HES4 (hes family bHLH transcription factor 4)

Gene: HES4 (hes family bHLH transcription factor 4) Homo sapiens

Analyze

Symbol:

HES4

Name:

hes family bHLH transcription factor 4

RGD ID:

1354442

HGNC Page

HGNC:24149

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 and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bHLH factor Hes4; bHLHb42; class B basic helix-loop-helix protein 42; hairy and enhancer of split 4; hHES4; transcription factor HES-4

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 ...
Pan paniscus (bonobo/pygmy chimpanzee):	HES4 (hes family bHLH transcription factor 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	HES4 (hes family bHLH transcription factor 4)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hes4 (hes family bHLH transcription factor 4)	NCBI	Ortholog
Sus scrofa (pig):	HES4 (hes family bHLH transcription factor 4)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	HES4 (hes family bHLH transcription factor 4)	NCBI	Ortholog
Alliance orthologs ³
Danio rerio (zebrafish):	her9 (hairy-related 9)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Drosophila melanogaster (fruit fly):	dpn	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	E(spl)m3-HLH	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	Hesr	Alliance	DIOPT (Ensembl Compara\|OMA\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	hes4	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	hes4.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	hes4.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	1	998,964 - 1,000,097 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	998,962 - 1,000,172 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	934,344 - 935,477 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	924,207 - 925,333 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	974,411 - 975,537	NCBI
Celera	1	1,654,697 - 1,655,907 (+)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	205,850 - 207,060 (-)	NCBI		HuRef
CHM1_1	1	921,200 - 922,410 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	429,119 - 430,252 (-)	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

chromosome 1p36 deletion syndrome (IAGP)

Ehlers-Danlos syndrome spondylodysplastic type 2 (IAGP)

genetic disease (IAGP)

immunodeficiency 16 (IAGP)

immunodeficiency 38 (IAGP)

Joubert syndrome 25 (IAGP)

Neurodevelopmental Disorders (IAGP)

Peroxisome Biogenesis Disorder, Complementation Group 7 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

2-palmitoylglycerol (EXP)

5-aza-2'-deoxycytidine (EXP)

acrylamide (EXP)

aflatoxin B1 (EXP)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

butan-1-ol (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

cisplatin (EXP)

cyclosporin A (EXP)

diazinon (EXP)

doxorubicin (EXP)

fulvestrant (EXP)

lipopolysaccharide (EXP)

malathion (EXP)

N-methyl-4-phenylpyridinium (EXP)

paracetamol (EXP)

quercetin (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

sodium arsenate (EXP)

temozolomide (EXP)

trichostatin A (EXP)

triclosan (EXP)

urethane (EXP)

valproic acid (EXP)

zinc atom (EXP)

zinc(0) (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anterior/posterior pattern specification (IBA)

cell differentiation (IEA)

nervous system development (IEA)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

Cellular Component

chromatin (ISA)

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA)

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

protein binding (IPI)

protein dimerization activity (IEA)

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

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Generalized-onset seizure (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:8889548	PMID:11260262	PMID:12477932	PMID:15254753	PMID:15489334	PMID:16710414	PMID:17611704	PMID:19274049	PMID:20195357	PMID:20211142	PMID:21666788	PMID:21873635
PMID:22658674	PMID:25480889	PMID:25579220	PMID:27786411	PMID:31586073	PMID:31919081	PMID:32460013	PMID:32814053	PMID:33961781

Genomics

Comparative Map Data

HES4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	998,964 - 1,000,097 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	998,962 - 1,000,172 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	934,344 - 935,477 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	924,207 - 925,333 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	974,411 - 975,537	NCBI
Celera	1	1,654,697 - 1,655,907 (+)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	205,850 - 207,060 (-)	NCBI		HuRef
CHM1_1	1	921,200 - 922,410 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	429,119 - 430,252 (-)	NCBI		T2T-CHM13v2.0

HES4
(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	1	227,270,295 - 227,271,341 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	225,966,912 - 225,967,958 (+)	NCBI		NHGRI_mPanPan1

HES4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	56,221,509 - 56,226,938 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	56,225,497 - 56,226,772 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	56,299,569 - 56,304,879 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	56,425,073 - 56,430,382 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	56,426,788 - 56,430,438 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	56,416,121 - 56,421,431 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	56,308,024 - 56,313,332 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	56,698,073 - 56,703,383 (-)	NCBI		UU_Cfam_GSD_1.0

Hes4
(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_024405058	27,401,708 - 27,414,167 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936737	2,054,879 - 2,056,126 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HES4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	63,351,602 - 63,356,466 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	63,351,593 - 63,356,690 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	57,945,481 - 57,947,004 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HES4
(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	20	130,433,355 - 130,438,589 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	130,435,291 - 130,436,213 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	35,060,767 - 35,065,995 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in HES4
25 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	copy number gain	Distal trisomy 1p36 [RCV000519759]	Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|See cases [RCV000050339]	Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2	benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	copy number loss	See cases [RCV000050857]	Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	copy number loss	See cases [RCV000050882]	Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	copy number loss	See cases [RCV000050642]	Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	copy number loss	See cases [RCV000050647]	Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000050752]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	copy number loss	See cases [RCV000051143]	Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33(chr1:911300-1084417)x3	copy number gain	See cases [RCV000051198]	Chr1:911300..1084417 [GRCh38] Chr1:846680..1019797 [GRCh37] Chr1:836543..1009660 [NCBI36] Chr1:1p36.33	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	copy number gain	See cases [RCV000051779]	Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	copy number gain	See cases [RCV000051780]	Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	copy number gain	See cases [RCV000051781]	Chr1:832679..1254039 [GRCh38] Chr1:768059..1189419 [GRCh37] Chr1:757922..1179282 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|See cases [RCV000051782]	Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	copy number loss	See cases [RCV000052043]	Chr1:844347..2131805 [GRCh38] Chr1:779727..2063244 [GRCh37] Chr1:769590..2053104 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	copy number loss	See cases [RCV000052044]	Chr1:845437..2523513 [GRCh38] Chr1:780817..2454952 [GRCh37] Chr1:770680..2444812 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	copy number loss	See cases [RCV000052063]	Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	copy number loss	See cases [RCV000052064]	Chr1:872305..2047715 [GRCh38] Chr1:807685..1979154 [GRCh37] Chr1:797548..1969014 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	copy number loss	See cases [RCV000052065]	Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	copy number loss	See cases [RCV000052066]	Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	copy number gain	See cases [RCV000052067]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	copy number loss	See cases [RCV000052068]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	copy number loss	See cases [RCV000051994]	Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	copy number loss	See cases [RCV000051996]	Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1	copy number loss	See cases [RCV000052014]	Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1	copy number loss	See cases [RCV000052015]	Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|See cases [RCV000052016]	Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1	copy number loss	See cases [RCV000052017]	Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1	copy number loss	See cases [RCV000052018]	Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|See cases [RCV000052037]	Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|See cases [RCV000052039]	Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	copy number loss	See cases [RCV000052040]	Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|See cases [RCV000052041]	Chr1:844347..2014739 [GRCh38] Chr1:779727..1946178 [GRCh37] Chr1:769590..1936038 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	copy number gain	See cases [RCV000133658]	Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	copy number loss	See cases [RCV000134747]	Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	copy number gain	See cases [RCV000134750]	Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	copy number loss	See cases [RCV000134137]	Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	copy number loss	See cases [RCV000134055]	Chr1:844353..2420916 [GRCh38] Chr1:779733..2352355 [GRCh37] Chr1:769596..2342215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	copy number gain	See cases [RCV000134939]	Chr1:932163..1792271 [GRCh38] Chr1:867543..1723710 [GRCh37] Chr1:857406..1713570 [NCBI36] Chr1:1p36.33	likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	copy number loss	See cases [RCV000136715]	Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33(chr1:821713-1223352)x1	copy number loss	See cases [RCV000137560]	Chr1:821713..1223352 [GRCh38] Chr1:757093..1158732 [GRCh37] Chr1:746956..1148595 [NCBI36] Chr1:1p36.33	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	copy number loss	See cases [RCV000138225]	Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	copy number gain	See cases [RCV000138165]	Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	copy number loss	See cases [RCV000137890]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	copy number gain	See cases [RCV000137894]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	copy number loss	See cases [RCV000137978]	Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	copy number loss	See cases [RCV000138704]	Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	copy number loss	See cases [RCV000139404]	Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	copy number loss	See cases [RCV000140164]	Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:955565-1072906)x3	copy number gain	See cases [RCV000140038]	Chr1:955565..1072906 [GRCh38] Chr1:890945..1008286 [GRCh37] Chr1:880808..998149 [NCBI36] Chr1:1p36.33	benign
GRCh38/hg38 1p36.33(chr1:978251-1072906)x3	copy number gain	See cases [RCV000140043]	Chr1:978251..1072906 [GRCh38] Chr1:913631..1008286 [GRCh37] Chr1:903494..998149 [NCBI36] Chr1:1p36.33	benign
GRCh38/hg38 1p36.33(chr1:996104-1072906)x3	copy number gain	See cases [RCV000140045]	Chr1:996104..1072906 [GRCh38] Chr1:931484..1008286 [GRCh37] Chr1:921347..998149 [NCBI36] Chr1:1p36.33	benign
GRCh38/hg38 1p36.33(chr1:917483-1072906)x3	copy number gain	See cases [RCV000140048]	Chr1:917483..1072906 [GRCh38] Chr1:852863..1008286 [GRCh37] Chr1:842726..998149 [NCBI36] Chr1:1p36.33	benign
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	copy number loss	See cases [RCV000139876]	Chr1:821713..2554047 [GRCh38] Chr1:757093..2485486 [GRCh37] Chr1:746956..2479281 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	copy number loss	See cases [RCV000139780]	Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	copy number loss	See cases [RCV000141208]	Chr1:821713..2636393 [GRCh38] Chr1:757093..2567832 [GRCh37] Chr1:746956..2557692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	copy number loss	See cases [RCV000141318]	Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	copy number loss	See cases [RCV000141227]	Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	copy number loss	See cases [RCV000141356]	Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	copy number loss	See cases [RCV000140709]	Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	copy number loss	See cases [RCV000140892]	Chr1:914086..2465738 [GRCh38] Chr1:849466..2397177 [GRCh37] Chr1:839329..2387037 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	copy number loss	See cases [RCV000140894]	Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	copy number loss	See cases [RCV000141668]	Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	copy number loss	See cases [RCV000142178]	Chr1:914086..1538895 [GRCh38] Chr1:849466..1474275 [GRCh37] Chr1:839329..1464138 [NCBI36] Chr1:1p36.33	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	copy number loss	See cases [RCV000142754]	Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	copy number loss	See cases [RCV000143224]	Chr1:914086..1613769 [GRCh38] Chr1:849466..1549149 [GRCh37] Chr1:839329..1539012 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000148161]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	copy number loss	See cases [RCV000240189]	Chr1:874455..2577794 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	copy number loss	See cases [RCV000240333]	Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	copy number loss	Primary dilated cardiomyopathy [RCV000626523]	Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3	copy number gain	See cases [RCV000449132]	Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1	copy number loss	See cases [RCV000449148]	Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1	copy number loss	See cases [RCV000449322]	Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	copy number gain	See cases [RCV000447000]	Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1	copy number loss	See cases [RCV000446544]	Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	copy number loss	See cases [RCV000447515]	Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1	copy number loss	See cases [RCV000448903]	Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	copy number loss	See cases [RCV000512052]	Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	copy number loss	See cases [RCV000510640]	Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3	copy number gain	See cases [RCV000510511]	Chr1:849466..1663402 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1	copy number loss	See cases [RCV000511408]	Chr1:849466..2607016 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-962953)x1	copy number loss	See cases [RCV000511799]	Chr1:849466..962953 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1	copy number loss	See cases [RCV000512029]	Chr1:849466..2330338 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1	copy number loss	See cases [RCV000511834]	Chr1:849466..2748837 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1	copy number loss	See cases [RCV000510858]	Chr1:849466..2554275 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_021170.4(HES4):c.108+25G>C	single nucleotide variant	Inborn genetic diseases [RCV003255109]	Chr1:999841 [GRCh38] Chr1:935221 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.247A>G (p.Met83Val)	single nucleotide variant	Inborn genetic diseases [RCV003300499]	Chr1:999571 [GRCh38] Chr1:934951 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1	copy number loss	not provided [RCV000684531]	Chr1:849466..1314437 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1	copy number loss	not provided [RCV000684532]	Chr1:849466..2240632 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	copy number loss	not provided [RCV000684533]	Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33(chr1:879481-957640)x3	copy number gain	not provided [RCV000736321]	Chr1:879481..957640 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:894610-981353)x3	copy number gain	not provided [RCV000736322]	Chr1:894610..981353 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:897009-989216)x3	copy number gain	not provided [RCV000736323]	Chr1:897009..989216 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:47851-1165310)x1	copy number loss	not provided [RCV000736293]	Chr1:47851..1165310 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1	copy number loss	not provided [RCV000736294]	Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:82154-1226512)x3	copy number gain	not provided [RCV000736300]	Chr1:82154..1226512 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:82154-1289835)x3	copy number gain	not provided [RCV000736301]	Chr1:82154..1289835 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:82154-1289863)x3	copy number gain	not provided [RCV000736302]	Chr1:82154..1289863 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:82154-1036959)x1	copy number loss	not provided [RCV000736299]	Chr1:82154..1036959 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1	copy number loss	not provided [RCV000736303]	Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33(chr1:724519-1165310)x1	copy number loss	not provided [RCV000736311]	Chr1:724519..1165310 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:873558-962210)x3	copy number gain	not provided [RCV000736314]	Chr1:873558..962210 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:873558-989207)x3	copy number gain	not provided [RCV000736315]	Chr1:873558..989207 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:873558-989219)x3	copy number gain	not provided [RCV000736316]	Chr1:873558..989219 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:725737-1034748)x3	copy number gain	not provided [RCV000748796]	Chr1:725737..1034748 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:727037-1366830)x1	copy number loss	not provided [RCV000748800]	Chr1:727037..1366830 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33(chr1:752566-962891)x3	copy number gain	not provided [RCV000748802]	Chr1:752566..962891 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:834198-1062638)x1	copy number loss	not provided [RCV000748803]	Chr1:834198..1062638 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33(chr1:865545-1018704)x3	copy number gain	not provided [RCV000748810]	Chr1:865545..1018704 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767776]	Chr1:568708..2567832 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:568708-1283779)	copy number loss	not provided [RCV000767825]	Chr1:568708..1283779 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	copy number loss	See cases [RCV002285055]	Chr1:849466..2518608 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767775]	Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33(chr1:854277-1165197)x1	copy number loss	not provided [RCV000848570]	Chr1:854277..1165197 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	copy number gain	not provided [RCV000846682]	Chr1:727731..2107858 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	copy number loss	not provided [RCV003312163]	Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	copy number gain	See cases [RCV001007411]	Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1	copy number loss	not provided [RCV001005056]	Chr1:849466..1649932 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	copy number loss	not provided [RCV001260112]	Chr1:849466..1976788 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	copy number loss	not provided [RCV001260110]	Chr1:849466..1806659 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	copy number loss	not provided [RCV001260111]	Chr1:849466..2033256 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	copy number loss	not provided [RCV001260116]	Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	copy number loss	not provided [RCV001270634]	Chr1:753462..1717335 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	copy number loss	not provided [RCV001795535]	Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	copy number loss	not provided [RCV001829223]	Chr1:849466..2621542 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_861322)_(990361_?)dup	duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001900757]	Chr1:861322..990361 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_871132)_(990361_?)dup	duplication	Congenital myasthenic syndrome 8 [RCV001943324]	Chr1:871132..990361 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del	deletion	Combined immunodeficiency due to OX40 deficiency [RCV001919158]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]\|Joubert syndrome 25 [RCV001923368]\|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]\|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]\|not provided [RCV001943250]	Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32	pathogenic\|uncertain significance\|no classifications from unflagged records
NC_000001.10:g.(?_861322)_(2161194_?)del	deletion	Idiopathic generalized epilepsy [RCV002050272]	Chr1:861322..2161194 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_861322)_(948976_?)dup	duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV003116310]	Chr1:861322..948976 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV002247723]	Chr1:817861..1836133 [GRCh38] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_021170.4(HES4):c.599C>T (p.Ala200Val)	single nucleotide variant	Inborn genetic diseases [RCV003285755]	Chr1:999126 [GRCh38] Chr1:934506 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33(chr1:849467-1174365)x3	copy number gain	not provided [RCV002473433]	Chr1:849467..1174365 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	copy number loss	not provided [RCV002472529]	Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_021170.4(HES4):c.430G>A (p.Ala144Thr)	single nucleotide variant	Inborn genetic diseases [RCV002728866]	Chr1:999295 [GRCh38] Chr1:934675 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.605C>G (p.Pro202Arg)	single nucleotide variant	Inborn genetic diseases [RCV002733697]	Chr1:999120 [GRCh38] Chr1:934500 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.481C>G (p.Pro161Ala)	single nucleotide variant	Inborn genetic diseases [RCV002845465]	Chr1:999244 [GRCh38] Chr1:934624 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.614C>T (p.Pro205Leu)	single nucleotide variant	Inborn genetic diseases [RCV002704121]	Chr1:999111 [GRCh38] Chr1:934491 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.65G>C (p.Ser22Thr)	single nucleotide variant	Inborn genetic diseases [RCV002783921]	Chr1:999909 [GRCh38] Chr1:935289 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.635C>G (p.Pro212Arg)	single nucleotide variant	Inborn genetic diseases [RCV002986667]	Chr1:999090 [GRCh38] Chr1:934470 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.596G>T (p.Arg199Leu)	single nucleotide variant	Inborn genetic diseases [RCV002872981]	Chr1:999129 [GRCh38] Chr1:934509 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.572C>G (p.Pro191Arg)	single nucleotide variant	Inborn genetic diseases [RCV003003679]	Chr1:999153 [GRCh38] Chr1:934533 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.620C>G (p.Ala207Gly)	single nucleotide variant	Inborn genetic diseases [RCV002986666]	Chr1:999105 [GRCh38] Chr1:934485 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.638G>C (p.Gly213Ala)	single nucleotide variant	Inborn genetic diseases [RCV002788719]	Chr1:999087 [GRCh38] Chr1:934467 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.629A>T (p.Gln210Leu)	single nucleotide variant	Inborn genetic diseases [RCV002966014]	Chr1:999096 [GRCh38] Chr1:934476 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.196A>G (p.Arg66Gly)	single nucleotide variant	Inborn genetic diseases [RCV002960611]	Chr1:999700 [GRCh38] Chr1:935080 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.47G>C (p.Gly16Ala)	single nucleotide variant	Inborn genetic diseases [RCV002680400]	Chr1:999927 [GRCh38] Chr1:935307 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.451G>C (p.Gly151Arg)	single nucleotide variant	Inborn genetic diseases [RCV003175468]	Chr1:999274 [GRCh38] Chr1:934654 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.559C>T (p.Pro187Ser)	single nucleotide variant	Inborn genetic diseases [RCV003196347]	Chr1:999166 [GRCh38] Chr1:934546 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.14C>G (p.Thr5Arg)	single nucleotide variant	Inborn genetic diseases [RCV003176041]	Chr1:999960 [GRCh38] Chr1:935340 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.361G>A (p.Val121Met)	single nucleotide variant	Inborn genetic diseases [RCV003199621]	Chr1:999364 [GRCh38] Chr1:934744 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.124A>C (p.Met42Leu)	single nucleotide variant	Inborn genetic diseases [RCV003213040]	Chr1:999772 [GRCh38] Chr1:935152 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV003226604]	Chr1:1..2580976 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_021170.4(HES4):c.176C>T (p.Thr59Ile)	single nucleotide variant	Inborn genetic diseases [RCV003309079]	Chr1:999720 [GRCh38] Chr1:935100 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.43G>A (p.Ala15Thr)	single nucleotide variant	Inborn genetic diseases [RCV003378700]	Chr1:999931 [GRCh38] Chr1:935311 [GRCh37] Chr1:1p36.33	uncertain significance
NM_021170.4(HES4):c.223C>G (p.Leu75Val)	single nucleotide variant	Inborn genetic diseases [RCV003372177]	Chr1:999595 [GRCh38] Chr1:934975 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	copy number loss	not provided [RCV003482983]	Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	copy number gain	not provided [RCV003483998]	Chr1:849467..1207958 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:849467-1089576)x1	copy number loss	not provided [RCV003482972]	Chr1:849467..1089576 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	copy number gain	not specified [RCV003986984]	Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1376
Count of miRNA genes:	493
Interacting mature miRNAs:	564
Transcripts:	ENST00000304952, ENST00000428771, ENST00000481869, ENST00000484667
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.

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1909

2153

1014

230

412

106

3181

1361

2837

248

1077

1384

136

1044

1959

Low

523

601

705

390

1043

356

1168

827

875

169

377

223

160

828

Below cutoff

228

334

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001142467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB048791	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL645608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI757407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM128269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM713553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB485006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI574164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000304952 ⟹ ENSP00000304595

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	998,964 - 1,000,097 (-)	Ensembl

RefSeq Acc Id:

ENST00000428771 ⟹ ENSP00000393198

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	998,962 - 1,000,172 (-)	Ensembl

RefSeq Acc Id:

ENST00000481869

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	998,966 - 1,000,096 (-)	Ensembl

RefSeq Acc Id:

ENST00000484667 ⟹ ENSP00000425085

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	998,970 - 999,981 (-)	Ensembl

RefSeq Acc Id:

NM_001142467 ⟹ NP_001135939

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	998,964 - 1,000,097 (-)	NCBI
GRCh37	1	934,342 - 936,608 (-)	NCBI
Celera	1	1,654,697 - 1,655,907 (+)	RGD
HuRef	1	205,850 - 207,060 (-)	RGD
CHM1_1	1	921,202 - 922,410 (-)	NCBI
T2T-CHM13v2.0	1	429,119 - 430,252 (-)	NCBI

Sequence:

show sequence

GCGGGCCTGGAGCCGGGATCCGCCCTAGGGGCTCGGATCGCCGCGCGCTCGCCGCTCGCCCGCC
AGCCCGCCCGTGGTCCGTGGCGGCGCGCTCCACCCGGCACGGGGAGGCGCGGGGCGCACCATGG
CCGCAGACACGCCGGGGAAACCGAGCGCCTCGCCGATGGCAGGAGCGCCGGCCAGCGCCAGCCG
GACCCCAGACAAGCCCCGGAGCGCGGCCGAGCACCGCAAGGTGGGGTCCCGGCCGGGCGTGAGG
GGGGCGACCGGGGGGCGGGAGGGACGCGGGACTCAGCCGGTGCCCGACCCGCAGTCCTCCAAGC
CGGTCATGGAGAAGCGGCGCCGAGCGCGTATTAACGAGAGCCTCGCTCAGCTCAAAACCCTCAT
CCTGGACGCCCTCAGAAAAGAGAGCTCCCGCCACTCGAAGCTGGAGAAGGCGGACATCCTGGAG
ATGACCGTGAGACACCTGCGGAGCCTGCGTCGCGTGCAGGTGACGGCCGCGCTCAGCGCCGACC
CCGCCGTTCTGGGCAAGTACCGCGCCGGCTTCCACGAGTGTCTGGCGGAGGTGAACCGCTTCCT
GGCCGGCTGCGAGGGCGTCCCGGCCGACGTGCGCTCCCGCCTGCTGGGCCACCTGGCAGCCTGC
CTGCGCCAGCTGGGACCCTCCCGCCGCCCGGCCTCGCTGTCCCCGGCTGCCCCCGCAGAGGCCC
CAGCGCCCGAGGTCTACGCGGGCCGCCCGCTGCTGCCATCGCTCGGCGGCCCCTTCCCTCTGCT
CGCGCCGCCGCTGCTGCCGGGTCTGACCCGGGCGCTGCCCGCCGCCCCCAGGGCGGGGCCGCAG
GGCCCGGGTGGGCCCTGGAGGCCGTGGCTGCGCTGAGGCTGTGGCCCTGAGACTGCATCGGAGG
CGGCGCCCCGTTCTAGGGCCGTGGCCTTTGCCGAGACTGTAGCAGAGAAAACGTATTTATTATT
CCA

hide sequence

RefSeq Acc Id:

NM_001410700 ⟹ NP_001397629

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	998,964 - 1,000,097 (-)	NCBI
T2T-CHM13v2.0	1	429,119 - 430,252 (-)	NCBI

RefSeq Acc Id:

NM_021170 ⟹ NP_066993

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	998,964 - 1,000,097 (-)	NCBI
GRCh37	1	934,342 - 936,608 (-)	NCBI
Build 36	1	924,207 - 925,333 (-)	NCBI Archive
Celera	1	1,654,697 - 1,655,907 (+)	RGD
HuRef	1	205,850 - 207,060 (-)	RGD
CHM1_1	1	921,200 - 922,410 (-)	NCBI
T2T-CHM13v2.0	1	429,119 - 430,252 (-)	NCBI

Sequence:

show sequence

GCGGGCCTGGAGCCGGGATCCGCCCTAGGGGCTCGGATCGCCGCGCGCTCGCCGCTCGCCCGCC
AGCCCGCCCGTGGTCCGTGGCGGCGCGCTCCACCCGGCACGGGGAGGCGCGGGGCGCACCATGG
CCGCAGACACGCCGGGGAAACCGAGCGCCTCGCCGATGGCAGGAGCGCCGGCCAGCGCCAGCCG
GACCCCAGACAAGCCCCGGAGCGCGGCCGAGCACCGCAAGTCCTCCAAGCCGGTCATGGAGAAG
CGGCGCCGAGCGCGTATTAACGAGAGCCTCGCTCAGCTCAAAACCCTCATCCTGGACGCCCTCA
GAAAAGAGAGCTCCCGCCACTCGAAGCTGGAGAAGGCGGACATCCTGGAGATGACCGTGAGACA
CCTGCGGAGCCTGCGTCGCGTGCAGGTGACGGCCGCGCTCAGCGCCGACCCCGCCGTTCTGGGC
AAGTACCGCGCCGGCTTCCACGAGTGTCTGGCGGAGGTGAACCGCTTCCTGGCCGGCTGCGAGG
GCGTCCCGGCCGACGTGCGCTCCCGCCTGCTGGGCCACCTGGCAGCCTGCCTGCGCCAGCTGGG
ACCCTCCCGCCGCCCGGCCTCGCTGTCCCCGGCTGCCCCCGCAGAGGCCCCAGCGCCCGAGGTC
TACGCGGGCCGCCCGCTGCTGCCATCGCTCGGCGGCCCCTTCCCTCTGCTCGCGCCGCCGCTGC
TGCCGGGTCTGACCCGGGCGCTGCCCGCCGCCCCCAGGGCGGGGCCGCAGGGCCCGGGTGGGCC
CTGGAGGCCGTGGCTGCGCTGAGGCTGTGGCCCTGAGACTGCATCGGAGGCGGCGCCCCGTTCT
AGGGCCGTGGCCTTTGCCGAGACTGTAGCAGAGAAAACGTATTTATTATTCCA

hide sequence

RefSeq Acc Id:

XM_047426314 ⟹ XP_047282270

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	998,964 - 1,000,097 (-)	NCBI

RefSeq Acc Id:

XM_047426320 ⟹ XP_047282276

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	998,964 - 1,000,097 (-)	NCBI

RefSeq Acc Id:

XM_054337930 ⟹ XP_054193905

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	429,119 - 430,252 (-)	NCBI

RefSeq Acc Id:

XM_054337931 ⟹ XP_054193906

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	429,119 - 430,252 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001135939	(Get FASTA)	NCBI Sequence Viewer
	NP_001397629	(Get FASTA)	NCBI Sequence Viewer
	NP_066993	(Get FASTA)	NCBI Sequence Viewer
	XP_047282270	(Get FASTA)	NCBI Sequence Viewer
	XP_047282276	(Get FASTA)	NCBI Sequence Viewer
	XP_054193905	(Get FASTA)	NCBI Sequence Viewer
	XP_054193906	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH12351	(Get FASTA)	NCBI Sequence Viewer
	BAB13510	(Get FASTA)	NCBI Sequence Viewer
	CBX47571	(Get FASTA)	NCBI Sequence Viewer
	EAW56296	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000304595
	ENSP00000304595.7
	ENSP00000393198
	ENSP00000393198.2
	ENSP00000425085
	ENSP00000425085.1
GenBank Protein	Q9HCC6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_066993 ⟸ NM_021170
- Peptide Label:	isoform 2
- UniProtKB:	Q5SVA5 (UniProtKB/Swiss-Prot), Q9HCC6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTLILDA LRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSADPAVLGKYRAGFHECLAEVNRFLAGC EGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAEAPAPEVYAGRPLLPSLGGPFPLLAPP LLPGLTRALPAAPRAGPQGPGGPWRPWLR hide sequence

RefSeq Acc Id:	NP_001135939 ⟸ NM_001142467
- Peptide Label:	isoform 1
- UniProtKB:	E9PB28 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKVGSRPGVRGATGGREGRGTQPVPDPQSS KPVMEKRRRARINESLAQLKTLILDALRKESSRHSKLEKADILEMTVRHLRSLRRVQVTAALSA DPAVLGKYRAGFHECLAEVNRFLAGCEGVPADVRSRLLGHLAACLRQLGPSRRPASLSPAAPAE APAPEVYAGRPLLPSLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR hide sequence

RefSeq Acc Id:

ENSP00000393198 ⟸ ENST00000428771

RefSeq Acc Id:

ENSP00000425085 ⟸ ENST00000484667

RefSeq Acc Id:

ENSP00000304595 ⟸ ENST00000304952

RefSeq Acc Id:	XP_047282276 ⟸ XM_047426320
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047282270 ⟸ XM_047426314
- Peptide Label:	isoform X1

RefSeq Acc Id:	NP_001397629 ⟸ NM_001410700
- Peptide Label:	isoform 3
- UniProtKB:	D6REB3 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193906 ⟸ XM_054337931
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054193905 ⟸ XM_054337930
- Peptide Label:	isoform X1

Protein Domains

bHLH Orange

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9HCC6-F1-model_v2	AlphaFold	Q9HCC6	1-221	view protein structure

Promoters

RGD ID:

6785716

Promoter ID:

HG_KWN:105

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_021170, OTTHUMT00000097945, OTTHUMT00000097946

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	925,276 - 926,352 (-)	MPROMDB

RGD ID:

6853682

Promoter ID:

EPDNEW_H5

Type:

initiation region

Name:

HES4_1

Description:

hes family bHLH transcription factor 4

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,000,097 - 1,000,157	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24149	AgrOrtholog
COSMIC	HES4	COSMIC
Ensembl Genes	ENSG00000188290	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000304952	ENTREZGENE
	ENST00000304952.11	UniProtKB/Swiss-Prot
	ENST00000428771	ENTREZGENE
	ENST00000428771.6	UniProtKB/TrEMBL
	ENST00000484667	ENTREZGENE
	ENST00000484667.2	UniProtKB/TrEMBL
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.250.980	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000188290	GTEx
HGNC ID	HGNC:24149	ENTREZGENE
Human Proteome Map	HES4	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:57801	UniProtKB/Swiss-Prot
NCBI Gene	57801	ENTREZGENE
OMIM	608060	OMIM
PANTHER	BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, HES-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRANSCRIPTION FACTOR HES-4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Hairy_orange	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134975318	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ORANGE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HLH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ORANGE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Orange domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47459	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	D6REB3	ENTREZGENE, UniProtKB/TrEMBL
	E9PB28	ENTREZGENE, UniProtKB/TrEMBL
	HES4_HUMAN	UniProtKB/Swiss-Prot
	Q5SVA5	ENTREZGENE
	Q9HCC6	ENTREZGENE
UniProt Secondary	Q5SVA5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-10-22	HES4	hes family bHLH transcription factor 4		hairy and enhancer of split 4 (Drosophila)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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