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Gene: MAML1 (mastermind like transcriptional coactivator 1) Homo sapiens

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Symbol:

MAML1

Name:

mastermind like transcriptional coactivator 1

RGD ID:

1318517

HGNC Page

HGNC:13632

Description:

Enables peptide antigen binding activity; protein kinase binding activity; and transcription coactivator activity. Involved in several processes, including Notch signaling pathway; positive regulation of myotube differentiation; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of MAML1-RBP-Jkappa- ICN1 complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ53540; KIAA0200; Mam-1; Mam1; mastermind homolog; mastermind-like 1; mastermind-like protein 1; mastermind-like transcriptional coactivator 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	5	179,732,822 - 179,777,283 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	179,732,822 - 179,777,283 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	179,159,823 - 179,204,284 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	179,092,457 - 179,136,890 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	179,092,456 - 179,136,887	NCBI
Celera	5	174,784,899 - 174,829,445 (+)	NCBI		Celera
Cytogenetic Map	5	q35.3	NCBI
HuRef	5	173,886,041 - 173,930,435 (+)	NCBI		HuRef
CHM1_1	5	178,592,272 - 178,636,696 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	180,288,007 - 180,332,482 (+)	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

amyotrophic lateral sclerosis (ISO)

Ehlers-Danlos syndrome dermatosparaxis type (IAGP)

frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (IAGP)

prostate cancer (IAGP)

Sotos syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

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

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzo[a]pyrene (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

chlorpyrifos (ISO)

choline (ISO)

crocidolite asbestos (EXP)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

Dibutyl phosphate (EXP)

dicrotophos (EXP)

enzalutamide (EXP)

ethanol (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

glyphosate (EXP)

HT-2 toxin (EXP)

L-methionine (ISO)

lead(0) (EXP)

nitrofen (ISO)

paracetamol (ISO)

pentanal (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

pirinixic acid (EXP)

propiconazole (ISO)

silicon dioxide (ISO)

sunitinib (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

triphenyl phosphate (EXP)

troglitazone (ISO)

tungsten (ISO)

valproic acid (EXP)

zinc atom (ISO)

zinc dichloride (ISO)

zinc(0) (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

atrioventricular node cell development (IEA,ISS)

atrioventricular node development (ISS)

myoblast differentiation (IEA)

Notch signaling pathway (IDA,IEA)

positive regulation of muscle cell differentiation (IEA)

positive regulation of myotube differentiation (IEA,IGI)

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

positive regulation of transcription of Notch receptor target (IBA,IEA)

protein phosphorylation (IDA)

Cellular Component

MAML1-RBP-Jkappa- ICN1 complex (IDA)

nuclear speck (IEA)

nucleoplasm (IBA,TAS)

nucleus (IDA,IEA)

Molecular Function

peptide antigen binding (IPI)

protein binding (IPI)

protein kinase binding (IPI)

transcription coactivator activity (IBA,IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

Notch signaling pathway (EXP,IEA,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Prostate cancer (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Cell and molecular biology of Notch.	Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	Notch pathway is activated in cell culture and mouse models of mutant SOD1-related familial amyotrophic lateral sclerosis, with suppression of its activation as an additional mechanism of neuroprotection for lithium and valproate.	Wang SY, etal., Neuroscience. 2015 Aug 20;301:276-88. doi: 10.1016/j.neuroscience.2015.06.002. Epub 2015 Jun 8.

Additional References at PubMed

PMID:8724849	PMID:9874765	PMID:11101851	PMID:11390662	PMID:11585921	PMID:11997524	PMID:12050117	PMID:12370315	PMID:12386158	PMID:12391150	PMID:12477932	PMID:12644465
PMID:15546612	PMID:16510869	PMID:16530044	PMID:17317671	PMID:17573339	PMID:17875709	PMID:18029348	PMID:18155729	PMID:18427106	PMID:19751190	PMID:19838210	PMID:19907488
PMID:19913121	PMID:20118921	PMID:20203086	PMID:20628086	PMID:20972443	PMID:21124806	PMID:21640102	PMID:21820430	PMID:21873635	PMID:22006371	PMID:22100894	PMID:22249263
PMID:22325781	PMID:22810586	PMID:22864395	PMID:22990361	PMID:23022380	PMID:23029358	PMID:23365452	PMID:23454378	PMID:24680774	PMID:24999758	PMID:25609649	PMID:26033683
PMID:26108681	PMID:26186194	PMID:26225565	PMID:26294058	PMID:26496610	PMID:26522984	PMID:26662507	PMID:26673895	PMID:26857655	PMID:26972000	PMID:27173435	PMID:27650617
PMID:28174252	PMID:28325367	PMID:28462489	PMID:28514442	PMID:28625977	PMID:28718761	PMID:29281732	PMID:29333702	PMID:29395067	PMID:29507755	PMID:30370525	PMID:30415952
PMID:30732857	PMID:30737405	PMID:30804394	PMID:30975888	PMID:30992079	PMID:31182584	PMID:31416089	PMID:31527615	PMID:31874246	PMID:32179552	PMID:32180088	PMID:32344865
PMID:32482852	PMID:33640491	PMID:33961781	PMID:34189442	PMID:34672954	PMID:34818576	PMID:35016035	PMID:35140242	PMID:35271311	PMID:35439318	PMID:35748872	PMID:35821235
PMID:35844135	PMID:36129980	PMID:36155393	PMID:36688959	PMID:37071664	PMID:37499664	PMID:37689310	PMID:37827155	PMID:38297188	PMID:38360978	PMID:38580884	PMID:39117622

Genomics

Comparative Map Data

MAML1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	179,732,822 - 179,777,283 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	179,732,822 - 179,777,283 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	179,159,823 - 179,204,284 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	179,092,457 - 179,136,890 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	179,092,456 - 179,136,887	NCBI
Celera	5	174,784,899 - 174,829,445 (+)	NCBI		Celera
Cytogenetic Map	5	q35.3	NCBI
HuRef	5	173,886,041 - 173,930,435 (+)	NCBI		HuRef
CHM1_1	5	178,592,272 - 178,636,696 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	180,288,007 - 180,332,482 (+)	NCBI		T2T-CHM13v2.0

Maml1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	50,146,461 - 50,183,163 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	50,146,461 - 50,183,138 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	50,255,634 - 50,293,131 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	50,255,634 - 50,292,311 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	50,069,136 - 50,105,838 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	50,099,061 - 50,110,291 (-)	NCBI		MGSCv36	mm8
Celera	11	54,816,231 - 54,852,945 (-)	NCBI		Celera
Cytogenetic Map	11	B1.3	NCBI
cM Map	11	30.42	NCBI

Maml1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	35,089,715 - 35,124,100 (-)	NCBI		GRCr8
mRatBN7.2	10	34,588,639 - 34,623,024 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	34,588,646 - 34,623,338 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	39,259,884 - 39,294,285 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	7,799,136 - 7,833,535 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	34,253,556 - 34,287,955 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	35,765,196 - 35,801,375 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	35,765,719 - 35,800,120 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	35,526,970 - 35,561,786 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	35,814,839 - 35,850,122 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	35,818,052 - 35,851,152 (-)	NCBI
Celera	10	33,936,867 - 33,971,456 (-)	NCBI		Celera
Cytogenetic Map	10	q22	NCBI

Maml1
(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_004955408	804,535 - 813,475 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	802,277 - 850,218 (-)	NCBI	ChiLan1.0	ChiLan1.0

MAML1
(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	4	174,675,398 - 174,719,867 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	172,814,949 - 172,861,947 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	174,886,694 - 174,931,153 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	182,203,371 - 182,242,296 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	182,230,351 - 182,242,296 (+)	Ensembl	panpan1.1		panPan2

MAML1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	1,915,622 - 1,927,598 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	1,918,133 - 1,963,836 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	2,038,998 - 2,087,221 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	1,890,184 - 1,938,415 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	1,890,898 - 1,938,376 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	1,861,654 - 1,909,956 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	1,940,584 - 1,988,788 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	2,181,090 - 2,229,297 (-)	NCBI		UU_Cfam_GSD_1.0

Maml1
(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_024407213	119,797,158 - 119,840,812 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936739	1,006,705 - 1,050,394 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936739	1,006,273 - 1,051,338 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MAML1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	78,818,411 - 78,876,615 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	78,818,658 - 78,876,633 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	80,385,037 - 80,443,200 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MAML1
(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	23	81,456,537 - 81,508,893 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	81,496,033 - 81,506,497 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	12,831,231 - 12,885,701 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Maml1
(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_004624733	42,618,127 - 42,663,827 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624733	42,618,105 - 42,663,262 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MAML1
102 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	copy number gain	See cases [RCV000051205]	Chr5:178529878..181269805 [GRCh38] Chr5:177956879..180696806 [GRCh37] Chr5:177889485..180629412 [NCBI36] Chr5:5q35.3	uncertain significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	copy number gain	See cases [RCV000051863]	Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3	pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]\|See cases [RCV000051865]	Chr5:160029980..181269805 [GRCh38] Chr5:159456987..180696806 [GRCh37] Chr5:159389565..180629412 [NCBI36] Chr5:5q33.3-35.3	pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3	copy number gain	See cases [RCV000051866]	Chr5:168689326..181269946 [GRCh38] Chr5:168116331..180696947 [GRCh37] Chr5:168048909..180629553 [NCBI36] Chr5:5q34-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	copy number gain	See cases [RCV000051868]	Chr5:175889986..180793986 [GRCh38] Chr5:175316989..180220986 [GRCh37] Chr5:175249595..180153592 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.3(chr5:179680598-180161082)x3	copy number gain	See cases [RCV000053317]	Chr5:179680598..180161082 [GRCh38] Chr5:179107599..179588082 [GRCh37] Chr5:179040205..179520688 [NCBI36] Chr5:5q35.3	uncertain significance
NM_014757.4(MAML1):c.1745C>T (p.Ser582Phe)	single nucleotide variant	Malignant melanoma [RCV000066877]	Chr5:179768863 [GRCh38] Chr5:179195864 [GRCh37] Chr5:179128470 [NCBI36] Chr5:5q35.3	not provided
NM_014757.5(MAML1):c.1163G>T (p.Gly388Val)	single nucleotide variant	Malignant tumor of prostate [RCV000149220]	Chr5:179766173 [GRCh38] Chr5:179193174 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	copy number gain	See cases [RCV000133847]	Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3	pathogenic
GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	copy number loss	See cases [RCV000135285]	Chr5:179669736..180897169 [GRCh38] Chr5:179096737..180324169 [GRCh37] Chr5:179029343..180256775 [NCBI36] Chr5:5q35.3	likely pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	copy number gain	See cases [RCV000135546]	Chr5:164386701..181269805 [GRCh38] Chr5:163813707..180696806 [GRCh37] Chr5:163746285..180629412 [NCBI36] Chr5:5q34-35.3	pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	copy number gain	See cases [RCV000141249]	Chr5:169334755..181285301 [GRCh38] Chr5:168761759..180712302 [GRCh37] Chr5:168694337..180644908 [NCBI36] Chr5:5q35.1-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	copy number loss	See cases [RCV000141987]	Chr5:175536771..181292788 [GRCh38] Chr5:174963774..180719789 [GRCh37] Chr5:174896380..180652395 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	copy number gain	See cases [RCV000142298]	Chr5:178235909..181292788 [GRCh38] Chr5:177662910..180719789 [GRCh37] Chr5:177595516..180652395 [NCBI36] Chr5:5q35.3	likely pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	copy number loss	See cases [RCV000142648]	Chr5:176700128..181269805 [GRCh38] Chr5:176127129..180696806 [GRCh37] Chr5:176059735..180629412 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	copy number loss	See cases [RCV000167565]	Chr5:174397487..180686444 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_014757.5(MAML1):c.3037T>A (p.Leu1013Ile)	single nucleotide variant	not specified [RCV004315104]	Chr5:179774863 [GRCh38] Chr5:179201864 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	copy number gain	not provided [RCV000767711]	Chr5:174990352..180690937 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1	copy number loss	See cases [RCV000447018]	Chr5:176274007..180719789 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:178228725-180678091)x3	copy number gain	See cases [RCV000448488]	Chr5:178228725..180678091 [GRCh37] Chr5:5q35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1	copy number loss	See cases [RCV000448611]	Chr5:174427052..180719789 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1	copy number loss	See cases [RCV000448793]	Chr5:175601473..180100378 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:178849756-180719789)x3	copy number gain	See cases [RCV000448073]	Chr5:178849756..180719789 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3	copy number gain	See cases [RCV000448458]	Chr5:171396359..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	copy number gain	See cases [RCV000512068]	Chr5:172031248..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	copy number loss	See cases [RCV000510785]	Chr5:175570677..180719789 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_014757.5(MAML1):c.2816G>C (p.Gly939Ala)	single nucleotide variant	not specified [RCV004297491]	Chr5:179774642 [GRCh38] Chr5:179201643 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	copy number gain	See cases [RCV000512203]	Chr5:177535168..180719789 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3	copy number gain	not provided [RCV000682623]	Chr5:178904345..179529124 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:179016558-179409873)x3	copy number gain	not provided [RCV000682624]	Chr5:179016558..179409873 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	copy number loss	not provided [RCV000682620]	Chr5:177114088..180719789 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3	copy number gain	not provided [RCV000745284]	Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3	copy number gain	not provided [RCV000745336]	Chr5:174832617..180693344 [GRCh37] Chr5:5q35.2-35.3	pathogenic
NM_014757.5(MAML1):c.1374C>T (p.Asp458=)	single nucleotide variant	not provided [RCV000893134]	Chr5:179766384 [GRCh38] Chr5:179193385 [GRCh37] Chr5:5q35.3	benign\|likely benign
NM_014757.5(MAML1):c.289G>C (p.Gly97Arg)	single nucleotide variant	not provided [RCV000948306]	Chr5:179733401 [GRCh38] Chr5:179160402 [GRCh37] Chr5:5q35.3	benign
GRCh37/hg19 5q35.3(chr5:177776148-180687012)	copy number loss	not provided [RCV000767663]	Chr5:177776148..180687012 [GRCh37] Chr5:5q35.3	likely pathogenic
Single allele	duplication	not provided [RCV000768450]	Chr5:175843728..180703728 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	copy number gain	Sensorineural hearing loss disorder [RCV000787295]	Chr5:179085554..179524010 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:179180782-179231973)x3	copy number gain	not provided [RCV000849942]	Chr5:179180782..179231973 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	copy number gain	not provided [RCV000847220]	Chr5:176848982..180719789 [GRCh37] Chr5:5q35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	copy number gain	not provided [RCV001005750]	Chr5:178487249..180622216 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2768C>T (p.Ala923Val)	single nucleotide variant	not specified [RCV004309475]	Chr5:179774594 [GRCh38] Chr5:179201595 [GRCh37] Chr5:5q35.3	uncertain significance
NC_000005.9:g.(?_178413111)_(179263593_?)dup	duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 [RCV003107771]	Chr5:178413111..179263593 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2471C>T (p.Pro824Leu)	single nucleotide variant	not provided [RCV000952883]	Chr5:179774297 [GRCh38] Chr5:179201298 [GRCh37] Chr5:5q35.3	benign
NM_014757.5(MAML1):c.2713C>G (p.Pro905Ala)	single nucleotide variant	not provided [RCV000952884]	Chr5:179774539 [GRCh38] Chr5:179201540 [GRCh37] Chr5:5q35.3	benign
NM_014757.5(MAML1):c.2070G>A (p.Gly690=)	single nucleotide variant	not provided [RCV000888988]	Chr5:179773896 [GRCh38] Chr5:179200897 [GRCh37] Chr5:5q35.3	benign
NM_014757.5(MAML1):c.569G>A (p.Arg190His)	single nucleotide variant	not provided [RCV000889811]	Chr5:179765579 [GRCh38] Chr5:179192580 [GRCh37] Chr5:5q35.3	likely benign
NM_014757.5(MAML1):c.2869T>C (p.Cys957Arg)	single nucleotide variant	not specified [RCV004311366]	Chr5:179774695 [GRCh38] Chr5:179201696 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	copy number gain	5q35 microduplication syndrome [RCV001263227]	Chr5:170805664..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
NC_000005.9:g.(?_178699902)_(179263603_?)dup	duplication	Ehlers-Danlos syndrome, dermatosparaxis type [RCV001346318]	Chr5:178699902..179263603 [GRCh37] Chr5:5q35.3	uncertain significance
NC_000005.9:g.(?_178770758)_(179263603_?)dup	duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 [RCV001323035]	Chr5:178770758..179263603 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	copy number gain	Hunter-McAlpine craniosynostosis [RCV002280612]	Chr5:149010383..180719789 [GRCh37] Chr5:5q32-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:179082801-179409280)	copy number gain	not specified [RCV002053542]	Chr5:179082801..179409280 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177954576-180198875)	copy number gain	not specified [RCV002053539]	Chr5:177954576..180198875 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:178860745-179534363)	copy number loss	not specified [RCV002053541]	Chr5:178860745..179534363 [GRCh37] Chr5:5q35.3	uncertain significance
NC_000005.9:g.(?_175158654)_(179263593_?)dup	duplication	Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]\|Sotos syndrome [RCV003232857]\|not provided [RCV003154288]	Chr5:175158654..179263593 [GRCh37] Chr5:5q35.2-35.3	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	copy number gain	See cases [RCV002292398]	Chr5:170350336..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:178947702-179645244)x3	copy number gain	not provided [RCV002474901]	Chr5:178947702..179645244 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.241A>C (p.Thr81Pro)	single nucleotide variant	not specified [RCV004188338]	Chr5:179733353 [GRCh38] Chr5:179160354 [GRCh37] Chr5:5q35.3	likely benign
NM_014757.5(MAML1):c.455C>G (p.Ser152Cys)	single nucleotide variant	not specified [RCV004238459]	Chr5:179765465 [GRCh38] Chr5:179192466 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	copy number gain	not provided [RCV002475701]	Chr5:177746012..179975280 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.482T>G (p.Leu161Arg)	single nucleotide variant	not specified [RCV004162485]	Chr5:179765492 [GRCh38] Chr5:179192493 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.353C>T (p.Ala118Val)	single nucleotide variant	not specified [RCV004095088]	Chr5:179765363 [GRCh38] Chr5:179192364 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.262C>A (p.Pro88Thr)	single nucleotide variant	not specified [RCV004196917]	Chr5:179733374 [GRCh38] Chr5:179160375 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.494A>T (p.Asp165Val)	single nucleotide variant	not specified [RCV004227465]	Chr5:179765504 [GRCh38] Chr5:179192505 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1432G>A (p.Gly478Arg)	single nucleotide variant	not specified [RCV004082558]	Chr5:179766442 [GRCh38] Chr5:179193443 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.251C>T (p.Ala84Val)	single nucleotide variant	not specified [RCV004235874]	Chr5:179733363 [GRCh38] Chr5:179160364 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.269C>G (p.Pro90Arg)	single nucleotide variant	not specified [RCV004153922]	Chr5:179733381 [GRCh38] Chr5:179160382 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.191T>C (p.Ile64Thr)	single nucleotide variant	not specified [RCV004151266]	Chr5:179733303 [GRCh38] Chr5:179160304 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2585C>A (p.Ala862Glu)	single nucleotide variant	not specified [RCV004230013]	Chr5:179774411 [GRCh38] Chr5:179201412 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.341A>C (p.Asn114Thr)	single nucleotide variant	not specified [RCV004151311]	Chr5:179765351 [GRCh38] Chr5:179192352 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2918C>T (p.Ala973Val)	single nucleotide variant	not specified [RCV004218608]	Chr5:179774744 [GRCh38] Chr5:179201745 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1661A>G (p.Gln554Arg)	single nucleotide variant	not specified [RCV004172642]	Chr5:179766671 [GRCh38] Chr5:179193672 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2890C>T (p.Arg964Trp)	single nucleotide variant	not specified [RCV004099419]	Chr5:179774716 [GRCh38] Chr5:179201717 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2821T>C (p.Phe941Leu)	single nucleotide variant	not specified [RCV004069831]	Chr5:179774647 [GRCh38] Chr5:179201648 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2866C>T (p.His956Tyr)	single nucleotide variant	not specified [RCV004159813]	Chr5:179774692 [GRCh38] Chr5:179201693 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.262C>G (p.Pro88Ala)	single nucleotide variant	not specified [RCV004165865]	Chr5:179733374 [GRCh38] Chr5:179160375 [GRCh37] Chr5:5q35.3	likely benign
NM_014757.5(MAML1):c.1607A>G (p.Lys536Arg)	single nucleotide variant	not specified [RCV004167732]	Chr5:179766617 [GRCh38] Chr5:179193618 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.905T>G (p.Phe302Cys)	single nucleotide variant	not specified [RCV004102027]	Chr5:179765915 [GRCh38] Chr5:179192916 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2897C>T (p.Ala966Val)	single nucleotide variant	not specified [RCV004224969]	Chr5:179774723 [GRCh38] Chr5:179201724 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2749C>G (p.Pro917Ala)	single nucleotide variant	not specified [RCV004080812]	Chr5:179774575 [GRCh38] Chr5:179201576 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1352G>A (p.Ser451Asn)	single nucleotide variant	not specified [RCV004081278]	Chr5:179766362 [GRCh38] Chr5:179193363 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2597T>A (p.Phe866Tyr)	single nucleotide variant	not specified [RCV004069529]	Chr5:179774423 [GRCh38] Chr5:179201424 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1430C>A (p.Pro477His)	single nucleotide variant	not specified [RCV004599556]	Chr5:179766440 [GRCh38] Chr5:179193441 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2027C>T (p.Pro676Leu)	single nucleotide variant	not specified [RCV004076731]	Chr5:179771202 [GRCh38] Chr5:179198203 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1042T>C (p.Phe348Leu)	single nucleotide variant	not specified [RCV004221161]	Chr5:179766052 [GRCh38] Chr5:179193053 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1259C>T (p.Pro420Leu)	single nucleotide variant	not specified [RCV004082062]	Chr5:179766269 [GRCh38] Chr5:179193270 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.355A>G (p.Thr119Ala)	single nucleotide variant	not specified [RCV004936919]	Chr5:179765365 [GRCh38] Chr5:179192366 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2661C>G (p.Asn887Lys)	single nucleotide variant	not specified [RCV004936922]	Chr5:179774487 [GRCh38] Chr5:179201488 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.323A>G (p.His108Arg)	single nucleotide variant	not specified [RCV004936924]	Chr5:179765333 [GRCh38] Chr5:179192334 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2803G>A (p.Gly935Arg)	single nucleotide variant	not specified [RCV004936917]	Chr5:179774629 [GRCh38] Chr5:179201630 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.541C>A (p.Leu181Met)	single nucleotide variant	not specified [RCV004936918]	Chr5:179765551 [GRCh38] Chr5:179192552 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2944G>A (p.Gly982Arg)	single nucleotide variant	not specified [RCV004936912]	Chr5:179774770 [GRCh38] Chr5:179201771 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.484G>A (p.Gly162Ser)	single nucleotide variant	not specified [RCV004936920]	Chr5:179765494 [GRCh38] Chr5:179192495 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1138G>T (p.Val380Leu)	single nucleotide variant	not specified [RCV004277367]	Chr5:179766148 [GRCh38] Chr5:179193149 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1856C>A (p.Ala619Asp)	single nucleotide variant	not specified [RCV004273906]	Chr5:179768974 [GRCh38] Chr5:179195975 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.611C>G (p.Pro204Arg)	single nucleotide variant	not specified [RCV004254350]	Chr5:179765621 [GRCh38] Chr5:179192622 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1990C>T (p.Arg664Cys)	single nucleotide variant	not specified [RCV004260484]	Chr5:179771165 [GRCh38] Chr5:179198166 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1109C>A (p.Ala370Asp)	single nucleotide variant	not specified [RCV004277366]	Chr5:179766119 [GRCh38] Chr5:179193120 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2165G>A (p.Gly722Asp)	single nucleotide variant	not specified [RCV004270711]	Chr5:179773991 [GRCh38] Chr5:179200992 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1780G>A (p.Gly594Arg)	single nucleotide variant	not specified [RCV004269323]	Chr5:179768898 [GRCh38] Chr5:179195899 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2605C>A (p.Gln869Lys)	single nucleotide variant	not specified [RCV004252832]	Chr5:179774431 [GRCh38] Chr5:179201432 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.313A>G (p.Thr105Ala)	single nucleotide variant	not specified [RCV004347926]	Chr5:179733425 [GRCh38] Chr5:179160426 [GRCh37] Chr5:5q35.3	likely benign
NM_014757.5(MAML1):c.179A>C (p.His60Pro)	single nucleotide variant	not specified [RCV004347964]	Chr5:179733291 [GRCh38] Chr5:179160292 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2122T>C (p.Cys708Arg)	single nucleotide variant	not specified [RCV004338704]	Chr5:179773948 [GRCh38] Chr5:179200949 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2640A>T (p.Gln880His)	single nucleotide variant	not specified [RCV004361557]	Chr5:179774466 [GRCh38] Chr5:179201467 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.734A>G (p.Asn245Ser)	single nucleotide variant	not specified [RCV004334801]	Chr5:179765744 [GRCh38] Chr5:179192745 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.451T>C (p.Ser151Pro)	single nucleotide variant	not specified [RCV004366200]	Chr5:179765461 [GRCh38] Chr5:179192462 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1187C>T (p.Ala396Val)	single nucleotide variant	not specified [RCV004346398]	Chr5:179766197 [GRCh38] Chr5:179193198 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	copy number gain	not provided [RCV003484632]	Chr5:178581633..180719789 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:178991938-179400807)x3	copy number gain	not provided [RCV003484633]	Chr5:178991938..179400807 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.663C>T (p.Val221=)	single nucleotide variant	not provided [RCV003428743]	Chr5:179765673 [GRCh38] Chr5:179192674 [GRCh37] Chr5:5q35.3	likely benign
NM_014757.5(MAML1):c.390C>T (p.Tyr130=)	single nucleotide variant	not provided [RCV003430039]	Chr5:179765400 [GRCh38] Chr5:179192401 [GRCh37] Chr5:5q35.3	likely benign
NM_014757.5(MAML1):c.330A>G (p.Thr110=)	single nucleotide variant	not provided [RCV003428742]	Chr5:179765340 [GRCh38] Chr5:179192341 [GRCh37] Chr5:5q35.3	likely benign
NM_014757.5(MAML1):c.2784G>C (p.Leu928Phe)	single nucleotide variant	not specified [RCV004413804]	Chr5:179774610 [GRCh38] Chr5:179201611 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1022T>A (p.Leu341Gln)	single nucleotide variant	not specified [RCV004413789]	Chr5:179766032 [GRCh38] Chr5:179193033 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1507G>A (p.Ala503Thr)	single nucleotide variant	not specified [RCV004413794]	Chr5:179766517 [GRCh38] Chr5:179193518 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:178974997-179632637)x3	copy number gain	not specified [RCV003986603]	Chr5:178974997..179632637 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	copy number gain	not specified [RCV003986579]	Chr5:177944162..180183615 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	copy number gain	not specified [RCV003986542]	Chr5:177944162..180198875 [GRCh37] Chr5:5q35.3	pathogenic
NM_014757.5(MAML1):c.1233G>A (p.Met411Ile)	single nucleotide variant	not specified [RCV004413790]	Chr5:179766243 [GRCh38] Chr5:179193244 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1442A>G (p.Tyr481Cys)	single nucleotide variant	not specified [RCV004413792]	Chr5:179766452 [GRCh38] Chr5:179193453 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2358C>G (p.Asn786Lys)	single nucleotide variant	not specified [RCV004413800]	Chr5:179774184 [GRCh38] Chr5:179201185 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.58A>G (p.Met20Val)	single nucleotide variant	not specified [RCV004413807]	Chr5:179733170 [GRCh38] Chr5:179160171 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1985T>A (p.Phe662Tyr)	single nucleotide variant	not specified [RCV004413798]	Chr5:179771160 [GRCh38] Chr5:179198161 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2312C>T (p.Pro771Leu)	single nucleotide variant	not specified [RCV004413799]	Chr5:179774138 [GRCh38] Chr5:179201139 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1537G>A (p.Gly513Ser)	single nucleotide variant	not specified [RCV004413795]	Chr5:179766547 [GRCh38] Chr5:179193548 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1586G>C (p.Ser529Thr)	single nucleotide variant	not specified [RCV004413796]	Chr5:179766596 [GRCh38] Chr5:179193597 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2532G>T (p.Met844Ile)	single nucleotide variant	not specified [RCV004413803]	Chr5:179774358 [GRCh38] Chr5:179201359 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2999G>A (p.Arg1000Lys)	single nucleotide variant	not specified [RCV004413805]	Chr5:179774825 [GRCh38] Chr5:179201826 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.718C>T (p.Leu240Phe)	single nucleotide variant	not specified [RCV004413808]	Chr5:179765728 [GRCh38] Chr5:179192729 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1312A>G (p.Ser438Gly)	single nucleotide variant	not specified [RCV004413791]	Chr5:179766322 [GRCh38] Chr5:179193323 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2363G>A (p.Gly788Asp)	single nucleotide variant	not specified [RCV004413801]	Chr5:179774189 [GRCh38] Chr5:179201190 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1496A>G (p.Asn499Ser)	single nucleotide variant	not specified [RCV004413793]	Chr5:179766506 [GRCh38] Chr5:179193507 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.161A>G (p.Gln54Arg)	single nucleotide variant	not specified [RCV004413797]	Chr5:179733273 [GRCh38] Chr5:179160274 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2377G>A (p.Val793Ile)	single nucleotide variant	not specified [RCV004413802]	Chr5:179774203 [GRCh38] Chr5:179201204 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.938G>T (p.Gly313Val)	single nucleotide variant	not specified [RCV004413809]	Chr5:179765948 [GRCh38] Chr5:179192949 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.425G>A (p.Arg142Gln)	single nucleotide variant	not specified [RCV004642641]	Chr5:179765435 [GRCh38] Chr5:179192436 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1913A>G (p.Gln638Arg)	single nucleotide variant	not specified [RCV004642644]	Chr5:179769031 [GRCh38] Chr5:179196032 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2336C>T (p.Ala779Val)	single nucleotide variant	not specified [RCV004642642]	Chr5:179774162 [GRCh38] Chr5:179201163 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.705A>G (p.Ile235Met)	single nucleotide variant	not specified [RCV004642645]	Chr5:179765715 [GRCh38] Chr5:179192716 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1413T>G (p.Asn471Lys)	single nucleotide variant	not specified [RCV004636431]	Chr5:179766423 [GRCh38] Chr5:179193424 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1486A>C (p.Ser496Arg)	single nucleotide variant	not specified [RCV004642646]	Chr5:179766496 [GRCh38] Chr5:179193497 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2308C>T (p.Pro770Ser)	single nucleotide variant	not specified [RCV004642643]	Chr5:179774134 [GRCh38] Chr5:179201135 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.953G>A (p.Arg318Lys)	single nucleotide variant	not specified [RCV004636430]	Chr5:179765963 [GRCh38] Chr5:179192964 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.518T>C (p.Leu173Pro)	single nucleotide variant	not specified [RCV004642640]	Chr5:179765528 [GRCh38] Chr5:179192529 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.46C>A (p.His16Asn)	single nucleotide variant	not specified [RCV004936921]	Chr5:179733158 [GRCh38] Chr5:179160159 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1700T>G (p.Met567Arg)	single nucleotide variant	not specified [RCV004936910]	Chr5:179766710 [GRCh38] Chr5:179193711 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.601G>A (p.Gly201Ser)	single nucleotide variant	not specified [RCV004936911]	Chr5:179765611 [GRCh38] Chr5:179192612 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1798G>A (p.Val600Met)	single nucleotide variant	not specified [RCV004936914]	Chr5:179768916 [GRCh38] Chr5:179195917 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.1318T>G (p.Leu440Val)	single nucleotide variant	not specified [RCV004936923]	Chr5:179766328 [GRCh38] Chr5:179193329 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2473G>T (p.Val825Phe)	single nucleotide variant	not specified [RCV004936913]	Chr5:179774299 [GRCh38] Chr5:179201300 [GRCh37] Chr5:5q35.3	uncertain significance
NM_014757.5(MAML1):c.2971G>A (p.Asp991Asn)	single nucleotide variant	not specified [RCV004936915]	Chr5:179774797 [GRCh38] Chr5:179201798 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177704637-180719789)x3	copy number gain	not provided [RCV004819497]	Chr5:177704637..180719789 [GRCh37] Chr5:5q35.3	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2204
Count of miRNA genes:	1053
Interacting mature miRNAs:	1298
Transcripts:	ENST00000292599, ENST00000503050, ENST00000507385, ENST00000511027
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597178872	GWAS1274946_H	body mass index QTL GWAS1274946 (human)		2e-08	body mass index	body mass index (BMI) (CMO:0000105)	5	179769897	179769898	Human
407078689	GWAS727665_H	granulocyte count QTL GWAS727665 (human)		6e-12	granulocyte quantity (VT:0000334)	blood neutrophil count (CMO:0000030)	5	179757487	179757488	Human
2289409	BW320_H	Body weight QTL 320 (human)	3.5	0.0002	Body weight	lean mass	5	160925164	181538259	Human
597067029	GWAS1163103_H	susceptibility to rheumatic fever measurement QTL GWAS1163103 (human)		0.000006	susceptibility to rheumatic fever measurement		5	179733401	179733402	Human
407080395	GWAS729371_H	neutrophil count, eosinophil count QTL GWAS729371 (human)		4e-12	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	5	179757487	179757488	Human
597255569	GWAS1351643_H	heel bone mineral density, urate measurement QTL GWAS1351643 (human)		3e-08	heel bone mineral density, urate measurement	blood uric acid level (CMO:0000501)	5	179774463	179774464	Human
597223857	GWAS1319931_H	insomnia, total blood protein measurement QTL GWAS1319931 (human)		3e-11	insomnia, total blood protein measurement	blood protein measurement (CMO:0000028)	5	179753717	179753718	Human
407080952	GWAS729928_H	neutrophil count, basophil count QTL GWAS729928 (human)		5e-12	basophil quantity (VT:0002607)	blood granulocyte count (CMO:0000111)	5	179757487	179757488	Human
407081468	GWAS730444_H	granulocyte percentage of myeloid white cells QTL GWAS730444 (human)		8e-25	granulocyte quantity (VT:0000334)		5	179757487	179757488	Human

Markers in Region

SHGC-24426

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	179,204,089 - 179,204,205	UniSTS	GRCh37
Build 36	5	179,136,695 - 179,136,811	RGD	NCBI36
Celera	5	174,829,247 - 174,829,363	RGD
Cytogenetic Map	5	q35	UniSTS
HuRef	5	173,930,237 - 173,930,353	UniSTS
Stanford-G3 RH Map	5	6414.0	UniSTS
NCBI RH Map	5	484.0	UniSTS
GeneMap99-G3 RH Map	5	6502.0	UniSTS

RH25413

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	179,203,938 - 179,204,201	UniSTS	GRCh37
Build 36	5	179,136,544 - 179,136,807	RGD	NCBI36
Celera	5	174,829,096 - 174,829,359	RGD
Cytogenetic Map	5	q35	UniSTS
HuRef	5	173,930,086 - 173,930,349	UniSTS

G60322

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	179,180,105 - 179,180,308	UniSTS	GRCh37
Build 36	5	179,112,711 - 179,112,914	RGD	NCBI36
Celera	5	174,805,263 - 174,805,460	RGD
Cytogenetic Map	5	q35	UniSTS
HuRef	5	173,906,434 - 173,906,631	UniSTS
TNG Radiation Hybrid Map	5	84013.0	UniSTS

RH46179

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	179,194,269 - 179,194,440	UniSTS	GRCh37
Build 36	5	179,126,875 - 179,127,046	RGD	NCBI36
Celera	5	174,819,426 - 174,819,597	RGD
Cytogenetic Map	5	q35	UniSTS
HuRef	5	173,920,416 - 173,920,587	UniSTS
GeneMap99-GB4 RH Map	5	652.03	UniSTS

STS-N25670

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	179,158,159 - 179,158,364	UniSTS	GRCh37
Build 36	5	179,090,765 - 179,090,970	RGD	NCBI36
Celera	5	174,783,207 - 174,783,412	RGD
Cytogenetic Map	5	q35	UniSTS
HuRef	5	173,884,349 - 173,884,554	UniSTS
GeneMap99-GB4 RH Map	5	652.03	UniSTS

MAML1_3517

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	179,203,375 - 179,204,286	UniSTS	GRCh37
Build 36	5	179,135,981 - 179,136,892	RGD	NCBI36
Celera	5	174,828,533 - 174,829,444	RGD
HuRef	5	173,929,523 - 173,930,434	UniSTS

D5S2383

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	5	q35	UniSTS
HuRef	5	173,930,075 - 173,930,256	UniSTS
Stanford-G3 RH Map	5	6420.0	UniSTS
GeneMap99-G3 RH Map	5	6508.0	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2436	2788	2246	4963	1725	2350	4	622	1949	465	2269	7293	6461	52	3726	851	1739	1615	172

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_046922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA975821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB209135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC113426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC270227	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF221759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC047937	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D83785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000292599 ⟹ ENSP00000292599

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	179,732,822 - 179,777,283 (+)	Ensembl

Ensembl Acc Id:

ENST00000507385

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	179,768,852 - 179,773,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000511027

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	179,770,928 - 179,774,468 (+)	Ensembl

RefSeq Acc Id:

NM_014757 ⟹ NP_055572

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	179,732,822 - 179,777,283 (+)	NCBI
GRCh37	5	179,159,833 - 179,208,035 (+)	NCBI
Build 36	5	179,092,457 - 179,136,890 (+)	NCBI Archive
HuRef	5	173,886,041 - 173,930,435 (+)	ENTREZGENE
CHM1_1	5	178,592,272 - 178,636,696 (+)	NCBI
T2T-CHM13v2.0	5	180,288,007 - 180,332,482 (+)	NCBI

Sequence:

show sequence

GAGAGGCCCGAAAACAATTTTAAGATGGCGGCCGCGGCGGTAGCGCGGAAAACAATGGGGCCGG
GGCGGTGGGGAGAGGCCGAGGCTTGAGGTAGGCAGCAAGCGCCGGCTGGGGGTCGGGCCGAGCG
GGGCAGGAGGAAAACCCGCCGCCGCGCGCGAGCCCGCTCCGCTGCCCTCGGGGGCATGGCGCGG
CCGTGAGGCGGAGAGGGGTAGCCGCGGGGAGCGAAGCCCGCAGTGCCAGCCGGCCCCGAGAGGC
CCGGCCCCGGGCCCGGCCCGTGCAGCCCGCGGCCCATGGTGCTGCCCACCTGCCCCATGGCGGA
GTTCGCGCTGCCGCGGCACAGCGCGGTCATGGAGCGCCTTCGCCGGCGCATCGAGCTGTGCCGG
CGCCACCACAGCACCTGCGAGGCCCGCTACGAGGCCGTGTCGCCCGAGCGCCTGGAGCTGGAGC
GCCAACACACCTTCGCCCTGCACCAGCGCTGCATCCAGGCCAAGGCCAAGCGCGCCGGGAAGCA
CAGGCAGCCGCCCGCCGCCACGGCCCCGGCGCCCGCCGCCCCGGCCCCGCGCCTGGACGCCGCT
GACGGCCCCGAGCACGGCCGCCCGGCCACGCATCTTCATGATACAGTTAAGAGGAATCTTGACA
GCGCCACTTCCCCTCAGAATGGCGATCAACAGAATGGCTACGGGGACCTCTTTCCTGGGCATAA
GAAGACTCGCCGGGAGGCCCCTCTGGGAGTTGCCATCTCTTCCAATGGACTGCCTCCAGCCTCC
CCCCTCGGTCAGTCTGACAAGCCTTCTGGAGCCGACGCCCTGCAGTCCAGTGGGAAGCACTCTC
TGGGGCTAGACTCTCTCAACAAAAAGCGTCTGGCTGACTCCAGCCTTCACTTGAATGGAGGCAG
TAACCCCAGTGAGTCATTTCCTCTGAGCCTGAATAAAGAACTGAAGCAGGAGCCTGTCGAAGAC
CTGCCTTGCATGATCACTGGGACTGTCGGCTCCATATCGCAAAGCAACCTCATGCCAGACCTCA
ACCTTAACGAGCAGGAGTGGAAGGAGCTCATCGAGGAGCTGAACAGGTCGGTGCCCGATGAAGA
CATGAAGGACCTGTTTAATGAGGACTTCGAGGAGAAGAAGGACCCAGAGTCTTCTGGCTCTGCC
ACACAAACCCCCTTGGCACAGGACATTAATATTAAGACGGAATTCTCTCCAGCAGCCTTTGAGC
AAGAACAGTTAGGCTCTCCACAAGTGAGGGCCGGGTCTGCAGGGCAGACCTTTCTGGGGCCTTC
CTCTGCCCCTGTGAGTACAGATTCCCCCAGCCTAGGGGGCTCCCAAACCTTATTCCACACCTCT
GGTCAGCCCCGGGCGGACAATCCCAGTCCAAACCTGATGCCGGCATCAGCCCAGGCCCAGAACG
CACAAAGAGCCCTTGCAGGTGTGGTATTGCCCAGTCAGGGCCCAGGAGGGGCCTCAGAGCTGTC
CTCTGCCCACCAGCTCCAGCAGATCGCTGCCAAGCAGAAGCGCGAGCAGATGCTCCAGAACCCA
CAGCAGGCCACCCCGGCACCAGCCCCGGGCCAGATGTCCACATGGCAGCAGACGGGGCCCTCCC
ACAGTTCCTTAGATGTCCCTTACCCCATGGAGAAGCCTGCCAGCCCTTCCAGCTACAAGCAAGA
CTTCACTAACTCCAAACTGCTCATGATGCCTAGTGTGAATAAGAGTTCCCCTCGGCCCGGAGGC
CCCTACCTCCAGCCCAGCCATGTGAACCTGCTGAGTCACCAGCCACCGAGTAACTTGAATCAGA
ACTCCGCGAATAACCAGGGGTCTGTGCTGGACTACGGCAATACAAAACCCCTTTCTCATTACAA
AGCGGACTGTGGGCAAGGCAGCCCGGGGTCTGGCCAGAGCAAGCCAGCCCTGATGGCTTATCTT
CCCCAGCAGCTGTCCCATATAAGTCACGAGCAGAACTCCCTGTTTCTGATGAAGCCAAAGCCAG
GAAATATGCCTTTCCGATCACTGGTTCCACCTGGCCAGGAGCAGAACCCTTCCAGTGTCCCTGT
GCAAGCCCAGGCTACCAGTGTTGGGACCCAGCCGCCTGCCGTGTCCGTGGCCAGCTCCCACAAC
AGCTCCCCCTATCTCAGCAGCCAGCAACAGGCCGCTGTAATGAAGCAGCATCAGTTGCTTTTGG
ACCAACAGAAACAAAGGGAGCAGCAGCAAAAGCATTTACAGCAACAGCAGTTCCTTCAGAGGCA
ACAGCACCTTCTCGCGGAACAGGAGAAGCAACAGTTTCAGCGCCATCTGACCCGCCCACCACCC
CAGTACCAAGACCCGACACAAGGCAGCTTCCCACAGCAGGTTGGACAGTTCACAGGGTCCTCTG
CTGCCGTGCCCGGCATGAACACCTTGGGTCCATCCAACTCCAGCTGTCCTCGAGTGTTCCCTCA
GGCTGGGAATCTGATGCCAATGGGCCCTGGACATGCTTCAGTTTCCTCTCTCCCCACAAACTCA
GGCCAACAGGACCGGGGTGTGGCTCAGTTCCCTGGCTCCCAAAACATGCCTCAGAGCAGCCTCT
ATGGCATGGCTTCTGGCATAACCCAGATAGTTGCCCAGCCCCCGCCACAGGCCACCAATGGACA
TGCCCACATTCCACGGCAGACCAACGTGGGCCAGAACACCTCCGTCTCAGCTGCCTATGGGCAG
AACTCTCTGGGAAGCTCTGGCCTCTCCCAGCAGCACAATAAGGGGACCCTGAACCCTGGTTTAA
CAAAGCCACCGGTCCCAAGGGTGTCACCAGCCATGGGAGGCCAGAATTCCTCCTGGCAGCATCA
GGGAATGCCGAACCTCAGTGGCCAGACCCCAGGGAACAGCAACGTGAGTCCCTTCACTGCAGCC
TCCAGTTTCCACATGCAGCAGCAGGCCCACCTGAAAATGTCTAGCCCGCAATTCTCCCAGGCAG
TGCCCAACAGGCCCATGGCTCCCATGAGCTCAGCAGCTGCCGTGGGGTCCTTGCTACCCCCAGT
GAGTGCACAGCAGAGGACCAGCGCCCCTGCCCCAGCACCACCCCCAACAGCCCCTCAGCAGGGC
TTGCCTGGCCTGAGCCCAGCAGGGCCTGAGCTGGGGGCCTTCAGCCAGAGCCCTGCCTCACAGA
TGGGCGGTCGGGCGGGGCTGCACTGCACCCAGGCCTACCCTGTGCGGACCGCGGGCCAGGAGCT
GCCTTTTGCCTATAGCGGGCAGCCAGGTGGCAGTGGGCTCTCTAGTGTGGCTGGACACACCGAT
CTGATCGACTCCCTGCTGAAGAACAGGACTTCAGAGGAGTGGATGAGTGATTTGGACGACCTGT
TAGGGTCTCAGTAATGGAAGGATTTGTAGTGTTTTTAGTGTTCATTCATCCTATATTTTTATTC
TCAGATTCAAAGAAAGAGCAACTACTTTGGACCAAAAGCCCATGGCCTGGGGAGCTGGGCAGGT
AGAGCCCAAGCTCCAGGTGAGGCCTGGCCCTGGGCAGGGTCTGTGGCTGCGCCCCTCAGGCCAG
CAGTTGAGGTCCATCGGGCTGGCCCCAGCCCATCTGCTGGCATCAGTACCTGGTGTTGGGACAG
CAGGATAGGGTTCTAAAGGTGGTTTTCTATCCAAACGACCAAAAAACCAACAGTAACACCAGTG
AAACCCCACACTGTCGGGCTTATAAAAATCTGTGCCATCATGGTGATTTTATCCAAGACTGCTC
CACTTACCCCAGTGCTGGGGACAAGTTTCTGTTGAAACTTTAGATAGCAGAATTATTTGCAATT
TGTAGCATAGAAAAGATTTTTAAATTTTTTTACAAAAGGTTTTTAAACAGATTAGGGTAGGTGA
TGGTTTAAATCAATTAAGTGGCATTGGAAACCTAGGGTTTCCTTTTGATTAAGAGCCTTTTTTG
TTTCTGCTCTTTGTCAGCTTTCAGGGGAGAAGGAGGCCACTGGAAAATTATTTCCCTAAGTGCA
GGCTGTTGACTGCGTATGCCAAAAAGGGACAGGAGGCATGGGATAGCAGGTCTGGTGACACAGC
TAGGGTCTTCCTAGCAGCTCCTCCTCCTCCCTCCCAAGGCCCCCAGGAATCCCTTCCTCCCATG
TCCTGGCAGCAGGACCCCAGGCTACATATGGAAGGTAGAGATGTGGGGGTCCTGTATCCTGGAG
TATTATGTCTCCCCACCTTCTGCAGTTTTCTCTGAACATGTATGTTGCCCATGGTGGGAGCGTG
GTCACTGTGCAGTTGTGCACAGATGTCTTTCCTTTACCGTTGGCCTTTCTGTCTGCCTCTCCTT
CCTCTCTGCAGCCCAAATGGAAAACAATTATTTACTCCATTGGAGGGAAAGGAAGAGTCTTAGA
ATTCCTAAGGGAACCTTAGCATAAAGGTTTTGGGGAAGGAGGCCGTAGGCCGGCCCGGAGGAAG
CAATTCCACTTGGTTTGACAACTTCTGCCACTCCCATGTCAGATGACTTGCACTTCTTAAAGAG
ATTGCTTTATAACACTAAGACATCCTTTCTAAAGATTCAAGTGGACTTGACTAAGCTGAGGGTC
CACGAAATAGAATATGACATGTGAGCTGTTTTTGGAAAACGAAGATGGAGAGAGCACTTCCCCG
TAACGAAAGCAAAGTGGTAAGCACAGGGTGAGACCCTTTTACACAGAATGGTGGAGAGAAAAGA
GAATGCTGAAAAGTGGCTCAGATGCAGAGTGTTCTGTGGAGAAACTGCAGCCCCACTTCTGTTT
CCCTGGAGTCTCCCAATGGATCATTCAGGAGTGTCCTATGTGAGAATTGAGCCAAGGAAAATAC
TCATGCAACCAGCCTGAGTCGCGGTGAGGGGACGAGAGGTTGTACACACATTGGTAGTTATTTT
GCACCAGCAGTGCCTTTCTCACTGGGGGTACTTGGACCCTCAGATCTTCTTTTCTAATAGCCAT
TTGCCACCCCAAGTGGTATGTCGGCCATTTCTCCTTAAAACACCTTCCCTACCTTTCCCATGTA
CTCAGTTTAGCTCTCAAAGAAGGGGTGAATCATAAAGCCAGTGAAAATTTCACCCTCTGAGGGA
GTTCCCCAATCTGAAGGGGAAGAGGGTGACCTCAGCGGCTTTTCTCCCAAAAATCGGCTGAAGG
CTGGTTGTGGATCCTTGTTCCTCTCCTGACCCCATCTGGCTGCTGCCCCGTCTCCCACCCCTGT
CCCCGGGGCTCGCTGGCCCTGCACTCCGCCTTAGTCCTGGGGCCGGCGACACAGTGGGGGCTCC
TCACTTGCTGCAGTGTCATAGCAATAAAATGTGATTCTTGGGGTCCCCCCAGGGAGCTGCCCAT
GGCTTTATTTATGAACCTGGTTTTCGGGAGTCAGGGGAGGAGATGACTTTGCTTCTGTGCACAG
CCCCGTCTTCCAGGAGCCACAACTCAGAAGAAAAGGGTGCTCAGACTTTTGTTATACACATTTG
CTTTGTGTAAATAAATGTTTACAATTTTATATGAAAGATGGAATAAGCGCTAGAGCTTCCAACT
GTATATTTTTTACTTTTATAGATTTTAAAACTATGATCCTTTATATGTGTGTTTTGGGGGAGCT
ATGATAAGTTTTATGGCAAACGGTTGGTATTGTTAACTTTTTATTGTCATCAAAAGTTCATAAA
AGTCCTATTAATCCCCATATTCTTCTACTGCCCTTAACTCTGGTATACACCAAAAAGAAATCTT
TACTTTCCTTGTTTTATCATTATAAAAATAAAGTATTTTGCTAGTATGGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_055572	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF34658	(Get FASTA)	NCBI Sequence Viewer
	BAA12114	(Get FASTA)	NCBI Sequence Viewer
	BAD92372	(Get FASTA)	NCBI Sequence Viewer
	BAH11986	(Get FASTA)	NCBI Sequence Viewer
	EAW53801	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000292599
	ENSP00000292599.3
	ENSP00000491444.1
GenBank Protein	Q92585	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_055572 ⟸ NM_014757

- UniProtKB:

Q9NZ12 (UniProtKB/Swiss-Prot), Q92585 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MVLPTCPMAEFALPRHSAVMERLRRRIELCRRHHSTCEARYEAVSPERLELERQHTFALHQRCI
QAKAKRAGKHRQPPAATAPAPAAPAPRLDAADGPEHGRPATHLHDTVKRNLDSATSPQNGDQQN
GYGDLFPGHKKTRREAPLGVAISSNGLPPASPLGQSDKPSGADALQSSGKHSLGLDSLNKKRLA
DSSLHLNGGSNPSESFPLSLNKELKQEPVEDLPCMITGTVGSISQSNLMPDLNLNEQEWKELIE
ELNRSVPDEDMKDLFNEDFEEKKDPESSGSATQTPLAQDINIKTEFSPAAFEQEQLGSPQVRAG
SAGQTFLGPSSAPVSTDSPSLGGSQTLFHTSGQPRADNPSPNLMPASAQAQNAQRALAGVVLPS
QGPGGASELSSAHQLQQIAAKQKREQMLQNPQQATPAPAPGQMSTWQQTGPSHSSLDVPYPMEK
PASPSSYKQDFTNSKLLMMPSVNKSSPRPGGPYLQPSHVNLLSHQPPSNLNQNSANNQGSVLDY
GNTKPLSHYKADCGQGSPGSGQSKPALMAYLPQQLSHISHEQNSLFLMKPKPGNMPFRSLVPPG
QEQNPSSVPVQAQATSVGTQPPAVSVASSHNSSPYLSSQQQAAVMKQHQLLLDQQKQREQQQKH
LQQQQFLQRQQHLLAEQEKQQFQRHLTRPPPQYQDPTQGSFPQQVGQFTGSSAAVPGMNTLGPS
NSSCPRVFPQAGNLMPMGPGHASVSSLPTNSGQQDRGVAQFPGSQNMPQSSLYGMASGITQIVA
QPPPQATNGHAHIPRQTNVGQNTSVSAAYGQNSLGSSGLSQQHNKGTLNPGLTKPPVPRVSPAM
GGQNSSWQHQGMPNLSGQTPGNSNVSPFTAASSFHMQQQAHLKMSSPQFSQAVPNRPMAPMSSA
AAVGSLLPPVSAQQRTSAPAPAPPPTAPQQGLPGLSPAGPELGAFSQSPASQMGGRAGLHCTQA
YPVRTAGQELPFAYSGQPGGSGLSSVAGHTDLIDSLLKNRTSEEWMSDLDDLLGSQ

hide sequence

Ensembl Acc Id:

ENSP00000292599 ⟸ ENST00000292599

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q92585-F1-model_v2	AlphaFold	Q92585	1-1016	view protein structure

Promoters

RGD ID:

6803351

Promoter ID:

HG_KWN:51994

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000376951, NM_014757, UC003MKN.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	179,091,656 - 179,093,027 (+)	MPROMDB

RGD ID:

6871788

Promoter ID:

EPDNEW_H9059

Type:

multiple initiation site

Name:

MAML1_1

Description:

mastermind like transcriptional coactivator 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	179,732,831 - 179,732,891	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13632	AgrOrtholog
COSMIC	MAML1	COSMIC
Ensembl Genes	ENSG00000161021	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000283780	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000292599	ENTREZGENE
	ENST00000292599.4	UniProtKB/Swiss-Prot
	ENST00000638220.2	UniProtKB/Swiss-Prot
Gene3D-CATH	6.10.250.970	UniProtKB/Swiss-Prot
GTEx	ENSG00000161021	GTEx
	ENSG00000283780	GTEx
HGNC ID	HGNC:13632	ENTREZGENE
Human Proteome Map	MAML1	Human Proteome Map
InterPro	MAML1-3	UniProtKB/Swiss-Prot
	MAML1_3_TAD1	UniProtKB/Swiss-Prot
	MAML1_3_TAD2	UniProtKB/Swiss-Prot
	MAML_N_sf	UniProtKB/Swiss-Prot
	Neuroggenic_mastermind-like_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:9794	UniProtKB/Swiss-Prot
NCBI Gene	9794	ENTREZGENE
OMIM	605424	OMIM
PANTHER	MASTERMIND-LIKE PROTEIN 1	UniProtKB/Swiss-Prot
	PTHR15692	UniProtKB/Swiss-Prot
Pfam	MamL-1	UniProtKB/Swiss-Prot
	MAML1_3_TAD1	UniProtKB/Swiss-Prot
	MAML1_3_TAD2	UniProtKB/Swiss-Prot
PharmGKB	PA30569	PharmGKB
SMART	MamL-1	UniProtKB/Swiss-Prot
UniProt	MAML1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q9NZ12	ENTREZGENE
UniProt Secondary	Q9NZ12	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	MAML1	mastermind like transcriptional coactivator 1	MAML1	mastermind-like transcriptional coactivator 1	Symbol and/or name change	5135510	APPROVED
2015-08-11	MAML1	mastermind-like transcriptional coactivator 1	MAML1	mastermind-like 1 (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)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - ClinVar