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Gene: MYT1 (myelin transcription factor 1) Homo sapiens

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Symbol:

MYT1

Name:

myelin transcription factor 1

RGD ID:

1312603

HGNC Page

HGNC:7622

Description:

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including diaphragm development; regulation of gene expression; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in cytosol and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C20orf36; MTF1; myelin transcription factor I; MYTI; neural zinc finger transcription factor 2; NZF2; PLPB1; proteolipid protein binding protein; proteolipid protein-binding protein; ZC2H2C1; ZC2HC4A

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Myt1 (myelin transcription factor 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Myt1 (myelin transcription factor 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Myt1 (myelin transcription factor 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MYT1 (myelin transcription factor 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	MYT1 (myelin transcription factor 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Myt1 (myelin transcription factor 1)	NCBI	Ortholog
Sus scrofa (pig):	MYT1 (myelin transcription factor 1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	MYT1 (myelin transcription factor 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Myt1 (myelin transcription factor 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Myt1l (myelin transcription factor 1-like)	HGNC	OrthoMCL
Mus musculus (house mouse):	St18 (suppression of tumorigenicity 18)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Myt1 (myelin transcription factor 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Myt1 (myelin transcription factor 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	myt1a (myelin transcription factor 1a)	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	myt1b (myelin transcription factor 1b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG43689	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER)
Caenorhabditis elegans (roundworm):	ztf-11	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector)
Xenopus laevis (African clawed frog):	myt1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	myt1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	myt1.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	20	64,164,452 - 64,242,253 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	64,102,394 - 64,242,253 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	62,795,805 - 62,873,606 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	62,266,271 - 62,344,050 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	62,266,270 - 62,344,048	NCBI
Celera	20	59,480,507 - 59,558,438 (+)	NCBI		Celera
Cytogenetic Map	20	q13.33	NCBI
HuRef	20	59,521,605 - 59,598,530 (+)	NCBI		HuRef
CHM1_1	20	62,696,840 - 62,774,541 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	65,983,955 - 66,063,029 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MYT1	Human	autism spectrum disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:30504930
MYT1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
MYT1	Human	hereditary spastic paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia	ClinVar
MYT1	Human	intellectual disability		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MYT1	Human	(S)-colchicine	increases phosphorylation	EXP		6480464	Colchicine results in increased phosphorylation of MYT1 protein	CTD	PMID:16611024
MYT1	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of MYT1 mRNA	CTD	PMID:17268063
MYT1	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	Myt1 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
MYT1	Human	2,2',5,5'-tetrachlorobiphenyl	multiple interactions	ISO	Myt1 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
MYT1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Myt1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of MYT1 mRNA	CTD	PMID:24058054
MYT1	Human	2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one	increases expression	ISO	Myt1 (Mus musculus)	6480464	Itraconazole results in increased expression of MYT1 mRNA	CTD	PMID:31099283
MYT1	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of MYT1 mRNA	CTD	PMID:21179406
MYT1	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	Myt1 (Mus musculus)	6480464	bisphenol S results in decreased expression of MYT1 mRNA	CTD	PMID:30951980
MYT1	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	Myt1 (Mus musculus)	6480464	bisphenol S affects the methylation of MYT1 gene	CTD	PMID:31683443
MYT1	Human	4,4'-sulfonyldiphenol	increases methylation	ISO	Myt1 (Mus musculus)	6480464	bisphenol S results in increased methylation of MYT1 exon	CTD	PMID:33297965
MYT1	Human	6-propyl-2-thiouracil	increases expression	ISO	Myt1 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of MYT1 mRNA	CTD	PMID:24780913
MYT1	Human	acrylamide	decreases expression	ISO	Myt1 (Rattus norvegicus)	6480464	Acrylamide results in decreased expression of MYT1 mRNA	CTD	PMID:28959563
MYT1	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of MYT1 gene	CTD	PMID:27153756
MYT1	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of MYT1 intron	CTD	PMID:30157460
MYT1	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of MYT1 intron	CTD	PMID:30157460
MYT1	Human	all-trans-retinoic acid	increases expression	ISO	Myt1 (Mus musculus)	6480464	Tretinoin results in increased expression of MYT1 mRNA	CTD	PMID:16169686
MYT1	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of MYT1 mRNA	CTD	PMID:33212167
MYT1	Human	arsenite(3-)	increases methylation	EXP		6480464	arsenite results in increased methylation of MYT1 promoter	CTD	PMID:23974009
MYT1	Human	atrazine	affects methylation	ISO	Myt1 (Rattus norvegicus)	6480464	Atrazine affects the methylation of MYT1 gene	CTD	PMID:35440735
MYT1	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of MYT1 mRNA	CTD	PMID:16120219
MYT1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of MYT1 5' UTR more ...	CTD	PMID:27901495 and PMID:30157460
MYT1	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of MYT1 intron	CTD	PMID:30157460
MYT1	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of MYT1 mRNA	CTD	PMID:17268063
MYT1	Human	bisphenol A	decreases expression	ISO	Myt1 (Mus musculus)	6480464	bisphenol A results in decreased expression of MYT1 mRNA	CTD	PMID:32156529
MYT1	Human	bisphenol A	affects methylation	ISO	Myt1 (Mus musculus)	6480464	bisphenol A affects the methylation of MYT1 promoter	CTD	PMID:27334623
MYT1	Human	bisphenol A	decreases expression	ISO	Myt1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of MYT1 mRNA	CTD	PMID:25181051
MYT1	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of MYT1 mRNA	CTD	PMID:26079696
MYT1	Human	butanal	increases methylation	EXP		6480464	butyraldehyde results in increased methylation of MYT1 gene	CTD	PMID:30002397
MYT1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to MYT1 gene]	CTD	PMID:28238834
MYT1	Human	copper atom	multiple interactions	ISO	Myt1 (Rattus norvegicus)	6480464	[Copper co-treated with Dietary Sucrose] results in increased expression of MYT1 mRNA	CTD	PMID:26033743
MYT1	Human	copper atom	increases expression	ISO	Myt1 (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of MYT1 mRNA	CTD	PMID:26033743
MYT1	Human	copper(0)	multiple interactions	ISO	Myt1 (Rattus norvegicus)	6480464	[Copper co-treated with Dietary Sucrose] results in increased expression of MYT1 mRNA	CTD	PMID:26033743
MYT1	Human	copper(0)	increases expression	ISO	Myt1 (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of MYT1 mRNA	CTD	PMID:26033743
MYT1	Human	cryptolepine	decreases expression	EXP		6480464	cryptolepine results in decreased expression of MYT1 mRNA	CTD	PMID:16120219
MYT1	Human	Cuprizon	increases expression	ISO	Myt1 (Rattus norvegicus)	6480464	Cuprizone results in increased expression of MYT1 mRNA	CTD	PMID:26577399
MYT1	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MYT1 mRNA	CTD	PMID:27188386
MYT1	Human	doxorubicin	increases phosphorylation	ISO	Myt1 (Mus musculus)	6480464	Doxorubicin results in increased phosphorylation of MYT1 protein	CTD	PMID:15861398
MYT1	Human	etoposide	decreases expression	EXP		6480464	Etoposide results in decreased expression of MYT1 mRNA	CTD	PMID:16120219
MYT1	Human	folic acid	decreases expression	ISO	Myt1 (Mus musculus)	6480464	Folic Acid results in decreased expression of MYT1 mRNA	CTD	PMID:25629700
MYT1	Human	heptanal	increases methylation	EXP		6480464	heptanal results in increased methylation of MYT1 gene	CTD	PMID:30002397
MYT1	Human	hexanal	increases methylation	EXP		6480464	n-hexanal results in increased methylation of MYT1 gene	CTD	PMID:30002397
MYT1	Human	itraconazole	increases expression	ISO	Myt1 (Mus musculus)	6480464	Itraconazole results in increased expression of MYT1 mRNA	CTD	PMID:31099283
MYT1	Human	ketoconazole	increases expression	ISO	Myt1 (Mus musculus)	6480464	Ketoconazole results in increased expression of MYT1 mRNA	CTD	PMID:31099283
MYT1	Human	lead(0)	decreases expression	EXP		6480464	Lead results in decreased expression of MYT1 mRNA	CTD	PMID:19921347
MYT1	Human	lead(0)	affects expression	EXP		6480464	Lead affects the expression of MYT1 mRNA	CTD	PMID:28903495
MYT1	Human	methamphetamine	decreases expression	ISO	Myt1 (Rattus norvegicus)	6480464	Methamphetamine results in decreased expression of MYT1 mRNA	CTD	PMID:19564919
MYT1	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of MYT1 intron	CTD	PMID:30157460
MYT1	Human	N-ethyl-N-nitrosourea	decreases expression	ISO	Myt1 (Mus musculus)	6480464	Ethylnitrosourea results in decreased expression of MYT1 protein	CTD	PMID:28549617
MYT1	Human	naphthalene	increases expression	ISO	Myt1 (Mus musculus)	6480464	naphthalene results in increased expression of MYT1 mRNA	CTD	PMID:18978301
MYT1	Human	nocodazole	increases phosphorylation	EXP		6480464	Nocodazole results in increased phosphorylation of MYT1 protein	CTD	PMID:16611024
MYT1	Human	nonanal	increases methylation	EXP		6480464	nonanal results in increased methylation of MYT1 gene	CTD	PMID:30002397
MYT1	Human	octanal	increases methylation	EXP		6480464	caprylic aldehyde results in increased methylation of MYT1 gene	CTD	PMID:30002397
MYT1	Human	ozone	multiple interactions	ISO	Myt1 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of Ozone] which results in decreased expression of MYT1 mRNA	CTD	PMID:27106289
MYT1	Human	PCB138	multiple interactions	ISO	Myt1 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
MYT1	Human	pentanal	increases expression	EXP		6480464	pentanal results in increased expression of MYT1 mRNA	CTD	PMID:26079696
MYT1	Human	pentanal	increases methylation	EXP		6480464	pentanal results in increased methylation of MYT1 gene	CTD	PMID:30002397
MYT1	Human	permethrin	increases expression	EXP		6480464	Permethrin results in increased expression of MYT1 mRNA	CTD	PMID:37047231
MYT1	Human	phenylmercury acetate	decreases expression	EXP		6480464	Phenylmercuric Acetate results in decreased expression of MYT1 mRNA	CTD	PMID:26272509
MYT1	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MYT1 mRNA	CTD	PMID:27188386
MYT1	Human	propanal	increases expression	EXP		6480464	propionaldehyde results in increased expression of MYT1 mRNA	CTD	PMID:26079696
MYT1	Human	propanal	increases methylation	EXP		6480464	propionaldehyde results in increased methylation of MYT1 gene	CTD	PMID:30002397
MYT1	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MYT1 mRNA	CTD	PMID:27188386
MYT1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of MYT1 mRNA	CTD	PMID:29301061 and PMID:32844245
MYT1	Human	sodium arsenite	decreases expression	ISO	Myt1 (Mus musculus)	6480464	sodium arsenite results in decreased expression of MYT1 mRNA	CTD	PMID:36209798
MYT1	Human	sodium arsenite	increases methylation	EXP		6480464	sodium arsenite results in increased methylation of MYT1 intron	CTD	PMID:32844245
MYT1	Human	Soman	decreases expression	ISO	Myt1 (Rattus norvegicus)	6480464	Soman results in decreased expression of MYT1 mRNA	CTD	PMID:19281266
MYT1	Human	triptonide	increases expression	ISO	Myt1 (Mus musculus)	6480464	triptonide results in increased expression of MYT1 mRNA	CTD	PMID:33045310
MYT1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of MYT1 mRNA	CTD	PMID:25979313
MYT1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of MYT1 gene	CTD	PMID:29154799
MYT1	Human	vorinostat	decreases expression	EXP		6480464	vorinostat results in decreased expression of MYT1 mRNA	CTD	PMID:27188386

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MYT1	Human	cell differentiation	involved_in	IEA	UniProtKB-KW:KW-0221	150520179		UniProt	GO_REF:0000043
MYT1	Human	diaphragm development	acts_upstream_of_or_within	ISO	MGI:3765054	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	endocrine pancreas development	acts_upstream_of_or_within	ISO	Myt1 (Mus musculus)	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	intracellular glucose homeostasis	acts_upstream_of_or_within	ISO	Myt1 (Mus musculus)	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	negative regulation of gene expression	acts_upstream_of_or_within	ISO	Myt1 (Mus musculus)	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	nervous system development	involved_in	IEA	UniProtKB-KW:KW-0524	150520179		UniProt	GO_REF:0000043
MYT1	Human	positive regulation of gene expression	acts_upstream_of_or_within	ISO	Myt1 (Mus musculus)	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	positive regulation of transcription by RNA polymerase II	involved_in	ISO	Myt1 (Mus musculus)	9068941	PMID:17442045	NTNU_SB	PMID:17442045
MYT1	Human	post-embryonic development	acts_upstream_of_or_within	ISO	MGI:3765054	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	regulation of DNA-templated transcription	involved_in	NAS		150520179	PMID:1280325	UniProt	PMID:1280325
MYT1	Human	regulation of DNA-templated transcription	involved_in	IEA	InterPro:IPR002515 and InterPro:IPR036060	150520179		InterPro	GO_REF:0000002
MYT1	Human	regulation of hormone metabolic process	acts_upstream_of_or_within	ISO	MGI:3765054	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	regulation of insulin secretion involved in cellular response to glucose stimulus	acts_upstream_of_or_within	ISO	Myt1 (Mus musculus)	9068941	PMID:17928203	MGI	PMID:17928203
MYT1	Human	regulation of transcription by RNA polymerase II	involved_in	IEA	GO:0000981	150520179		GOC	GO_REF:0000108

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MYT1	Human	chromatin	located_in	ISA	tfclass:2.7.1	150520179		NTNU_SB	GO_REF:0000113
MYT1	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
MYT1	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
MYT1	Human	nucleus	located_in	NAS		150520179	PMID:1280325	UniProt	PMID:1280325
MYT1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
MYT1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
MYT1	Human	nucleus	located_in	IEA	InterPro:IPR002515 and InterPro:IPR036060	150520179		InterPro	GO_REF:0000002

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MYT1	Human	cis-regulatory region sequence-specific DNA binding	enables	ISO	Myt1 (Mus musculus)	9068941	PMID:17442045	MGI	PMID:17442045
MYT1	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
MYT1	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	ISO	Myt1 (Mus musculus)	9068941	PMID:17442045	NTNU_SB	PMID:17442045
MYT1	Human	DNA-binding transcription factor activity	enables	NAS		150520179	PMID:1280325	UniProt	PMID:1280325
MYT1	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	ISA	tfclass:2.7.1	150520179		NTNU_SB	GO_REF:0000113
MYT1	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
MYT1	Human	protein binding	enables	ISO	PR:Q62141-2 more ...	9068941	PMID:15935060	MGI	PMID:15935060
MYT1	Human	RNA polymerase II transcription regulatory region sequence-specific DNA binding	enables	ISO	Myt1 (Mus musculus)	9068941	PMID:17442045	NTNU_SB	PMID:17442045
MYT1	Human	zinc ion binding	enables	NAS		150520179	PMID:1280325	UniProt	PMID:1280325
MYT1	Human	zinc ion binding	enables	IEA	InterPro:IPR002515 and InterPro:IPR036060	150520179		InterPro	GO_REF:0000002
MYT1	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MYT1	Human	Autistic behavior		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:30504930
MYT1	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
MYT1	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
MYT1	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
MYT1	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:1280325	PMID:7519254	PMID:8530187	PMID:9373037	PMID:10048485	PMID:10470851	PMID:10504341	PMID:11780052	PMID:12477932	PMID:12524179	PMID:14962745	PMID:15935060
PMID:17330875	PMID:18029348	PMID:18950845	PMID:19204086	PMID:19274049	PMID:21873635	PMID:22792062	PMID:23146904	PMID:28218735	PMID:28611215	PMID:28612832	PMID:29291346
PMID:30021884	PMID:30312684	PMID:30595380	PMID:32251364	PMID:32871052	PMID:33880880	PMID:33961781	PMID:34011236	PMID:34079125

MYT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	64,164,452 - 64,242,253 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	64,102,394 - 64,242,253 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	62,795,805 - 62,873,606 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	62,266,271 - 62,344,050 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	62,266,270 - 62,344,048	NCBI
Celera	20	59,480,507 - 59,558,438 (+)	NCBI		Celera
Cytogenetic Map	20	q13.33	NCBI
HuRef	20	59,521,605 - 59,598,530 (+)	NCBI		HuRef
CHM1_1	20	62,696,840 - 62,774,541 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	65,983,955 - 66,063,029 (+)	NCBI		T2T-CHM13v2.0

Myt1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	181,405,099 - 181,469,579 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	181,405,125 - 181,469,590 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	181,763,332 - 181,827,775 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	181,763,332 - 181,827,797 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	181,498,037 - 181,562,480 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	181,696,448 - 181,757,174 (+)	NCBI		MGSCv36	mm8
Celera	2	185,838,883 - 185,903,600 (+)	NCBI		Celera
Cytogenetic Map	2	H4	NCBI
cM Map	2	103.77	NCBI

Myt1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	189,263,569 - 189,327,844 (+)	NCBI		GRCr8
mRatBN7.2	3	168,890,466 - 168,950,341 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	168,886,089 - 168,950,341 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	173,296,066 - 173,326,848 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	182,255,163 - 182,285,949 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	178,920,491 - 178,951,261 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	177,281,365 - 177,341,550 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	177,310,753 - 177,341,547 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	180,989,537 - 181,049,955 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	170,954,769 - 170,985,583 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	170,827,281 - 170,891,617 (+)	NCBI
Celera	3	163,640,239 - 163,671,029 (-)	NCBI		Celera
Cytogenetic Map	3	q43	NCBI

Myt1
(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_004955528	47,800 - 112,114 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955528	48,198 - 108,293 (-)	NCBI	ChiLan1.0	ChiLan1.0

MYT1
(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	21	69,986,961 - 70,067,209 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	69,978,970 - 70,059,221 (+)	NCBI		NHGRI_mPanPan1
PanPan1.1	20	62,081,231 - 62,153,741 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	62,108,924 - 62,151,936 (+)	Ensembl	panpan1.1		panPan2

MYT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	47,574,201 - 47,639,962 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	47,574,255 - 47,638,315 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	46,711,804 - 46,773,586 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	48,717,427 - 48,779,220 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	48,713,529 - 48,779,222 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	47,562,006 - 47,623,774 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	47,686,311 - 47,748,092 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	48,425,706 - 48,487,543 (+)	NCBI		UU_Cfam_GSD_1.0

Myt1
(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_024408640	195,852,513 - 195,914,291 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936514	11,308,071 - 11,368,801 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936514	11,305,929 - 11,367,935 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MYT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	62,979,350 - 63,014,696 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	62,955,052 - 63,020,652 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

MYT1
(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	2	59,574 - 96,113 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	61,371 - 96,583 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	47,439,664 - 47,531,211 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Myt1
(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_004624741	29,775,504 - 29,837,606 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624741	29,779,177 - 29,837,606 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in MYT1
133 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe)	single nucleotide variant	Autism spectrum disorder [RCV001291443]	Chr20:64219879 [GRCh38] Chr20:62851232 [GRCh37] Chr20:20q13.33	association
GRCh38/hg38 20q13.33(chr20:64157529-64277321)x3	copy number gain	See cases [RCV000050839]	Chr20:64157529..64277321 [GRCh38] Chr20:62788882..62908674 [GRCh37] Chr20:62259326..62379118 [NCBI36] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	copy number gain	Global developmental delay [RCV000051131]\|See cases [RCV000051131]	Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:64140190-64277321)x3	copy number gain	See cases [RCV000052795]	Chr20:64140190..64277321 [GRCh38] Chr20:62771543..62908674 [GRCh37] Chr20:62241987..62379118 [NCBI36] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	copy number loss	See cases [RCV000052769]	Chr20:62545370..64241486 [GRCh38] Chr20:61142577..62872839 [GRCh37] Chr20:60553022..62343283 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]\|See cases [RCV000052772]	Chr20:63441478..64277321 [GRCh38] Chr20:62072831..62908674 [GRCh37] Chr20:61543275..62379118 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1	copy number loss	See cases [RCV000052774]	Chr20:64206685..64261836 [GRCh38] Chr20:62838038..62893189 [GRCh37] Chr20:62308482..62363633 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
NM_004535.2(MYT1):c.-99+4321C>A	single nucleotide variant	Lung cancer [RCV000101740]	Chr20:64169060 [GRCh38] Chr20:62800413 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:64197187-64277321)x3	copy number gain	See cases [RCV000133644]	Chr20:64197187..64277321 [GRCh38] Chr20:62828540..62908674 [GRCh37] Chr20:62298984..62379118 [NCBI36] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	copy number gain	See cases [RCV000051131]	Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:64130783-64277321)x3	copy number gain	See cases [RCV000133797]	Chr20:64130783..64277321 [GRCh38] Chr20:62762136..62908674 [GRCh37] Chr20:62232580..62379118 [NCBI36] Chr20:20q13.33	benign
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	copy number loss	See cases [RCV000133842]	Chr20:62561794..64277321 [GRCh38] Chr20:61211869..62908674 [GRCh37] Chr20:60569446..62379118 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:64197187-64317737)x3	copy number gain	See cases [RCV000135262]	Chr20:64197187..64317737 [GRCh38] Chr20:62828540..62949090 [GRCh37] Chr20:62298984..62419534 [NCBI36] Chr20:20q13.33	likely benign
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	copy number gain	See cases [RCV000135805]	Chr20:59041966..64277321 [GRCh38] Chr20:57617021..62908674 [GRCh37] Chr20:57050416..62379118 [NCBI36] Chr20:20q13.32-13.33	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	copy number loss	See cases [RCV000135514]	Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33	likely pathogenic
GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	copy number loss	See cases [RCV000136499]	Chr20:64023324..64261777 [GRCh38] Chr20:62654677..62893130 [GRCh37] Chr20:62125121..62363574 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	copy number loss	See cases [RCV000137385]	Chr20:63153963..64277321 [GRCh38] Chr20:61785315..62908674 [GRCh37] Chr20:61255760..62379118 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	copy number gain	See cases [RCV000138035]	Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	copy number gain	See cases [RCV000139100]	Chr20:61326549..64277326 [GRCh38] Chr20:59901605..62908679 [GRCh37] Chr20:59335000..62379123 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	copy number gain	See cases [RCV000141347]	Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	copy number loss	See cases [RCV000141744]	Chr20:62582073..64284202 [GRCh38] Chr20:61179280..62915555 [GRCh37] Chr20:60589725..62385999 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	copy number gain	See cases [RCV000141762]	Chr20:63385523..64270639 [GRCh38] Chr20:62016875..62901992 [GRCh37] Chr20:61487319..62372436 [NCBI36] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	copy number loss	See cases [RCV000141676]	Chr20:62663307..64284202 [GRCh38] Chr20:61294659..62915555 [GRCh37] Chr20:60765104..62385999 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:64177078-64277326)x3	copy number gain	See cases [RCV000142506]	Chr20:64177078..64277326 [GRCh38] Chr20:62808431..62908679 [GRCh37] Chr20:62278875..62379123 [NCBI36] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	copy number gain	See cases [RCV000143584]	Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	copy number loss	See cases [RCV000240214]	Chr20:61827144..62907526 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	copy number loss	not provided [RCV000488148]	Chr20:61337529..62904501 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	copy number loss	See cases [RCV000446096]	Chr20:61827144..62907467 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3	copy number gain	See cases [RCV000446009]	Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:62731576-62907467)x3	copy number gain	See cases [RCV000448100]	Chr20:62731576..62907467 [GRCh37] Chr20:20q13.33	benign
GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	copy number loss	See cases [RCV000510189]	Chr20:61884113..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	copy number gain	See cases [RCV000511980]	Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62762392-62915555)x3	copy number gain	See cases [RCV000511294]	Chr20:62762392..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2137T>A (p.Ser713Thr)	single nucleotide variant	Inborn genetic diseases [RCV003292544]	Chr20:64219878 [GRCh38] Chr20:62851231 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1916G>A (p.Arg639His)	single nucleotide variant	Inborn genetic diseases [RCV003275875]	Chr20:64218980 [GRCh38] Chr20:62850333 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:62603908-62857300)x1	copy number loss	See cases [RCV000512532]	Chr20:62603908..62857300 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	copy number loss	not provided [RCV000684126]	Chr20:62002369..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_004535.3(MYT1):c.655G>C (p.Glu219Gln)	single nucleotide variant	Intellectual disability [RCV001252334]	Chr20:64207851 [GRCh38] Chr20:62839204 [GRCh37] Chr20:20q13.33	likely benign
GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	copy number loss	not provided [RCV000684123]	Chr20:62090403..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62766314-62915555)x1	copy number loss	not provided [RCV000684102]	Chr20:62766314..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3	copy number gain	not provided [RCV000741328]	Chr20:60053234..62961294 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3	copy number gain	not provided [RCV000741329]	Chr20:60063645..62961294 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62764228-62961294)x3	copy number gain	not provided [RCV000741404]	Chr20:62764228..62961294 [GRCh37] Chr20:20q13.33	benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_004535.3(MYT1):c.1095C>T (p.Asp365=)	single nucleotide variant	not provided [RCV000976590]	Chr20:64208291 [GRCh38] Chr20:62839644 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.55+10G>A	single nucleotide variant	MYT1-related disorder [RCV003926188]\|not provided [RCV000962840]	Chr20:64198926 [GRCh38] Chr20:62830279 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.1807A>G (p.Lys603Glu)	single nucleotide variant	not provided [RCV003314124]	Chr20:64217242 [GRCh38] Chr20:62848595 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1285A>G (p.Ser429Gly)	single nucleotide variant	not provided [RCV000904210]	Chr20:64208481 [GRCh38] Chr20:62839834 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.717C>T (p.Ser239=)	single nucleotide variant	not provided [RCV000982762]	Chr20:64207913 [GRCh38] Chr20:62839266 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.3249C>T (p.Cys1083=)	single nucleotide variant	MYT1-related disorder [RCV003910802]\|not provided [RCV000904452]	Chr20:64240331 [GRCh38] Chr20:62871684 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.783C>T (p.Asp261=)	single nucleotide variant	MYT1-related disorder [RCV003923078]\|not provided [RCV000906239]	Chr20:64207979 [GRCh38] Chr20:62839332 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1992C>T (p.Asp664=)	single nucleotide variant	not provided [RCV000924262]	Chr20:64219733 [GRCh38] Chr20:62851086 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1662C>T (p.Val554=)	single nucleotide variant	not provided [RCV000983322]	Chr20:64217097 [GRCh38] Chr20:62848450 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1071C>A (p.His357Gln)	single nucleotide variant	MYT1-related disorder [RCV003913239]\|not provided [RCV000948076]	Chr20:64208267 [GRCh38] Chr20:62839620 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.1959C>T (p.Asp653=)	single nucleotide variant	MYT1-related disorder [RCV003922970]\|not provided [RCV000901210]	Chr20:64219023 [GRCh38] Chr20:62850376 [GRCh37] Chr20:20q13.33	benign
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	copy number loss	not provided [RCV001007103]	Chr20:61152321..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_004535.3(MYT1):c.438C>T (p.Ile146=)	single nucleotide variant	not provided [RCV000925049]	Chr20:64207634 [GRCh38] Chr20:62838987 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2649C>T (p.Asp883=)	single nucleotide variant	MYT1-related disorder [RCV003935943]\|not provided [RCV000961232]	Chr20:64227945 [GRCh38] Chr20:62859298 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_004535.3(MYT1):c.315G>A (p.Ser105=)	single nucleotide variant	MYT1-related disorder [RCV003926124]\|not provided [RCV000960316]	Chr20:64205718 [GRCh38] Chr20:62837071 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_004535.3(MYT1):c.2856C>T (p.Asp952=)	single nucleotide variant	not provided [RCV000917684]	Chr20:64232344 [GRCh38] Chr20:62863697 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.903A>G (p.Glu301=)	single nucleotide variant	not provided [RCV000918744]	Chr20:64208099 [GRCh38] Chr20:62839452 [GRCh37] Chr20:20q13.33	likely benign
GRCh37/hg19 20q13.33(chr20:62770505-62825339)x1	copy number loss	not provided [RCV000846217]	Chr20:62770505..62825339 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.468C>A (p.Ser156Arg)	single nucleotide variant	Inborn genetic diseases [RCV003245982]\|MYT1-related disorder [RCV003906684]	Chr20:64207664 [GRCh38] Chr20:62839017 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_004535.3(MYT1):c.2138C>A (p.Ser713Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003292545]	Chr20:64219879 [GRCh38] Chr20:62851232 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.87-6C>T	single nucleotide variant	not provided [RCV001715938]	Chr20:64205029 [GRCh38] Chr20:62836382 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.2664C>T (p.Pro888=)	single nucleotide variant	MYT1-related disorder [RCV003923150]\|not provided [RCV000911005]	Chr20:64227960 [GRCh38] Chr20:62859313 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_004535.3(MYT1):c.2760C>T (p.Ala920=)	single nucleotide variant	MYT1-related disorder [RCV003930702]\|not provided [RCV000887909]	Chr20:64232248 [GRCh38] Chr20:62863601 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_004535.3(MYT1):c.2592C>T (p.Ser864=)	single nucleotide variant	not provided [RCV000887292]	Chr20:64227888 [GRCh38] Chr20:62859241 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.865G>A (p.Glu289Lys)	single nucleotide variant	MYT1-related disorder [RCV003940557]\|not provided [RCV000886690]	Chr20:64208061 [GRCh38] Chr20:62839414 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_004535.3(MYT1):c.807GGA[4] (p.Glu273del)	microsatellite	MYT1-related disorder [RCV003972826]\|not provided [RCV000964395]	Chr20:64208001..64208003 [GRCh38] Chr20:62839354..62839356 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.477C>T (p.Ser159=)	single nucleotide variant	MYT1-related disorder [RCV003913003]\|not provided [RCV000910383]	Chr20:64207673 [GRCh38] Chr20:62839026 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.3285C>T (p.Thr1095=)	single nucleotide variant	not provided [RCV000926749]	Chr20:64240367 [GRCh38] Chr20:62871720 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.891AGAGGA[2] (p.Glu305_Glu306del)	microsatellite	MYT1-related disorder [RCV003912994]\|not provided [RCV000909609]	Chr20:64208082..64208087 [GRCh38] Chr20:62839435..62839440 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.384C>T (p.Pro128=)	single nucleotide variant	MYT1-related disorder [RCV003910565]\|not provided [RCV000890041]	Chr20:64205787 [GRCh38] Chr20:62837140 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2985C>T (p.Ser995=)	single nucleotide variant	not provided [RCV000912115]	Chr20:64236642 [GRCh38] Chr20:62867995 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.409G>A (p.Val137Ile)	single nucleotide variant	not provided [RCV000913676]	Chr20:64207605 [GRCh38] Chr20:62838958 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.1623G>T (p.Arg541=)	single nucleotide variant	MYT1-related disorder [RCV003910580]\|not provided [RCV000890844]	Chr20:64213639 [GRCh38] Chr20:62844992 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.1941C>T (p.Leu647=)	single nucleotide variant	not provided [RCV001640844]	Chr20:64219005 [GRCh38] Chr20:62850358 [GRCh37] Chr20:20q13.33	benign
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	copy number gain	not provided [RCV002473575]	Chr20:60621074..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.346G>A (p.Glu116Lys)	single nucleotide variant	Intellectual disability [RCV001252335]	Chr20:64205749 [GRCh38] Chr20:62837102 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2460C>A (p.Ser820Arg)	single nucleotide variant	Intellectual disability [RCV001252336]	Chr20:64223291 [GRCh38] Chr20:62854644 [GRCh37] Chr20:20q13.33	likely benign
GRCh37/hg19 20q13.33(chr20:62678394-62884479)x3	copy number gain	not provided [RCV001007105]	Chr20:62678394..62884479 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3	copy number gain	not provided [RCV001258915]	Chr20:62576747..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	copy number loss	not provided [RCV001258914]	Chr20:61975605..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln)	single nucleotide variant	Intellectual disability [RCV001261388]	Chr20:64207986 [GRCh38] Chr20:62839339 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	copy number gain	not provided [RCV001537917]	Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33	pathogenic
NM_004535.3(MYT1):c.2126C>T (p.Ala709Val)	single nucleotide variant	Hereditary spastic paraplegia [RCV001376697]	Chr20:64219867 [GRCh38] Chr20:62851220 [GRCh37] Chr20:20q13.33	affects
NM_004535.3(MYT1):c.2095G>A (p.Asp699Asn)	single nucleotide variant	Inborn genetic diseases [RCV003275319]	Chr20:64219836 [GRCh38] Chr20:62851189 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61038552-62907579)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786557]	Chr20:61038552..62907579 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61273854-62907579)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786556]	Chr20:61273854..62907579 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61003263-62915555)	copy number loss	not specified [RCV002052717]	Chr20:61003263..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	copy number loss	not provided [RCV001834246]	Chr20:61775756..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)	copy number gain	not specified [RCV002052714]	Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61619222-62915555)	copy number loss	not specified [RCV002052718]	Chr20:61619222..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	copy number gain	not specified [RCV002052713]	Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33	pathogenic
NM_004535.3(MYT1):c.3214G>A (p.Ala1072Thr)	single nucleotide variant	Inborn genetic diseases [RCV003255933]	Chr20:64239880 [GRCh38] Chr20:62871233 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.789G>C (p.Glu263Asp)	single nucleotide variant	Inborn genetic diseases [RCV002772801]	Chr20:64207985 [GRCh38] Chr20:62839338 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.673G>A (p.Val225Ile)	single nucleotide variant	Inborn genetic diseases [RCV002682352]	Chr20:64207869 [GRCh38] Chr20:62839222 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1795A>G (p.Met599Val)	single nucleotide variant	Inborn genetic diseases [RCV002859929]	Chr20:64217230 [GRCh38] Chr20:62848583 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.229C>T (p.His77Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002683994]	Chr20:64205632 [GRCh38] Chr20:62836985 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.290C>T (p.Thr97Ile)	single nucleotide variant	Inborn genetic diseases [RCV002696360]	Chr20:64205693 [GRCh38] Chr20:62837046 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1438C>T (p.His480Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002822736]	Chr20:64212059 [GRCh38] Chr20:62843412 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1973C>G (p.Ser658Cys)	single nucleotide variant	Inborn genetic diseases [RCV002869478]	Chr20:64219714 [GRCh38] Chr20:62851067 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.437T>C (p.Ile146Thr)	single nucleotide variant	Inborn genetic diseases [RCV002757987]	Chr20:64207633 [GRCh38] Chr20:62838986 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.432C>A (p.Asn144Lys)	single nucleotide variant	Inborn genetic diseases [RCV002869238]	Chr20:64207628 [GRCh38] Chr20:62838981 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2984G>A (p.Ser995Asn)	single nucleotide variant	Inborn genetic diseases [RCV002949924]	Chr20:64236641 [GRCh38] Chr20:62867994 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1929G>A (p.Met643Ile)	single nucleotide variant	Inborn genetic diseases [RCV002888508]	Chr20:64218993 [GRCh38] Chr20:62850346 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.3191G>A (p.Ser1064Asn)	single nucleotide variant	Inborn genetic diseases [RCV002798770]	Chr20:64239857 [GRCh38] Chr20:62871210 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1076G>A (p.Arg359Gln)	single nucleotide variant	Inborn genetic diseases [RCV002661981]	Chr20:64208272 [GRCh38] Chr20:62839625 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1858T>C (p.Ser620Pro)	single nucleotide variant	Inborn genetic diseases [RCV002822147]	Chr20:64218922 [GRCh38] Chr20:62850275 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2083G>A (p.Val695Met)	single nucleotide variant	Inborn genetic diseases [RCV002691348]	Chr20:64219824 [GRCh38] Chr20:62851177 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.692G>T (p.Arg231Leu)	single nucleotide variant	Inborn genetic diseases [RCV002891805]	Chr20:64207888 [GRCh38] Chr20:62839241 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.784G>A (p.Glu262Lys)	single nucleotide variant	Inborn genetic diseases [RCV002875090]	Chr20:64207980 [GRCh38] Chr20:62839333 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1687A>G (p.Asn563Asp)	single nucleotide variant	Inborn genetic diseases [RCV002934152]	Chr20:64217122 [GRCh38] Chr20:62848475 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.244G>C (p.Ala82Pro)	single nucleotide variant	Inborn genetic diseases [RCV002878840]	Chr20:64205647 [GRCh38] Chr20:62837000 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.583G>A (p.Val195Met)	single nucleotide variant	Inborn genetic diseases [RCV002768931]	Chr20:64207779 [GRCh38] Chr20:62839132 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.3278C>A (p.Thr1093Asn)	single nucleotide variant	Inborn genetic diseases [RCV002718973]	Chr20:64240360 [GRCh38] Chr20:62871713 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2081G>A (p.Gly694Asp)	single nucleotide variant	Inborn genetic diseases [RCV002680344]	Chr20:64219822 [GRCh38] Chr20:62851175 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1583A>C (p.Gln528Pro)	single nucleotide variant	Inborn genetic diseases [RCV002814170]	Chr20:64213599 [GRCh38] Chr20:62844952 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1913C>T (p.Thr638Met)	single nucleotide variant	Inborn genetic diseases [RCV003208203]	Chr20:64218977 [GRCh38] Chr20:62850330 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.125G>A (p.Arg42Gln)	single nucleotide variant	Inborn genetic diseases [RCV003188755]	Chr20:64205073 [GRCh38] Chr20:62836426 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.379C>T (p.Arg127Cys)	single nucleotide variant	Inborn genetic diseases [RCV003174871]	Chr20:64205782 [GRCh38] Chr20:62837135 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.253G>A (p.Glu85Lys)	single nucleotide variant	Inborn genetic diseases [RCV003178933]	Chr20:64205656 [GRCh38] Chr20:62837009 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1709G>A (p.Arg570Lys)	single nucleotide variant	Inborn genetic diseases [RCV003262235]	Chr20:64217144 [GRCh38] Chr20:62848497 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2537C>T (p.Thr846Met)	single nucleotide variant	Inborn genetic diseases [RCV003309508]	Chr20:64227423 [GRCh38] Chr20:62858776 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	copy number gain	See cases [RCV003329549]	Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33	uncertain significance
NM_004535.3(MYT1):c.232C>G (p.Pro78Ala)	single nucleotide variant	Inborn genetic diseases [RCV003369805]	Chr20:64205635 [GRCh38] Chr20:62836988 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	copy number loss	not provided [RCV003483370]	Chr20:62347562..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.873A>G (p.Glu291=)	single nucleotide variant	not provided [RCV003440520]	Chr20:64208069 [GRCh38] Chr20:62839422 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.817G>A (p.Glu273Lys)	single nucleotide variant	not provided [RCV003440519]	Chr20:64208013 [GRCh38] Chr20:62839366 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1059C>T (p.Asp353=)	single nucleotide variant	MYT1-related disorder [RCV003939533]	Chr20:64208255 [GRCh38] Chr20:62839608 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2739C>T (p.Ser913=)	single nucleotide variant	MYT1-related disorder [RCV003972321]	Chr20:64232227 [GRCh38] Chr20:62863580 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.2130C>T (p.Pro710=)	single nucleotide variant	MYT1-related disorder [RCV003952236]	Chr20:64219871 [GRCh38] Chr20:62851224 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.436A>G (p.Ile146Val)	single nucleotide variant	Inborn genetic diseases [RCV004460477]	Chr20:64207632 [GRCh38] Chr20:62838985 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.861GGA[3] (p.Glu306del)	microsatellite	MYT1-related disorder [RCV003916951]	Chr20:64208055..64208057 [GRCh38] Chr20:62839408..62839410 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2835C>T (p.Thr945=)	single nucleotide variant	MYT1-related disorder [RCV003954380]	Chr20:64232323 [GRCh38] Chr20:62863676 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.117G>A (p.Gly39=)	single nucleotide variant	MYT1-related disorder [RCV003971682]	Chr20:64205065 [GRCh38] Chr20:62836418 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.46G>T (p.Ala16Ser)	single nucleotide variant	Inborn genetic diseases [RCV004460486]	Chr20:64198907 [GRCh38] Chr20:62830260 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.976C>T (p.Pro326Ser)	single nucleotide variant	Inborn genetic diseases [RCV004460511]	Chr20:64208172 [GRCh38] Chr20:62839525 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.3213C>T (p.Leu1071=)	single nucleotide variant	MYT1-related disorder [RCV003976600]	Chr20:64239879 [GRCh38] Chr20:62871232 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.*305G>T	single nucleotide variant	MYT1-related disorder [RCV003969662]	Chr20:64240753 [GRCh38] Chr20:62872106 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2345C>G (p.Thr782Ser)	single nucleotide variant	MYT1-related disorder [RCV003919720]	Chr20:64221996 [GRCh38] Chr20:62853349 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.235C>T (p.Leu79=)	single nucleotide variant	MYT1-related disorder [RCV003973962]	Chr20:64205638 [GRCh38] Chr20:62836991 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2796G>A (p.Ser932=)	single nucleotide variant	MYT1-related disorder [RCV003922227]	Chr20:64232284 [GRCh38] Chr20:62863637 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.3057G>A (p.Ser1019=)	single nucleotide variant	MYT1-related disorder [RCV003924005]	Chr20:64237354 [GRCh38] Chr20:62868707 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.216C>T (p.Ser72=)	single nucleotide variant	MYT1-related disorder [RCV003947096]	Chr20:64205619 [GRCh38] Chr20:62836972 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1869C>T (p.Ala623=)	single nucleotide variant	MYT1-related disorder [RCV003924022]	Chr20:64218933 [GRCh38] Chr20:62850286 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1866C>T (p.Asp622=)	single nucleotide variant	MYT1-related disorder [RCV003964290]	Chr20:64218930 [GRCh38] Chr20:62850283 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1161G>C (p.Leu387=)	single nucleotide variant	MYT1-related disorder [RCV003919601]	Chr20:64208357 [GRCh38] Chr20:62839710 [GRCh37] Chr20:20q13.33	benign
NM_004535.3(MYT1):c.192C>T (p.Gly64=)	single nucleotide variant	MYT1-related disorder [RCV003929546]	Chr20:64205595 [GRCh38] Chr20:62836948 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2868C>T (p.His956=)	single nucleotide variant	MYT1-related disorder [RCV003946862]	Chr20:64232356 [GRCh38] Chr20:62863709 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.886G>A (p.Glu296Lys)	single nucleotide variant	Inborn genetic diseases [RCV004369785]\|MYT1-related disorder [RCV003922126]	Chr20:64208082 [GRCh38] Chr20:62839435 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_004535.3(MYT1):c.397+10C>T	single nucleotide variant	MYT1-related disorder [RCV003909571]	Chr20:64205810 [GRCh38] Chr20:62837163 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.412A>G (p.Lys138Glu)	single nucleotide variant	MYT1-related disorder [RCV003916891]	Chr20:64207608 [GRCh38] Chr20:62838961 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.1007C>T (p.Pro336Leu)	single nucleotide variant	Inborn genetic diseases [RCV004458280]	Chr20:64208203 [GRCh38] Chr20:62839556 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1039C>T (p.Arg347Cys)	single nucleotide variant	Inborn genetic diseases [RCV004458285]	Chr20:64208235 [GRCh38] Chr20:62839588 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1100C>T (p.Ser367Leu)	single nucleotide variant	Inborn genetic diseases [RCV004458291]	Chr20:64208296 [GRCh38] Chr20:62839649 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1124G>A (p.Arg375Gln)	single nucleotide variant	Inborn genetic diseases [RCV004458297]	Chr20:64208320 [GRCh38] Chr20:62839673 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.254A>G (p.Glu85Gly)	single nucleotide variant	Inborn genetic diseases [RCV004460457]	Chr20:64205657 [GRCh38] Chr20:62837010 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	copy number gain	20q13.13qter duplication [RCV004555205]	Chr20:50805746..64334135 [GRCh38] Chr20:20q13.13-13.33	pathogenic
NM_004535.3(MYT1):c.3130G>A (p.Glu1044Lys)	single nucleotide variant	Inborn genetic diseases [RCV004460463]	Chr20:64239796 [GRCh38] Chr20:62871149 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2119A>G (p.Thr707Ala)	single nucleotide variant	Inborn genetic diseases [RCV004460427]	Chr20:64219860 [GRCh38] Chr20:62851213 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2170C>T (p.Arg724Cys)	single nucleotide variant	Inborn genetic diseases [RCV004460440]	Chr20:64219911 [GRCh38] Chr20:62851264 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2261C>G (p.Ser754Cys)	single nucleotide variant	Inborn genetic diseases [RCV004460443]	Chr20:64221912 [GRCh38] Chr20:62853265 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.112T>G (p.Ser38Ala)	single nucleotide variant	Inborn genetic diseases [RCV004458302]	Chr20:64205060 [GRCh38] Chr20:62836413 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1915C>T (p.Arg639Cys)	single nucleotide variant	Inborn genetic diseases [RCV004458328]	Chr20:64218979 [GRCh38] Chr20:62850332 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2356C>A (p.Leu786Met)	single nucleotide variant	Inborn genetic diseases [RCV004646064]	Chr20:64222007 [GRCh38] Chr20:62853360 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1177C>T (p.Arg393Cys)	single nucleotide variant	Inborn genetic diseases [RCV004652141]	Chr20:64208373 [GRCh38] Chr20:62839726 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1580C>T (p.Pro527Leu)	single nucleotide variant	Inborn genetic diseases [RCV004652142]	Chr20:64213596 [GRCh38] Chr20:62844949 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1859C>T (p.Ser620Leu)	single nucleotide variant	Inborn genetic diseases [RCV004652143]	Chr20:64218923 [GRCh38] Chr20:62850276 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1843C>A (p.Gln615Lys)	single nucleotide variant	Inborn genetic diseases [RCV004652144]	Chr20:64217278 [GRCh38] Chr20:62848631 [GRCh37] Chr20:20q13.33	likely benign
NM_004535.3(MYT1):c.2059A>G (p.Ser687Gly)	single nucleotide variant	Inborn genetic diseases [RCV004652145]	Chr20:64219800 [GRCh38] Chr20:62851153 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.3286G>A (p.Asp1096Asn)	single nucleotide variant	Inborn genetic diseases [RCV004652146]	Chr20:64240368 [GRCh38] Chr20:62871721 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.713A>G (p.Gln238Arg)	single nucleotide variant	Inborn genetic diseases [RCV004652148]	Chr20:64207909 [GRCh38] Chr20:62839262 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.3016C>A (p.Gln1006Lys)	single nucleotide variant	Inborn genetic diseases [RCV004959268]	Chr20:64237313 [GRCh38] Chr20:62868666 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.973G>T (p.Ala325Ser)	single nucleotide variant	Inborn genetic diseases [RCV004959272]	Chr20:64208169 [GRCh38] Chr20:62839522 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1682G>A (p.Arg561Gln)	single nucleotide variant	Inborn genetic diseases [RCV004959274]	Chr20:64217117 [GRCh38] Chr20:62848470 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.113C>T (p.Ser38Leu)	single nucleotide variant	Inborn genetic diseases [RCV004959275]	Chr20:64205061 [GRCh38] Chr20:62836414 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.724G>A (p.Asp242Asn)	single nucleotide variant	Inborn genetic diseases [RCV004959269]	Chr20:64207920 [GRCh38] Chr20:62839273 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.901G>A (p.Glu301Lys)	single nucleotide variant	Inborn genetic diseases [RCV004959273]	Chr20:64208097 [GRCh38] Chr20:62839450 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2204C>G (p.Thr735Ser)	single nucleotide variant	Inborn genetic diseases [RCV004959276]	Chr20:64219945 [GRCh38] Chr20:62851298 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.277G>A (p.Gly93Ser)	single nucleotide variant	Inborn genetic diseases [RCV004959265]	Chr20:64205680 [GRCh38] Chr20:62837033 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1177C>G (p.Arg393Gly)	single nucleotide variant	Inborn genetic diseases [RCV004959266]	Chr20:64208373 [GRCh38] Chr20:62839726 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2347A>G (p.Asn783Asp)	single nucleotide variant	Inborn genetic diseases [RCV004959267]	Chr20:64221998 [GRCh38] Chr20:62853351 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.2189G>A (p.Arg730Gln)	single nucleotide variant	Inborn genetic diseases [RCV004959264]	Chr20:64219930 [GRCh38] Chr20:62851283 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.1249G>A (p.Ala417Thr)	single nucleotide variant	Inborn genetic diseases [RCV004959270]	Chr20:64208445 [GRCh38] Chr20:62839798 [GRCh37] Chr20:20q13.33	uncertain significance
NM_004535.3(MYT1):c.3220A>G (p.Ile1074Val)	single nucleotide variant	Inborn genetic diseases [RCV004959271]	Chr20:64239886 [GRCh38] Chr20:62871239 [GRCh37] Chr20:20q13.33	uncertain significance

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR27A	hsa-miR-27a-3p	Mirtarbase	external_info	Western blot//Luciferase reporter assay	Functional MTI	18006846
MIR27A	hsa-miR-27a-3p	Tarbase	external_info	Other	POSITIVE

Predicted Target Of

	Summary Value
Count of predictions:	1609
Count of miRNA genes:	619
Interacting mature miRNAs:	699
Transcripts:	ENST00000328439, ENST00000360149, ENST00000536311
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597114438	GWAS1210512_H	tea consumption measurement QTL GWAS1210512 (human)		4e-08	tea consumption measurement	drink intake measurement (CMO:0000771)	20	64227340	64227341	Human
2292864	PRSTS43_H	Prostate tumor susceptibility QTL 43 (human)	0.62	0.05	Prostate tumor susceptibility		20	47303039	64444167	Human
597275643	GWAS1371717_H	educational attainment QTL GWAS1371717 (human)		5e-10	educational attainment		20	64208357	64208358	Human
597275645	GWAS1371719_H	educational attainment QTL GWAS1371719 (human)		3e-10	educational attainment		20	64224768	64224769	Human
597108991	GWAS1205065_H	self reported educational attainment QTL GWAS1205065 (human)		6e-09	self reported educational attainment		20	64208357	64208358	Human
597161247	GWAS1257321_H	amino acid measurement QTL GWAS1257321 (human)		0.0000009	amino acid measurement		20	64241152	64241153	Human
597161838	GWAS1257912_H	X-11423--O-sulfo-L-tyrosine measurement QTL GWAS1257912 (human)		0.000005	X-11423--O-sulfo-L-tyrosine measurement		20	64241152	64241153	Human
597214050	GWAS1310124_H	mathematical ability QTL GWAS1310124 (human)		2e-08	mathematical ability		20	64208357	64208358	Human
597160733	GWAS1256807_H	amino acid measurement QTL GWAS1256807 (human)		0.000003	amino acid measurement		20	64241152	64241153	Human
596976974	GWAS1096493_H	body height QTL GWAS1096493 (human)		4e-09	body height		20	64199449	64199450	Human
597346917	GWAS1442991_H	diverticular disease QTL GWAS1442991 (human)		7e-09	diverticular disease		20	64216933	64216934	Human

RH10656

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	62,873,338 - 62,873,523	UniSTS	GRCh37
Build 36	20	62,343,782 - 62,343,967	RGD	NCBI36
Celera	20	59,558,170 - 59,558,355	RGD
Cytogenetic Map	20	q13.33	UniSTS
HuRef	20	59,598,262 - 59,598,447	UniSTS

SHGC-144519

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	62,852,417 - 62,852,731	UniSTS	GRCh37
Build 36	20	62,322,861 - 62,323,175	RGD	NCBI36
Celera	20	59,537,249 - 59,537,563	RGD
Cytogenetic Map	20	q13.33	UniSTS
HuRef	20	59,577,337 - 59,577,651	UniSTS

Z94630

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	62,846,847 - 62,846,926	UniSTS	GRCh37
Build 36	20	62,317,291 - 62,317,370	RGD	NCBI36
Celera	20	59,531,710 - 59,531,789	RGD
Cytogenetic Map	20	q13.33	UniSTS
HuRef	20	59,571,850 - 59,571,929	UniSTS

RH104288

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	62,858,802 - 62,859,373	UniSTS	GRCh37
Celera	20	59,543,634 - 59,544,205	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
HuRef	20	59,583,722 - 59,584,293	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
961	2248	2109	1679	4776	1581	2029	1	445	1653	331	1941	5931	5241	36	3520	697	1584	1436	120	1


RefSeq Transcripts	NM_004535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB020642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053638	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M96980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000328439 ⟹ ENSP00000327465

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,164,452 - 64,242,253 (+)	Ensembl

Ensembl Acc Id:

ENST00000360149 ⟹ ENSP00000353269

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,151,791 - 64,228,100 (+)	Ensembl

Ensembl Acc Id:

ENST00000536311 ⟹ ENSP00000442412

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,164,474 - 64,242,251 (+)	Ensembl

Ensembl Acc Id:

ENST00000610671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,164,612 - 64,191,884 (+)	Ensembl

Ensembl Acc Id:

ENST00000622439 ⟹ ENSP00000480510

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,164,474 - 64,228,035 (+)	Ensembl

Ensembl Acc Id:

ENST00000644172 ⟹ ENSP00000493561

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,102,394 - 64,198,916 (+)	Ensembl

Ensembl Acc Id:

ENST00000650655 ⟹ ENSP00000498616

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,164,566 - 64,242,248 (+)	Ensembl

Ensembl Acc Id:

ENST00000659024 ⟹ ENSP00000499493

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	64,102,394 - 64,228,102 (+)	Ensembl

RefSeq Acc Id:

NM_004535 ⟹ NP_004526

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	64,164,452 - 64,242,253 (+)	NCBI
GRCh37	20	62,795,827 - 62,873,606 (+)	ENTREZGENE
Build 36	20	62,266,271 - 62,344,050 (+)	NCBI Archive
HuRef	20	59,521,605 - 59,598,530 (+)	ENTREZGENE
CHM1_1	20	62,696,840 - 62,774,541 (+)	NCBI
T2T-CHM13v2.0	20	65,983,955 - 66,063,029 (+)	NCBI

Sequence:

show sequence

AGCGTATTTACAAAGGAGCCTCCTCCGCCAGCCCGTGCCACCGCTGCTAATGAGAGCAGTCATTAAGTAAATGAGACGTCGCCTTTAGCTGGCTTAGGAGTTCGCACACTAAGGGGAGAAGATATTTA
ATTGAAACCCGCACGCAGGCTTCCCCACATGTGACCGCTGTACGGGAGGCAGCTGCCTTCCCTCTCCTCCCCCAGTCCACCCTGCACCCCCCATGTAAATTTCATGATTGCTTTCCGTGATGTCATTT
TGAAAGAGGACAGACAATAGCTGTGGGGAAAGAAAATGAGTTCCGAGGTGAGCTGTTAAATCAGAGGTGGACACACGGAGGCAAGGCCAGCAGCTGCAGGACCTCAAGACACCTGGGCAGACACTGCA
AGATGAGCTTAGAAAATGAAGACAAGCGAGCTCGCACCCGATCCAAGGCCCTGCGAGGACCCCCAGAGACCACAGCTGCAGACCTCAGCTGCCCCACCCCAGGATGCACAGGCTCAGGGCACGTCCGG
GGCAAGTACTCCAGGCACCGAAGTTTACAGAGCTGCCCCCTGGCCAAGAAGAGGAAGCTGGAGGGCGCTGAGGCTGAGCACCTGGTGTCCAAGAGGAAGTCACACCCCCTGAAGCTGGCTCTGGACGA
GGGCTATGGTGTGGACAGCGACGGCAGTGAGGACACTGAGGTGAAGGACGCCTCTGTTTCGGATGAATCGGAAGGAACTCTGGAGGGGGCCGAGGCTGAGACGTCAGGACAGGACGAGATTCATCGCC
CCGAGACAGCTGAAGGAAGGAGCCCCGTCAAGTCCCATTTTGGATCCAACCCCATCGGCAGCGCCACTGCCTCCTCCAAGGGCAGCTACAGCAGCTACCAGGGAATCATCGCAACTTCTCTCCTGAAC
TTGGGTCAAATTGCTGAAGAGACCCTGGTGGAAGAGGACTTGGGCCAGGCGGCCAAGCCAGGTCCTGGCATTGTGCACCTGCTTCAGGAGGCTGCAGAGGGAGCTGCCAGCGAGGAGGGTGAAAAGGG
CCTCTTCATCCAGCCAGAGGATGCCGAGGAGGTCGTCGAAGTCACCACCGAGCGCTCCCAGGACCTGTGTCCCCAGTCCCTGGAGGATGCAGCCAGTGAGGAGTCCAGCAAGCAGAAAGGCATCCTGA
GTCACGAAGAGGAGGACGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGATGAAGAAGAGGAAGAGGAAGAGGAGGAGGAAGAGGAAGAGGAGGAGGAGGAAGAGGAAGAGGAGGAGGAAGAG
GAAGAGGAAGAGGAGGAGGAGGAGGCAGCTCCTGATGTGATCTTTCAGGAAGACACCTCTCACACCTCTGCCCAGAAGGCCCCTGAGCTCCGGGGCCCAGAATCACCCAGTCCCAAGCCTGAGTACTC
TGTTATTGTGGAGGTCCGCTCGGATGATGACAAGGACGAGGACACCCACTCCCGGAAGTCAACAGTCACTGACGAGTCGGAGATGCAGGACATGATGACCCGGGGAAACCTGGGCCTCCTGGAGCAGG
CCATCGCCCTGAAGGCTGAACAGGTGCGCACAGTCTGCGAGCCGGGCTGCCCGCCTGCCGAGCAGAGCCAGCTGGGCCTGGGAGAGCCAGGGAAGGCAGCAAAGCCCCTGGACACTGTGCGGAAGAGT
TACTACAGTAAAGATCCTTCAAGAGCTGAGAAGCGTGAGATCAAGTGTCCAACACCAGGCTGTGATGGCACTGGCCACGTTACCGGGTTGTACCCTCACCACCGCAGCCTTTCTGGCTGTCCCCACAA
GGATAGGATCCCCCCAGAGATCTTAGCCATGCATGAGAACGTGCTGAAGTGCCCCACTCCTGGCTGCACAGGCCAGGGTCACGTGAACAGCAACCGCAACACGCACAGAAGTTTGTCTGGGTGTCCCA
TTGCTGCCGCCGAAAAATTAGCCAAATCCCATGAGAAGCAGCAGCCGCAGACAGGAGATCCTTCCAAGAGTAGCTCCAATTCCGATCGGATCCTCAGGCCCATGTGCTTCGTGAAGCAGCTCGAGGTC
CCTCCATATGGGAGCTACCGGCCCAACGTGGCCCCCGCCACACCCAGGGCCAACTTGGCCAAGGAGCTGGAGAAGTTCTCCAAGGTCACCTTTGACTACGCAAGTTTCGATGCTCAGGTTTTTGGCAA
ACGCATGCTTGCCCCAAAGATTCAGACCAGCGAAACCTCACCTAAAGCCTTTCAATGCTTTGACTACTCGCAGGACGCCGAGGCTGCACACATGGCTGCCACTGCCATCCTGAACCTCTCCACGCGCT
GCTGGGAGATGCCTGAGAACCTCAGCACGAAGCCACAGGACCTCCCCAGCAAGTCTGTGGATATCGAGGTAGACGAAAATGGAACCCTGGACTTGAGCATGCACAAACACCGCAAACGAGAAAATGCT
TTCCCCAGCAGCAGCAGCTGCAGCAGCAGCCCCGGTGTGAAGTCTCCCGACGCCTCCCAGCGCCACAGCAGCACCAGCGCCCCCAGCAGCTCCATGACCTCTCCCCAGTCCAGCCAGGCCTCCCGCCA
GGACGAGTGGGACCGGCCCCTGGACTACACCAAGCCTAGCCGCCTGAGAGAGGAGGAACCTGAGGAGTCAGAGCCAGCAGCCCATTCTTTTGCTTCTTCTGAAGCAGATGACCAGGAAGTGTCGGAAG
AGAATTTTGAGGAGCGGAAGTATCCGGGGGAAGTCACCCTGACCAACTTTAAGCTGAAGTTTCTCTCCAAGGACATAAAGAAGGAGCTGCTCACCTGTCCCACCCCTGGCTGTGACGGCAGCGGCCAC
ATCACCGGGAACTACGCCTCCCACCGCAGCCTCTCTGGTTGCCCTCTTGCTGACAAGAGCCTCAGAAACCTCATGGCTGCCCACTCTGCTGACCTCAAGTGCCCCACGCCCGGCTGTGACGGCTCTGG
CCACATCACAGGGAACTACGCTTCACACCGGAGCTTGTCCGGCTGCCCTCGTGCAAAGAAAAGTGGAGTCAAGGTGGCACCCACCAAGGACGACAAGGAGGACCCCGAGCTGATGAAGTGCCCAGTTC
CAGGCTGTGTGGGGCTCGGTCACATCAGCGGGAAATACGCCTCTCACAGGAGCGCATCCGGCTGCCCACTGGCCGCCCGCAGGCAGAAGGAAGGGTCCCTCAATGGCTCGTCATTCTCCTGGAAGTCC
CTGAAGAATGAAGGACCGACCTGCCCCACCCCGGGCTGTGACGGCTCTGGCCACGCCAATGGGAGTTTCCTCACCCACCGGAGTTTGTCAGGCTGTCCCAGAGCAACCTTTGCTGGAAAGAAGGGAAA
ACTGTCAGGGGATGAGGTCCTCAGTCCAAAGTTCAAGACTAGCGACGTGTTGGAGAATGATGAGGAGATCAAGCAGCTGAACCAGGAGATCCGAGACCTGAACGAGTCCAACTCGGAGATGGAGGCTG
CCATGGTGCAGCTGCAGTCCCAGATCTCCTCCATGGAGAAGAACCTGAAGAACATCGAGGAGGAGAACAAGCTCATTGAGGAGCAGAATGAAGCCCTGTTTCTGGAGCTGTCCGGCCTGAGCCAGGCC
CTCATCCAAAGTCTCGCCAATATCCGCCTTCCGCACATGGAGCCAATATGCGAACAGAATTTCGATGCCTATGTGAGCACCCTCACCGACATGTACTCCAACCAGGACCCGGAGAACAAGGACCTCCT
GGAGAGCATCAAGCAGGCTGTGAGGGGCATCCAGGTCTAGGCCGTGTGGTACCCAGAAGTGTCCCAGCCCACCACACCGTTTACCTCCCTCGCCCTGCCCCGCACCGTGGGGATGCCCAACTCACAGT
GACTTCCCGTTTGGGGCCCGGTGTGGCCGCGGGCGGGTTTATCCAAAGGGATGGCTGGAAATTGGCCGCTCCCACGAGGCTCCCTCCAGGCTTGGGGCCGTGGTGGCCCTATCTGTGTGCATAGGGGC
ACTGAAGAATTACAAAGTGATTTATTTTTGTTTTCTGAAAGAAATCTGAAGAGCAGCTCAAAGTCTCCAGTGGAAGCTCATGGACAAGGTTCTCAGGGAAGTTTTGGAGTTTGCAACCACAGTATTCC
TTTGTCTGTCGAGGCTGGGAGGGTAGCCGTGAGCGTGGTGGGTGGGTGGTGTGAGTGGCATCTTGGCCTGGAGGACACGCCTGGGGCAGCGTGTCTGTGCTCAGTGAGGGCCGATGAAGAAAGTGCGT
TTTCTGTTTTCATTTAATTCAGTTTTGTGTTAAGGGTGGAACAAAGCTCTGTTCTAGAGGGAAAGTTAGGAATAGGCCTCCCAGAGGATACTCCAGACAGTTGACAAGCATCGCAGCCCCTGTCAGGT
CAAGGAATTTTAACCTGGGAGACTCCTGAAAATCAGCCTAATGTCTGGGGGCAGCTGGCGCTGAGGCTGTGCAGATGTGTATGGCCTTGGGTCACAGCTCCCTACTGGGGCTGCAGCCTTTAGACCCT
GGGTCTGGGATCCACGTCTAGGGACCACTCTGGCTTCTGTGCATCCACCCAGGCCCCCGACCCATCACTGCCACATTCTCCGGGTCATGGCCGAGCTTGACCTCTGCATCCATGGTGACGGAGGTGGC
AATGACATCATCAAGGTCAGAGGGTAAATTCCTAACAGGAGACCACAAAGGTTTCACTTCTTTTAGATCCATCCAATATGCGAAAAAAGGGTACATTTTAATTTAATGTGTTAAAAACACAATGTCCC
TACCGTGTAAATAGAATCCAAGTCAATTGTGACTGCAATTCCAAGTTAGTATTTAAAAATAGAGAAATTGCACTTCCTGGAAAAAATTAAAAAGTAGTTAGTTTAATTATTCTGTAAATTATTTAATT
TTGTCAAGATGTAAGTATTTATATTCACAGCCTCTTATGTTAACGTTTGCTATTTATTTAACATTTTTATTTATTAATTTTATACTATTTCAACTAGACCCCACACCAGGGCACCCTAAGAGGGGAAA
AAAGTGAATTCAAAGCAAAAATAACTATTTGACTATAATATAGGCCACAAAAAATCTTGATATAACTCCTAGTTATAATTTTGATGCAACCAAGTTATTTTTTATATATTTTGTTATTTATTCTTTTA
ATAATGGAATTTTTTTAAAAAGTATTTTGTAACTGAGGAATTTTGATAATTTGGGGATTTTGTTTTCCCTTGGTCTAATGGAGAGAAAGACATTTTGGTTTTCTTTTTCCATTTTGGGTTCCTTTTGT
TTCAGGCACGGATAACAGCAAATGGAATTCTGTATTTATTATTATTTAAGTGTAGCGCAGATGTGTGTGCTTGGGCGTGTTTCTCGTGTCGCGTTTGCGTGTCGGCTCTTGCGGTGGAGTCCTGTTGC
TGTGAGGGAGTGCTGGCCGCAGGCAGCCTCGAGTCACCGCCAGGCTCACAGGCTGTGCCACCCGTCCCTCCGACAGCTCCAATACTGTGACCCTCCTTCCTCAGGAAGCGCGTTGAACCCACAGCACT
CCGTGGTGTGTTTGCAGGGTGATTTCCTAATAAAAGTCCACTCTGACTGTGAA

hide sequence


Protein RefSeqs	NP_004526	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA59897	(Get FASTA)	NCBI Sequence Viewer
	AAH53638	(Get FASTA)	NCBI Sequence Viewer
	AAH62313	(Get FASTA)	NCBI Sequence Viewer
	BAA74858	(Get FASTA)	NCBI Sequence Viewer
	EAW75155	(Get FASTA)	NCBI Sequence Viewer
	EAW75157	(Get FASTA)	NCBI Sequence Viewer
	EAW75158	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000327465
	ENSP00000327465.1
	ENSP00000442412.1
	ENSP00000477771.2
	ENSP00000483021.1
	ENSP00000498616.1
GenBank Protein	Q01538	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_004526 ⟸ NM_004535

- UniProtKB:

Q7Z5W2 (UniProtKB/Swiss-Prot), O94922 (UniProtKB/Swiss-Prot), F5H7M8 (UniProtKB/Swiss-Prot), E1P5H0 (UniProtKB/Swiss-Prot), Q9UPV2 (UniProtKB/Swiss-Prot), Q01538 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSLENEDKRARTRSKALRGPPETTAADLSCPTPGCTGSGHVRGKYSRHRSLQSCPLAKKRKLEGAEAEHLVSKRKSHPLKLALDEGYGVDSDGSEDTEVKDASVSDESEGTLEGAEAETSGQDEIHRP
ETAEGRSPVKSHFGSNPIGSATASSKGSYSSYQGIIATSLLNLGQIAEETLVEEDLGQAAKPGPGIVHLLQEAAEGAASEEGEKGLFIQPEDAEEVVEVTTERSQDLCPQSLEDAASEESSKQKGILS
HEEEDEEEEEEEEEEEEDEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEAAPDVIFQEDTSHTSAQKAPELRGPESPSPKPEYSVIVEVRSDDDKDEDTHSRKSTVTDESEMQDMMTRGNLGLLEQA
IALKAEQVRTVCEPGCPPAEQSQLGLGEPGKAAKPLDTVRKSYYSKDPSRAEKREIKCPTPGCDGTGHVTGLYPHHRSLSGCPHKDRIPPEILAMHENVLKCPTPGCTGQGHVNSNRNTHRSLSGCPI
AAAEKLAKSHEKQQPQTGDPSKSSSNSDRILRPMCFVKQLEVPPYGSYRPNVAPATPRANLAKELEKFSKVTFDYASFDAQVFGKRMLAPKIQTSETSPKAFQCFDYSQDAEAAHMAATAILNLSTRC
WEMPENLSTKPQDLPSKSVDIEVDENGTLDLSMHKHRKRENAFPSSSSCSSSPGVKSPDASQRHSSTSAPSSSMTSPQSSQASRQDEWDRPLDYTKPSRLREEEPEESEPAAHSFASSEADDQEVSEE
NFEERKYPGEVTLTNFKLKFLSKDIKKELLTCPTPGCDGSGHITGNYASHRSLSGCPLADKSLRNLMAAHSADLKCPTPGCDGSGHITGNYASHRSLSGCPRAKKSGVKVAPTKDDKEDPELMKCPVP
GCVGLGHISGKYASHRSASGCPLAARRQKEGSLNGSSFSWKSLKNEGPTCPTPGCDGSGHANGSFLTHRSLSGCPRATFAGKKGKLSGDEVLSPKFKTSDVLENDEEIKQLNQEIRDLNESNSEMEAA
MVQLQSQISSMEKNLKNIEEENKLIEEQNEALFLELSGLSQALIQSLANIRLPHMEPICEQNFDAYVSTLTDMYSNQDPENKDLLESIKQAVRGIQV

hide sequence

Ensembl Acc Id:

ENSP00000480510 ⟸ ENST00000622439

Ensembl Acc Id:

ENSP00000353269 ⟸ ENST00000360149

Ensembl Acc Id:

ENSP00000498616 ⟸ ENST00000650655

Ensembl Acc Id:

ENSP00000442412 ⟸ ENST00000536311

Protein Domains

Myelin transcription factor

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q01538-F1-model_v2	AlphaFold	Q01538	1-1121	view protein structure

RGD ID:

6812063

Promoter ID:

HG_ACW:50101

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

MYT1.EAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	62,322,861 - 62,323,361 (+)	MPROMDB

RGD ID:

13602490

Promoter ID:

EPDNEW_H27429

Type:

initiation region

Name:

MYT1_1

Description:

myelin transcription factor 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27428 EPDNEW_H27430

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	64,164,452 - 64,164,512	EPDNEW

RGD ID:

13602492

Promoter ID:

EPDNEW_H27430

Type:

initiation region

Name:

MYT1_3

Description:

myelin transcription factor 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27428 EPDNEW_H27429

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	64,164,606 - 64,164,666	EPDNEW

Database	Acc Id	Source(s)
COSMIC	MYT1	COSMIC
Ensembl Genes	ENSG00000196132	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000276876	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000328439	ENTREZGENE
	ENST00000328439.6	UniProtKB/Swiss-Prot
	ENST00000536311.5	UniProtKB/Swiss-Prot
	ENST00000613234.3	UniProtKB/Swiss-Prot
	ENST00000616648.2	UniProtKB/Swiss-Prot
	ENST00000650655.1	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.320.30	UniProtKB/Swiss-Prot
GTEx	ENSG00000196132	GTEx
	ENSG00000276876	GTEx
HGNC ID	HGNC:7622	ENTREZGENE
Human Proteome Map	MYT1	Human Proteome Map
InterPro	Myelin_TF	UniProtKB/Swiss-Prot
	Znf_C2H2C	UniProtKB/Swiss-Prot
	Znf_C2H2C_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:4661	UniProtKB/Swiss-Prot
NCBI Gene	4661	ENTREZGENE
OMIM	600379	OMIM
PANTHER	MYELIN TRANSCRIPTION FACTOR 1-LIKE PROTEIN	UniProtKB/Swiss-Prot
	MYELIN TRANSCRIPTION FACTOR 1-RELATED	UniProtKB/Swiss-Prot
Pfam	MYT1	UniProtKB/Swiss-Prot
	zf-C2HC	UniProtKB/Swiss-Prot
PharmGKB	PA31426	PharmGKB
PROSITE	ZF_CCHHC	UniProtKB/Swiss-Prot
RNAcentral	URS0000EA9296	RNACentral
Superfamily-SCOP	SSF103637	UniProtKB/Swiss-Prot
UniProt	A0A2R8Y3S5_HUMAN	UniProtKB/TrEMBL
	E1P5H0	ENTREZGENE
	F5H7M8	ENTREZGENE
	MYT1_HUMAN	UniProtKB/Swiss-Prot
	O94922	ENTREZGENE
	Q01538	ENTREZGENE
	Q6P6D5_HUMAN	UniProtKB/TrEMBL
	Q7Z5W2	ENTREZGENE
	Q9UPV2	ENTREZGENE
UniProt Secondary	E1P5H0	UniProtKB/Swiss-Prot
	F5H7M8	UniProtKB/Swiss-Prot
	O94922	UniProtKB/Swiss-Prot
	Q7Z5W2	UniProtKB/Swiss-Prot
	Q9UPV2	UniProtKB/Swiss-Prot

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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