 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	46,745,076 - 46,747,708 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	46,292,043 - 46,294,748 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	46,292,039 - 46,294,671 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	47,377,401 - 47,380,025 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	47,790,864 - 47,793,488 (-)	NCBI		MGSCv36	mm8
Celera	8	48,973,821 - 48,976,445 (-)	NCBI		Celera
Cytogenetic Map	8	B1.1	NCBI
cM Map	8	26.32	NCBI

Helt
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	52,723,828 - 52,725,610 (+)	NCBI		GRCr8
mRatBN7.2	16	45,991,227 - 45,993,045 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	45,991,227 - 45,992,960 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	16	49,185,560 - 49,187,293 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	49,185,560 - 49,187,293 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	48,897,557 - 48,899,320 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	49,271,310 - 49,273,233 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	16	43,990,135 - 43,991,868 (+)	NCBI		Celera
Cytogenetic Map	16	q11	NCBI

Helt
(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_004955403	23,996,488 - 23,998,290 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	23,996,488 - 23,998,290 (-)	NCBI	ChiLan1.0	ChiLan1.0

HELT
(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	182,755,377 - 182,757,964 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	183,103,808 - 183,106,395 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	177,183,619 - 177,186,099 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	189,404,960 - 189,406,918 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	189,405,042 - 189,406,886 (+)	Ensembl	panpan1.1		panPan2

HELT
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	45,564,986 - 45,567,225 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	45,565,131 - 45,566,884 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	46,052,470 - 46,054,710 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	47,781,611 - 47,783,852 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	16	47,781,595 - 47,783,564 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	16	45,748,432 - 45,750,671 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	16	46,362,009 - 46,364,254 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	16	46,494,214 - 46,496,455 (-)	NCBI		UU_Cfam_GSD_1.0

Helt
(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_024404943	33,861,934 - 33,864,392 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936554	4,245,648 - 4,247,700 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936554	4,245,684 - 4,247,832 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HELT
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	46,087,696 - 46,090,084 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	46,087,988 - 46,089,986 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

HELT
(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	130,982,298 - 130,988,696 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	130,985,304 - 130,987,148 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	111,243,420 - 111,245,377 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Helt
(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_004624769	15,852,025 - 15,856,041 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624769	15,851,432 - 15,854,088 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HELT
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	copy number loss	See cases [RCV000050324]	Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	copy number loss	See cases [RCV000050771]	Chr4:173599911..188624331 [GRCh38] Chr4:174521062..189545485 [GRCh37] Chr4:174757637..189782479 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	copy number gain	See cases [RCV000050649]	Chr4:162013220..189975519 [GRCh38] Chr4:162934372..190828225 [GRCh37] Chr4:163153822..191133668 [NCBI36] Chr4:4q32.2-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	copy number loss	See cases [RCV000050665]	Chr4:183528264..188624331 [GRCh38] Chr4:184449417..189545485 [GRCh37] Chr4:184686411..189782479 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	copy number loss	See cases [RCV000051215]	Chr4:175483683..189975519 [GRCh38] Chr4:176404834..190828225 [GRCh37] Chr4:176641828..191133668 [NCBI36] Chr4:4q34.2-35.2	pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	copy number gain	See cases [RCV000051785]	Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2	pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	copy number gain	See cases [RCV000051786]	Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2	pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]\|See cases [RCV000051789]	Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]\|See cases [RCV000051792]	Chr4:167218288..189975519 [GRCh38] Chr4:168139439..190828225 [GRCh37] Chr4:168376014..191133668 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	copy number gain	See cases [RCV000051804]	Chr4:172200228..189975519 [GRCh38] Chr4:173121379..190828225 [GRCh37] Chr4:173357954..191133668 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	copy number gain	See cases [RCV000051805]	Chr4:179946068..189548183 [GRCh38] Chr4:180867221..190469337 [GRCh37] Chr4:181104215..190706331 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	copy number gain	See cases [RCV000051806]	Chr4:182990639..186013514 [GRCh38] Chr4:183911792..186934668 [GRCh37] Chr4:184148786..187171662 [NCBI36] Chr4:4q35.1	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	copy number loss	See cases [RCV000053353]	Chr4:173754675..189343295 [GRCh38] Chr4:174675826..190264449 [GRCh37] Chr4:174912401..190501443 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]\|See cases [RCV000053325]	Chr4:158568335..189975660 [GRCh38] Chr4:159489487..190828225 [GRCh37] Chr4:159708937..191133809 [NCBI36] Chr4:4q32.1-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]\|See cases [RCV000053327]	Chr4:163651681..189975519 [GRCh38] Chr4:164572833..190828225 [GRCh37] Chr4:164792283..191133668 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	copy number loss	See cases [RCV000053347]	Chr4:164039530..189982708 [GRCh38] Chr4:164960682..190828225 [GRCh37] Chr4:165180132..191140857 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	copy number loss	See cases [RCV000053349]	Chr4:171507704..189869726 [GRCh38] Chr4:172428855..190790881 [GRCh37] Chr4:172665430..191027875 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	copy number loss	See cases [RCV000053352]	Chr4:172356988..189975519 [GRCh38] Chr4:173278139..190828225 [GRCh37] Chr4:173514714..191133668 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]\|See cases [RCV000053377]	Chr4:181455566..189975660 [GRCh38] Chr4:182376719..190828225 [GRCh37] Chr4:182613713..191133809 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	copy number loss	See cases [RCV000053378]	Chr4:183354112..190042639 [GRCh38] Chr4:184275265..190828225 [GRCh37] Chr4:184512259..191200788 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]\|See cases [RCV000053373]	Chr4:176263514..189975519 [GRCh38] Chr4:177184665..190828225 [GRCh37] Chr4:177421659..191133668 [NCBI36] Chr4:4q34.2-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	copy number loss	See cases [RCV000053374]	Chr4:177442769..190042639 [GRCh38] Chr4:178363923..190828225 [GRCh37] Chr4:178600917..191200788 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1	copy number loss	See cases [RCV000053375]	Chr4:179669472..189975660 [GRCh38] Chr4:180590625..190828225 [GRCh37] Chr4:180827619..191133809 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]\|See cases [RCV000053376]	Chr4:179945868..189975660 [GRCh38] Chr4:180867021..190828225 [GRCh37] Chr4:181104015..191133809 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	copy number gain	See cases [RCV000133708]	Chr4:184327081..189975519 [GRCh38] Chr4:185248234..190828225 [GRCh37] Chr4:185485228..191133668 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	copy number loss	See cases [RCV000133709]	Chr4:184327081..189975519 [GRCh38] Chr4:185248234..190896674 [GRCh37] Chr4:185485228..191133668 [NCBI36] Chr4:4q35.1-35.2	likely pathogenic\|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	copy number gain	See cases [RCV000134158]	Chr4:184406972..188915538 [GRCh38] Chr4:185328126..189836692 [GRCh37] Chr4:185565120..190073686 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	copy number loss	See cases [RCV000134276]	Chr4:182437091..190018185 [GRCh38] Chr4:183358244..190939340 [GRCh37] Chr4:183595238..191176334 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	copy number gain	See cases [RCV000135845]	Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	copy number gain	See cases [RCV000135693]	Chr4:180451652..190095391 [GRCh38] Chr4:181372805..190828225 [GRCh37] Chr4:181609799..191250527 [NCBI36] Chr4:4q34.3-35.2	likely pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	copy number loss	See cases [RCV000136115]	Chr4:173854560..189548183 [GRCh38] Chr4:174775711..190469337 [GRCh37] Chr4:175012286..190706331 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	copy number loss	See cases [RCV000136942]	Chr4:184239531..189975519 [GRCh38] Chr4:185160684..190828225 [GRCh37] Chr4:185397678..191133668 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	copy number loss	See cases [RCV000137101]	Chr4:177985956..189975519 [GRCh38] Chr4:178907110..190828225 [GRCh37] Chr4:179144104..191133668 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	copy number gain	See cases [RCV000136810]	Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	copy number loss	See cases [RCV000137532]	Chr4:166317587..190095391 [GRCh38] Chr4:167238739..190828225 [GRCh37] Chr4:167458189..191250527 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	copy number loss	See cases [RCV000137343]	Chr4:178014570..190095391 [GRCh38] Chr4:178935724..190828225 [GRCh37] Chr4:179172718..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	copy number loss	See cases [RCV000137345]	Chr4:180574962..190095391 [GRCh38] Chr4:181496115..190828225 [GRCh37] Chr4:181733109..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	copy number loss	See cases [RCV000137262]	Chr4:178549472..190095391 [GRCh38] Chr4:179470626..190828225 [GRCh37] Chr4:179707620..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3	copy number gain	See cases [RCV000137905]	Chr4:184573059..185237739 [GRCh38] Chr4:185494213..186158893 [GRCh37] Chr4:185731207..186395887 [NCBI36] Chr4:4q35.1	uncertain significance
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	copy number gain	See cases [RCV000137721]	Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2	pathogenic\|likely benign
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1	copy number loss	See cases [RCV000137925]	Chr4:174150183..188259055 [GRCh38] Chr4:175071334..189180209 [GRCh37] Chr4:175307909..189417203 [NCBI36] Chr4:4q34.1-35.2	likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	copy number loss	See cases [RCV000138668]	Chr4:183072743..190095391 [GRCh38] Chr4:183993896..190828225 [GRCh37] Chr4:184230890..191250527 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	copy number gain	See cases [RCV000138578]	Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1	pathogenic\|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	copy number gain	See cases [RCV000138540]	Chr4:169901205..190095391 [GRCh38] Chr4:170822356..190828225 [GRCh37] Chr4:171058931..191250527 [NCBI36] Chr4:4q33-35.2	uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	copy number loss	See cases [RCV000140396]	Chr4:169873508..190018185 [GRCh38] Chr4:170794659..190939340 [GRCh37] Chr4:171031234..191176334 [NCBI36] Chr4:4q33-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	copy number loss	See cases [RCV000140414]	Chr4:165281036..190018185 [GRCh38] Chr4:166202188..190939340 [GRCh37] Chr4:166421638..191176334 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	copy number gain	See cases [RCV000140450]	Chr4:179295511..190036318 [GRCh38] Chr4:180216665..190957473 [GRCh37] Chr4:180453659..191194467 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	copy number gain	See cases [RCV000141422]	Chr4:184924265..186578389 [GRCh38] Chr4:185845419..187499543 [GRCh37] Chr4:186082413..187736537 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	copy number gain	See cases [RCV000140982]	Chr4:160757699..190091407 [GRCh38] Chr4:161678851..191012562 [GRCh37] Chr4:161898301..191246543 [NCBI36] Chr4:4q32.1-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	copy number loss	See cases [RCV000141964]	Chr4:167373716..190036318 [GRCh38] Chr4:168294867..190957473 [GRCh37] Chr4:168531442..191194467 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	copy number loss	See cases [RCV000141490]	Chr4:173989029..189975519 [GRCh38] Chr4:174910180..190828225 [GRCh37] Chr4:175146755..191133668 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	copy number gain	See cases [RCV000141753]	Chr4:182732498..187998523 [GRCh38] Chr4:183653651..188919677 [GRCh37] Chr4:183890645..189156671 [NCBI36] Chr4:4q35.1-35.2	likely pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	copy number loss	See cases [RCV000142279]	Chr4:181762338..185175891 [GRCh38] Chr4:182683491..186097045 [GRCh37] Chr4:182920485..186334039 [NCBI36] Chr4:4q34.3-35.1	uncertain significance
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	copy number loss	See cases [RCV000142368]	Chr4:168970400..186936738 [GRCh38] Chr4:169891551..187857892 [GRCh37] Chr4:170128126..188094886 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	copy number loss	See cases [RCV000143079]	Chr4:172501374..190095332 [GRCh38] Chr4:173422525..190828225 [GRCh37] Chr4:173659100..191250468 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	copy number gain	See cases [RCV000143010]	Chr4:180717850..190095391 [GRCh38] Chr4:181639003..190828225 [GRCh37] Chr4:181875997..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic\|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	copy number gain	See cases [RCV000143331]	Chr4:168119317..190095391 [GRCh38] Chr4:169040468..190828225 [GRCh37] Chr4:169277043..191250527 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	copy number loss	See cases [RCV000143232]	Chr4:170899124..190036318 [GRCh38] Chr4:171820275..190957473 [GRCh37] Chr4:172056850..191194467 [NCBI36] Chr4:4q33-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	copy number loss	See cases [RCV000143626]	Chr4:176756632..189621964 [GRCh38] Chr4:177677786..190543118 [GRCh37] Chr4:177914780..190780112 [NCBI36] Chr4:4q34.3-35.2	likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	copy number gain	See cases [RCV000143559]	Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	copy number loss	See cases [RCV000148272]	Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	copy number loss	See cases [RCV000239790]	Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	copy number loss	See cases [RCV000239851]	Chr4:178243625..190713650 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1	copy number loss	See cases [RCV000240072]	Chr4:185941418..189180194 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	copy number gain	See cases [RCV000240392]	Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1	copy number loss	See cases [RCV000449363]	Chr4:185381293..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1	copy number loss	See cases [RCV000449221]	Chr4:185253508..190713591 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1	copy number loss	See cases [RCV000446613]	Chr4:175550289..190838582 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1	copy number loss	See cases [RCV000446115]	Chr4:167413365..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3	copy number gain	See cases [RCV000446531]	Chr4:166735148..190957473 [GRCh37] Chr4:4q32.3-35.2	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
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1	copy number loss	See cases [RCV000445881]	Chr4:175749001..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1	copy number loss	See cases [RCV000448048]	Chr4:175550289..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:185787209-186451149)x3	copy number gain	See cases [RCV000447805]	Chr4:185787209..186451149 [GRCh37] Chr4:4q35.1	likely benign
GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	copy number gain	See cases [RCV000448219]	Chr4:183959053..186858555 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	copy number loss	See cases [RCV000512074]	Chr4:184852835..190957473 [GRCh37] Chr4:4q35.1-35.2	likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	copy number gain	See cases [RCV000510222]	Chr4:166436844..190957473 [GRCh37] Chr4:4q32.3-35.2	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 4q31.3-35.2(chr4:153890440-190957473)x3	copy number gain	See cases [RCV000510713]	Chr4:153890440..190957473 [GRCh37] Chr4:4q31.3-35.2	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
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
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	copy number gain	See cases [RCV000511078]	Chr4:176306103..190957473 [GRCh37] Chr4:4q34.2-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3	copy number gain	See cases [RCV000510983]	Chr4:184870144..186592638 [GRCh37] Chr4:4q35.1	likely benign
NM_001300781.2(HELT):c.26A>G (p.Lys9Arg)	single nucleotide variant	Inborn genetic diseases [RCV003276570]	Chr4:185018954 [GRCh38] Chr4:185940108 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	copy number gain	See cases [RCV000512153]	Chr4:180702769..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	copy number gain	See cases [RCV000512542]	Chr4:156465633..190957473 [GRCh37] Chr4:4q32.1-35.2	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
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	copy number gain	not provided [RCV000682478]	Chr4:159492464..190957473 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	copy number loss	not provided [RCV000682484]	Chr4:169969014..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	copy number loss	not provided [RCV000682492]	Chr4:175709188..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	copy number gain	not provided [RCV000682495]	Chr4:178771936..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	copy number gain	not provided [RCV000682497]	Chr4:185017749..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
Single allele	deletion	not provided [RCV000677918]	Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	copy number loss	not provided [RCV000682493]	Chr4:176493246..190957473 [GRCh37] Chr4:4q34.2-35.2	pathogenic
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 4q34.3-35.2(chr4:183157313-191028879)x1	copy number loss	not provided [RCV000744206]	Chr4:183157313..191028879 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3	copy number gain	not provided [RCV000744219]	Chr4:184040122..187880098 [GRCh37] Chr4:4q35.1-35.2	uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1	copy number loss	not provided [RCV000744226]	Chr4:185137253..190915650 [GRCh37] Chr4:4q35.1-35.2	pathogenic
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
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	copy number loss	not provided [RCV000767793]	Chr4:174610492..190427545 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	copy number loss	not provided [RCV000767673]	Chr4:171663620..190431429 [GRCh37] Chr4:4q33-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	copy number loss	not provided [RCV000849865]	Chr4:179996712..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3	copy number gain	not provided [RCV000849196]	Chr4:185399884..186542127 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	copy number loss	not provided [RCV001005626]	Chr4:178566256..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	copy number loss	not provided [RCV000845722]	Chr4:166623890..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	copy number loss	not provided [RCV000846268]	Chr4:177189906..190816266 [GRCh37] Chr4:4q34.2-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	copy number gain	not provided [RCV000847360]	Chr4:169607746..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	copy number loss	not provided [RCV000846185]	Chr4:184648532..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:185874622-186167917)x3	copy number gain	not provided [RCV001005632]	Chr4:185874622..186167917 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	copy number loss	not provided [RCV001005612]	Chr4:165010461..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	copy number loss	not provided [RCV000998343]	Chr4:183245174..190948359 [GRCh37] Chr4:4q35.1-35.2	likely pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	copy number gain	not provided [RCV001005627]	Chr4:179752903..187987047 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3	copy number gain	not provided [RCV001005631]	Chr4:185785184..188207908 [GRCh37] Chr4:4q35.1-35.2	uncertain significance
GRCh37/hg19 4q35.1(chr4:185745161-186099203)x3	copy number gain	not provided [RCV001259892]	Chr4:185745161..186099203 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	copy number loss	Atypical behavior [RCV001291982]	Chr4:179554876..190916678 [GRCh37] Chr4:4q34.3-35.2	likely pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	copy number loss	not specified [RCV002053473]	Chr4:183221828..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	copy number gain	not specified [RCV002053465]	Chr4:159755174..190225765 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	copy number gain	not specified [RCV002053471]	Chr4:175855408..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	copy number loss	not specified [RCV002053475]	Chr4:185381293..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	copy number loss	FETAL DEMISE [RCV002282976]	Chr4:174944132..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	copy number loss	See cases [RCV002292211]	Chr4:185211271..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	copy number loss	See cases [RCV002292401]	Chr4:159174483..190957473 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	copy number loss	See cases [RCV002292706]	Chr4:167779888..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1	copy number loss	not provided [RCV002472580]	Chr4:185748860..188413920 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:185935020-186237904)x3	copy number gain	not provided [RCV002474641]	Chr4:185935020..186237904 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	copy number loss	not provided [RCV002472626]	Chr4:183694501..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
NM_001300781.2(HELT):c.86G>A (p.Cys29Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003307333]	Chr4:185019445 [GRCh38] Chr4:185940599 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.133-17C>T	single nucleotide variant	Inborn genetic diseases [RCV002779841]	Chr4:185019730 [GRCh38] Chr4:185940884 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.27+123A>C	single nucleotide variant	Inborn genetic diseases [RCV002906166]	Chr4:185019078 [GRCh38] Chr4:185940232 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.412G>A (p.Gly138Ser)	single nucleotide variant	Inborn genetic diseases [RCV002773531]	Chr4:185020455 [GRCh38] Chr4:185941609 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.548C>T (p.Ala183Val)	single nucleotide variant	Inborn genetic diseases [RCV002641881]	Chr4:185020591 [GRCh38] Chr4:185941745 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.211C>T (p.Pro71Ser)	single nucleotide variant	Inborn genetic diseases [RCV002955955]	Chr4:185019825 [GRCh38] Chr4:185940979 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.27+65G>T	single nucleotide variant	Inborn genetic diseases [RCV002802543]	Chr4:185019020 [GRCh38] Chr4:185940174 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.320G>A (p.Arg107Gln)	single nucleotide variant	Inborn genetic diseases [RCV002712265]	Chr4:185020363 [GRCh38] Chr4:185941517 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.27+73G>A	single nucleotide variant	Inborn genetic diseases [RCV002766961]	Chr4:185019028 [GRCh38] Chr4:185940182 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.133-21G>C	single nucleotide variant	Inborn genetic diseases [RCV002916609]	Chr4:185019726 [GRCh38] Chr4:185940880 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.27+68A>C	single nucleotide variant	Inborn genetic diseases [RCV002813785]	Chr4:185019023 [GRCh38] Chr4:185940177 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.407C>T (p.Pro136Leu)	single nucleotide variant	Inborn genetic diseases [RCV002807937]	Chr4:185020450 [GRCh38] Chr4:185941604 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.133-18C>G	single nucleotide variant	Inborn genetic diseases [RCV002807661]	Chr4:185019729 [GRCh38] Chr4:185940883 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.380G>T (p.Arg127Leu)	single nucleotide variant	Inborn genetic diseases [RCV002808697]	Chr4:185020423 [GRCh38] Chr4:185941577 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.511T>A (p.Ser171Thr)	single nucleotide variant	Inborn genetic diseases [RCV002718385]	Chr4:185020554 [GRCh38] Chr4:185941708 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.503C>G (p.Pro168Arg)	single nucleotide variant	Inborn genetic diseases [RCV002717805]	Chr4:185020546 [GRCh38] Chr4:185941700 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.485G>A (p.Gly162Asp)	single nucleotide variant	Inborn genetic diseases [RCV002678681]	Chr4:185020528 [GRCh38] Chr4:185941682 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.704C>A (p.Thr235Lys)	single nucleotide variant	Inborn genetic diseases [RCV002722293]	Chr4:185020747 [GRCh38] Chr4:185941901 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.706C>T (p.Pro236Ser)	single nucleotide variant	Inborn genetic diseases [RCV002944980]	Chr4:185020749 [GRCh38] Chr4:185941903 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.714C>G (p.His238Gln)	single nucleotide variant	Inborn genetic diseases [RCV003198960]	Chr4:185020757 [GRCh38] Chr4:185941911 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.238C>G (p.Leu80Val)	single nucleotide variant	Inborn genetic diseases [RCV003261903]	Chr4:185020281 [GRCh38] Chr4:185941435 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.649C>T (p.Arg217Trp)	single nucleotide variant	Inborn genetic diseases [RCV003357885]	Chr4:185020692 [GRCh38] Chr4:185941846 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.469G>T (p.Ala157Ser)	single nucleotide variant	Inborn genetic diseases [RCV003354927]	Chr4:185020512 [GRCh38] Chr4:185941666 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.403C>G (p.Pro135Ala)	single nucleotide variant	Inborn genetic diseases [RCV003350976]	Chr4:185020446 [GRCh38] Chr4:185941600 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.245A>T (p.Glu82Val)	single nucleotide variant	Inborn genetic diseases [RCV003354313]	Chr4:185020288 [GRCh38] Chr4:185941442 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	copy number gain	not provided [RCV003484595]	Chr4:167409608..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
Single allele	deletion	not provided [RCV003448667]	Chr4:180937545..190915069 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:185160596-186000108)x1	copy number loss	not specified [RCV003986531]	Chr4:185160596..186000108 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	copy number gain	not specified [RCV003986533]	Chr4:123399154..190957473 [GRCh37] Chr4:4q27-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3	copy number gain	not specified [RCV003986530]	Chr4:184752570..186308447 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	copy number gain	not specified [RCV003986502]	Chr4:184577681..186368031 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	copy number loss	not specified [RCV003986532]	Chr4:161589441..190957473 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	copy number loss	not provided [RCV003885510]	Chr4:169060637..191154276 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	copy number loss	not specified [RCV003986504]	Chr4:175496275..186495932 [GRCh37] Chr4:4q34.1-35.1	pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	copy number gain	not provided [RCV000849098]	Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:185779167-186206723)x3	copy number gain	not provided [RCV001005630]	Chr4:185779167..186206723 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.133-88C>A	single nucleotide variant	Inborn genetic diseases [RCV003277031]	Chr4:185019659 [GRCh38] Chr4:185940813 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.133-60G>T	single nucleotide variant	Inborn genetic diseases [RCV002656450]	Chr4:185019687 [GRCh38] Chr4:185940841 [GRCh37] Chr4:4q35.1	uncertain significance
NM_001300781.2(HELT):c.27+98C>A	single nucleotide variant	Inborn genetic diseases [RCV003257348]	Chr4:185019053 [GRCh38] Chr4:185940207 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	copy number gain	not specified [RCV003986496]	Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1018
Count of miRNA genes:	298
Interacting mature miRNAs:	319
Transcripts:	ENST00000338875, ENST00000505610, ENST00000513599, ENST00000515777
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

Helt

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	185,940,597 - 185,941,572	UniSTS	GRCh37
Celera	4	183,267,517 - 183,268,492	UniSTS
HuRef	4	181,693,898 - 181,694,873	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

Low

1174

115

229

634

Below cutoff

469

545

224

335

876

472

380

108

496

501

192

546

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001300781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001300782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054349977	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC093824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC140795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000338875 ⟹ ENSP00000343464

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	185,018,929 - 185,020,796 (+)	Ensembl

RefSeq Acc Id:

ENST00000505610 ⟹ ENSP00000422140

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	185,018,841 - 185,020,804 (+)	Ensembl

RefSeq Acc Id:

ENST00000513599

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	185,018,841 - 185,020,802 (+)	Ensembl

RefSeq Acc Id:

ENST00000515777 ⟹ ENSP00000426033

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	185,018,490 - 185,020,953 (+)	Ensembl

RefSeq Acc Id:

NM_001300781 ⟹ NP_001287710

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	185,018,490 - 185,020,953 (+)	NCBI
CHM1_1	4	185,916,469 - 185,918,432 (+)	NCBI
T2T-CHM13v2.0	4	188,361,903 - 188,364,366 (+)	NCBI

Sequence:

show sequence

CTGCGCCCCTGCGCTCCGCGCCCGCGACTGCTGCAGGCGCTTGCTCGCCCGCCGGCCCCAGTTT
ACCGCCTCCTTTTCCCGCCCGAGCTGTTGCCATGCAAATGTTATTCCTGGGCCGATCACGTGTC
CTTTGAAGGGCCACGTGGATTAACAAAGCTGATCTGCCCCCAGCTCGCCCCCCTCGGCTGCTAA
TTTTTTTTTTTTCTTAACTTCTTTAAAACTGATCTTGAATGCATACATCCTCCAAACGCAGCTC
CCCTAATCCTATGGAATAATTCAACTCGTGAATGCATCTGGAGCCCTAGATGACCGCTTTATAA
GGCAGCCCTCGGAGTTGGGAGGCTGCAGTCTACCTGGGACACTCGAGGAGGCACACGAGGCGGA
AAAGTGGACGGGTGCCCCGCGCCACCGCCTCTCCCGAGGGCGCGTACTGACCAGGATGTCAGAC
AAGCTCAAGGAACGCAAAAGAACCCCCGTTTCTCATAAAGTGATAGAAAAGCGGAGGAGGGACA
GGATCAACCGCTGCTTGAACGAGCTGGGCAAGACAGTGCCCATGGCCTTGGCGAAGCAGAGTTC
CGGGAAGCTGGAGAAGGCGGAGATCCTCGAGATGACCGTTCAGTACCTGAGAGCACTGCACTCC
GCTGATTTTCCCCGGGGAAGGGAAAAAGCAGAACTTCTAGCGGAGTTTGCCAACTACTTCCACT
ATGGCTACCACGAGTGCATGAAGAACCTGGTGCATTACCTCACCACGGTGGAGCGGATGGAGAC
CAAGGACACGAAGTACGCGCGCATCCTCGCCTTCTTGCAGTCCAAGGCCCGCCTGGGCGCGGAG
CCCGCCTTTCCGCCGCTGGGTTCGCTCCCGGAGCCGGATTTCTCCTATCAGCTGCACCCTGCGG
GGCCCGAATTCGCTGGTCACAGCCCGGGCGAGGCCGCTGTGTTCCCGCAGGGCTCTGGTGCCGG
GCCTTTCCCCTGGCCGCCTGGCGCGGCCCGCAGCCCCGCGCTGCCCTACCTGCCCAGCGCGCCA
GTGCCGCTCGCTAGCCCAGCGCAGCAGCACAGCCCCTTCCTGACACCGGTGCAGGGCCTGGACC
GGCATTACCTCAACCTGATCGGCCACGCGCACCCCAACGCCCTTAACCTGCACACGCCCCAGCA
CCCCCCGGTGCTCTGACGCCCACTCGCCCGCCAGATTTCTCCTCGCTTTGGGCGCTTTTAGGAG
AAATGCTGTATATATTGTACACATAATGTGTAAATATTGTACCCCAAAAATCTGGGCTGGGGGA
GGCAAAGAGCGAATGAGTCTTCTGAAGGATCTCCCCCTGGTAATAAACGTTTTCTGATAAAGAC
CCAAA

hide sequence

RefSeq Acc Id:

NM_001300782 ⟹ NP_001287711

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	185,018,490 - 185,020,953 (+)	NCBI
CHM1_1	4	185,916,469 - 185,918,432 (+)	NCBI
T2T-CHM13v2.0	4	188,361,903 - 188,364,366 (+)	NCBI

Sequence:

show sequence

CTGCGCCCCTGCGCTCCGCGCCCGCGACTGCTGCAGGCGCTTGCTCGCCCGCCGGCCCCAGTTT
ACCGCCTCCTTTTCCCGCCCGAGCTGTTGCCATGCAAATGTTATTCCTGGGCCGATCACGTGTC
CTTTGAAGGGCCACGTGGATTAACAAAGCTGATCTGCCCCCAGCTCGCCCCCCTCGGCTGCTAA
TTTTTTTTTTTTCTTAACTTCTTTAAAACTGATCTTGAATGCATACATCCTCCAAACGCAGCTC
CCCTAATCCTATGGAATAATTCAACTCGTGAATGCATCTGGAGCCCTAGATGACCGCTTTATAA
GGCAGCCCTCGGAGTTGGGAGGCTGCAGTCTACCTGGGACACTCGAGGAGGCACACGAGGCGGA
AAAGTGGACGGGTGCCCCGCGCCACCGCCTCTCCCGAGGGCGCGTACTGACCAGGATGTCAGAC
AAGCTCAAGGAACGCAAAAGAACCCCCGTTTCTCATAAAGTGATAGAAAAGCGGAGGAGGGACA
GGATCAACCGCTGCTTGAACGAGCTGGGCAAGACAGTGCCCATGGCCTTGGCGAAGCAGAGTTC
CGGGAAGCTGGAGAAGGCGGAGATCCTCGAGATGACCGTTCAGTACCTGAGAGCACTGCACTCC
GCTGATTTTCCCCGGGGAAGGGAAAAAGAACTTCTAGCGGAGTTTGCCAACTACTTCCACTATG
GCTACCACGAGTGCATGAAGAACCTGGTGCATTACCTCACCACGGTGGAGCGGATGGAGACCAA
GGACACGAAGTACGCGCGCATCCTCGCCTTCTTGCAGTCCAAGGCCCGCCTGGGCGCGGAGCCC
GCCTTTCCGCCGCTGGGTTCGCTCCCGGAGCCGGATTTCTCCTATCAGCTGCACCCTGCGGGGC
CCGAATTCGCTGGTCACAGCCCGGGCGAGGCCGCTGTGTTCCCGCAGGGCTCTGGTGCCGGGCC
TTTCCCCTGGCCGCCTGGCGCGGCCCGCAGCCCCGCGCTGCCCTACCTGCCCAGCGCGCCAGTG
CCGCTCGCTAGCCCAGCGCAGCAGCACAGCCCCTTCCTGACACCGGTGCAGGGCCTGGACCGGC
ATTACCTCAACCTGATCGGCCACGCGCACCCCAACGCCCTTAACCTGCACACGCCCCAGCACCC
CCCGGTGCTCTGACGCCCACTCGCCCGCCAGATTTCTCCTCGCTTTGGGCGCTTTTAGGAGAAA
TGCTGTATATATTGTACACATAATGTGTAAATATTGTACCCCAAAAATCTGGGCTGGGGGAGGC
AAAGAGCGAATGAGTCTTCTGAAGGATCTCCCCCTGGTAATAAACGTTTTCTGATAAAGACCCA
AA

hide sequence

RefSeq Acc Id:

XM_017008186 ⟹ XP_016863675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	185,018,929 - 185,020,953 (+)	NCBI

Sequence:

show sequence

CTCACCTGGCCCGAGCGTGGCGGGCCAGGAGTCCCTTCCTAGAGCGAATCTGAGCAGTGTGCGC
GGCTGGAGAGGCGGCTTGCACCCAGCTGCTAGAGCCGCGCCTTTGACGACTTCCCGGGCAAAGC
CATCCTAAACATACAACCCTCTCTTCGCAGAGAACCCCCGTTTCTCATAAAGTGATAGAAAAGC
GGAGGAGGGACAGGATCAACCGCTGCTTGAACGAGCTGGGCAAGACAGTGCCCATGGCCTTGGC
GAAGCAGAGTTCCGGGAAGCTGGAGAAGGCGGAGATCCTCGAGATGACCGTTCAGTACCTGAGA
GCACTGCACTCCGCTGATTTTCCCCGGGGAAGGGAAAAAGCAGAACTTCTAGCGGAGTTTGCCA
ACTACTTCCACTATGGCTACCACGAGTGCATGAAGAACCTGGTGCATTACCTCACCACGGTGGA
GCGGATGGAGACCAAGGACACGAAGTACGCGCGCATCCTCGCCTTCTTGCAGTCCAAGGCCCGC
CTGGGCGCGGAGCCCGCCTTTCCGCCGCTGGGTTCGCTCCCGGAGCCGGATTTCTCCTATCAGC
TGCACCCTGCGGGGCCCGAATTCGCTGGTCACAGCCCGGGCGAGGCCGCTGTGTTCCCGCAGGG
CTCTGGTGCCGGGCCTTTCCCCTGGCCGCCTGGCGCGGCCCGCAGCCCCGCGCTGCCCTACCTG
CCCAGCGCGCCAGTGCCGCTCGCTAGCCCAGCGCAGCAGCACAGCCCCTTCCTGACACCGGTGC
AGGGCCTGGACCGGCATTACCTCAACCTGATCGGCCACGCGCACCCCAACGCCCTTAACCTGCA
CACGCCCCAGCACCCCCCGGTGCTCTGACGCCCACTCGCCCGCCAGATTTCTCCTCGCTTTGGG
CGCTTTTAGGAGAAATGCTGTATATATTGTACACATAATGTGTAAATATTGTACCCCAAAAATC
TGGGCTGGGGGAGGCAAAGAGCGAATGAGTCTTCTGAAGGATCTCCCCCTGGTAATAAACGTTT
TCTGATAAAGACCCAAAGAGAGGGATTTATGTATTACCTTCTGCTCATCCACACCCGTCCCCTC
CGCGGTGCCCAGGGCGCAAGGCTGACAGGGTTCAAGGTAACAGCCCTCAGTAACTTGGTGAGGG
GCCCGCTGTGGAGTCTGAGGGAGGGGGACGTTAAATGGAGGTTCAGGCAGATATTCTAGGCATC
GCTTAAGGGCGGGATTCGCGGCTTCCTGCACCCGCCCCATCTTGAGCATTAGCCTCAGAGAAAC
AGGGGAGGCGAAGAACACTGCCCTTGGCTCTCAGGAAAATGCAAATTGAAGGACCTGCCCCAAA
CTGACTTAG

hide sequence

RefSeq Acc Id:

XM_054349977 ⟹ XP_054205952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	188,362,342 - 188,364,366 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001287710	(Get FASTA)	NCBI Sequence Viewer
	NP_001287711	(Get FASTA)	NCBI Sequence Viewer
	XP_016863675	(Get FASTA)	NCBI Sequence Viewer
	XP_054205952	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A6NFD8	(Get FASTA)	NCBI Sequence Viewer
	AAI40796	(Get FASTA)	NCBI Sequence Viewer
	AAI44568	(Get FASTA)	NCBI Sequence Viewer
	AAI44570	(Get FASTA)	NCBI Sequence Viewer
	EAX04657	(Get FASTA)	NCBI Sequence Viewer
	EAX04658	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000343464
	ENSP00000343464.4
	ENSP00000422140
	ENSP00000422140.1
	ENSP00000426033
	ENSP00000426033.1

RefSeq Acc Id:	NP_001287710 ⟸ NM_001300781
- Peptide Label:	isoform 1
- UniProtKB:	B7ZMI7 (UniProtKB/Swiss-Prot), B2RTS5 (UniProtKB/Swiss-Prot), B7ZMI8 (UniProtKB/Swiss-Prot), A6NFD8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSDKLKERKRTPVSHKVIEKRRRDRINRCLNELGKTVPMALAKQSSGKLEKAEILEMTVQYLRA LHSADFPRGREKAELLAEFANYFHYGYHECMKNLVHYLTTVERMETKDTKYARILAFLQSKARL GAEPAFPPLGSLPEPDFSYQLHPAGPEFAGHSPGEAAVFPQGSGAGPFPWPPGAARSPALPYLP SAPVPLASPAQQHSPFLTPVQGLDRHYLNLIGHAHPNALNLHTPQHPPVL hide sequence

RefSeq Acc Id:	NP_001287711 ⟸ NM_001300782
- Peptide Label:	isoform 2
- UniProtKB:	A6NFD8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSDKLKERKRTPVSHKVIEKRRRDRINRCLNELGKTVPMALAKQSSGKLEKAEILEMTVQYLRA LHSADFPRGREKELLAEFANYFHYGYHECMKNLVHYLTTVERMETKDTKYARILAFLQSKARLG AEPAFPPLGSLPEPDFSYQLHPAGPEFAGHSPGEAAVFPQGSGAGPFPWPPGAARSPALPYLPS APVPLASPAQQHSPFLTPVQGLDRHYLNLIGHAHPNALNLHTPQHPPVL hide sequence

RefSeq Acc Id:

XP_016863675 ⟸ XM_017008186

- Peptide Label:

isoform X1

- Sequence:

show sequence

MALAKQSSGKLEKAEILEMTVQYLRALHSADFPRGREKAELLAEFANYFHYGYHECMKNLVHYL
TTVERMETKDTKYARILAFLQSKARLGAEPAFPPLGSLPEPDFSYQLHPAGPEFAGHSPGEAAV
FPQGSGAGPFPWPPGAARSPALPYLPSAPVPLASPAQQHSPFLTPVQGLDRHYLNLIGHAHPNA
LNLHTPQHPPVL

hide sequence

RefSeq Acc Id:

ENSP00000422140 ⟸ ENST00000505610

RefSeq Acc Id:

ENSP00000343464 ⟸ ENST00000338875

RefSeq Acc Id:

ENSP00000426033 ⟸ ENST00000515777

RefSeq Acc Id:	XP_054205952 ⟸ XM_054349977
- Peptide Label:	isoform X1

Protein Domains

bHLH Orange

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A6NFD8-F1-model_v2	AlphaFold	A6NFD8	1-242	view protein structure

Promoters

RGD ID:

6869020

Promoter ID:

EPDNEW_H7675

Type:

initiation region

Name:

HELT_1

Description:

helt bHLH transcription factor

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	185,018,834 - 185,018,894	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:33783	AgrOrtholog
COSMIC	HELT	COSMIC
Ensembl Genes	ENSG00000187821	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000338875	ENTREZGENE
	ENST00000338875.5	UniProtKB/TrEMBL
	ENST00000505610	ENTREZGENE
	ENST00000505610.5	UniProtKB/Swiss-Prot
	ENST00000515777	ENTREZGENE
	ENST00000515777.6	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.250.980	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000187821	GTEx
HGNC ID	HGNC:33783	ENTREZGENE
Human Proteome Map	HELT	Human Proteome Map
InterPro	bHLH_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Orange_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:391723	UniProtKB/Swiss-Prot
NCBI Gene	391723	ENTREZGENE
OMIM	617546	OMIM
PANTHER	BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, HES-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HAIRY AND ENHANCER OF SPLIT-RELATED PROTEIN HELT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Hairy_orange	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162390819	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ORANGE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Orange domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47459	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WSW0_HUMAN	UniProtKB/TrEMBL
	A6NFD8	ENTREZGENE
	B2RTS5	ENTREZGENE
	B7ZMI7	ENTREZGENE
	B7ZMI8	ENTREZGENE
	HELT_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RTS5	UniProtKB/Swiss-Prot
	B7ZMI7	UniProtKB/Swiss-Prot
	B7ZMI8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-09-20	HELT	helt bHLH transcription factor	HELT	HES/HEY-like transcription factor	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)

Send us a Message

Imported Disease Annotations - ClinVar