ABT1 (activator of basal transcription 1)

Gene: ABT1 (activator of basal transcription 1) Homo sapiens

Analyze

Symbol:

ABT1

Name:

activator of basal transcription 1

RGD ID:

1321888

HGNC Page

HGNC:17369

Description:

Enables RNA binding activity. Predicted to be involved in ribosomal small subunit biogenesis. Predicted to act upstream of or within regulation of transcription by RNA polymerase II and spinal cord motor neuron differentiation. Predicted to be located in nucleus. Predicted to be part of transcription regulator complex. Predicted to be active in nucleolus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

basal transcriptional activator; Esf2; hABT1; TATA-binding protein-binding protein

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Abt1 (activator of basal transcription 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Abt1 (activator of basal transcription 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Abt1 (activator of basal transcription 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ABT1 (activator of basal transcription 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	ABT1 (activator of basal transcription 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Abt1 (activator of basal transcription 1)	NCBI	Ortholog
Sus scrofa (pig):	ABT1 (activator of basal transcription 1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	ABT1 (activator of basal transcription 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Abt1 (activator of basal transcription 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Swi5 (SWI5 homologous recombination repair protein)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Abt1 (activator of basal transcription 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Abt1 (activator of basal transcription 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	abt1 (activator of basal transcription 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG10993	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG32706	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG32708	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG40813	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG41562	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG6999	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	ESF2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER)
Caenorhabditis elegans (roundworm):	F57B10.8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Related Pseudogenes:

ABT1P1

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	6	26,596,953 - 26,600,739 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	26,596,953 - 26,600,739 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	26,597,181 - 26,600,967 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	26,705,159 - 26,708,257 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	26,705,158 - 26,708,257	NCBI
Celera	6	27,826,511 - 27,829,609 (+)	NCBI		Celera
Cytogenetic Map	6	p22.2	NCBI
HuRef	6	26,540,379 - 26,543,486 (+)	NCBI		HuRef
CHM1_1	6	26,599,250 - 26,602,357 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	26,465,388 - 26,469,174 (+)	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

Disease Progression (EXP)

genetic disease (IAGP)

Stomach Neoplasms (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

5-aza-2'-deoxycytidine (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

CGP 52608 (EXP)

copper(II) sulfate (EXP)

ethanol (ISO)

flutamide (ISO)

FR900359 (EXP)

fulvestrant (EXP)

lead(0) (EXP)

melphalan (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

silver atom (ISO)

silver(0) (ISO)

sunitinib (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (IBA,IEA)

endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (IBA,IEA)

endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (IBA,IEA)

positive regulation of DNA-templated transcription (IEA)

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

small-subunit processome assembly (IBA,IEA)

spinal cord motor neuron differentiation (IEA,ISO)

transcription by RNA polymerase II (TAS)

Cellular Component

nucleolus (IBA,IEA)

nucleus (IEA,TAS)

transcription regulator complex (IEA)

Molecular Function

DNA binding (IEA)

nucleic acid binding (IEA)

protein binding (IPI)

RNA binding (HDA,IBA,IEA)

transcription coactivator activity (TAS)

References

References - curated

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

Additional References at PubMed

PMID:10648625	PMID:11790298	PMID:12477932	PMID:14574404	PMID:15489334	PMID:15635413	PMID:18482256	PMID:19299493	PMID:21081503	PMID:21145461	PMID:21244100	PMID:21873635
PMID:22658674	PMID:22681889	PMID:23080069	PMID:25416956	PMID:26186194	PMID:26344197	PMID:26496610	PMID:27634302	PMID:27926873	PMID:28186131	PMID:28514442	PMID:29298432
PMID:29499938	PMID:29568061	PMID:31091453	PMID:31586073	PMID:31796584	PMID:32296183	PMID:32416067	PMID:32513696	PMID:32814053	PMID:33022573	PMID:33536335	PMID:33961781
PMID:34244565	PMID:34373451	PMID:34921745	PMID:35013218	PMID:35271311	PMID:35337019	PMID:35850772	PMID:35864588	PMID:35944360	PMID:36217030	PMID:36232890	PMID:36244648
PMID:36424410	PMID:36526897	PMID:36574265	PMID:36912080

Genomics

Comparative Map Data

ABT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	26,596,953 - 26,600,739 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	26,596,953 - 26,600,739 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	26,597,181 - 26,600,967 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	26,705,159 - 26,708,257 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	26,705,158 - 26,708,257	NCBI
Celera	6	27,826,511 - 27,829,609 (+)	NCBI		Celera
Cytogenetic Map	6	p22.2	NCBI
HuRef	6	26,540,379 - 26,543,486 (+)	NCBI		HuRef
CHM1_1	6	26,599,250 - 26,602,357 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	26,465,388 - 26,469,174 (+)	NCBI		T2T-CHM13v2.0

Abt1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	23,602,531 - 23,608,036 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	23,602,531 - 23,608,036 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	23,418,361 - 23,423,866 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	23,418,361 - 23,423,866 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	23,510,230 - 23,515,735 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	23,425,826 - 23,431,331 (-)	NCBI		MGSCv36	mm8
Celera	13	23,650,968 - 23,656,469 (-)	NCBI		Celera
Cytogenetic Map	13	A3.1	NCBI
cM Map	13	9.65	NCBI

Abt1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	42,127,173 - 42,129,281 (+)	NCBI		GRCr8
mRatBN7.2	17	41,699,151 - 41,701,253 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	41,699,147 - 41,701,259 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	41,778,950 - 41,781,044 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	43,383,002 - 43,385,096 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	41,658,404 - 41,660,498 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	43,946,118 - 43,948,224 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	43,946,130 - 43,948,223 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	45,800,799 - 45,802,896 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	48,901,759 - 48,903,853 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	48,903,825 - 48,906,661 (+)	NCBI
Celera	17	41,329,917 - 41,332,011 (+)	NCBI		Celera
Cytogenetic Map	17	p11	NCBI

Abt1
(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_004955483	307,893 - 310,932 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955483	307,893 - 310,932 (-)	NCBI	ChiLan1.0	ChiLan1.0

ABT1
(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	5	41,241,413 - 41,245,228 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	37,242,909 - 37,252,640 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	26,428,906 - 26,432,706 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	27,086,465 - 27,088,668 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	27,086,465 - 27,088,668 (+)	Ensembl	panpan1.1		panPan2

ABT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	35	24,357,502 - 24,360,731 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	35	24,357,460 - 24,359,318 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	35	24,214,359 - 24,217,582 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	35	24,541,116 - 24,544,341 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	35	24,541,068 - 24,544,440 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	35	24,322,029 - 24,325,257 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	35	24,373,956 - 24,377,179 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	35	25,838,596 - 25,841,815 (+)	NCBI		UU_Cfam_GSD_1.0

Abt1
(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_024404946	1,357,455 - 1,363,202 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936671	2,258,338 - 2,259,593 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936671	2,258,373 - 2,260,941 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ABT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	21,024,635 - 21,027,794 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	21,024,641 - 21,027,815 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	22,544,467 - 22,547,619 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ABT1
(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	17	45,617,425 - 45,619,634 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	45,616,617 - 45,619,681 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	26,530,509 - 26,532,712 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Abt1
(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_004624756	307,444 - 310,553 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624756	303,723 - 310,479 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ABT1
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]\|See cases [RCV000052180]	Chr6:18120520..30767516 [GRCh38] Chr6:18120751..30735293 [GRCh37] Chr6:18228730..30843272 [NCBI36] Chr6:6p22.3-21.33	pathogenic
GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	copy number gain	See cases [RCV000133692]	Chr6:26280579..28727313 [GRCh38] Chr6:26280807..28695090 [GRCh37] Chr6:26388786..28803069 [NCBI36] Chr6:6p22.2-22.1	uncertain significance
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	copy number gain	See cases [RCV000138956]	Chr6:3224310..30657190 [GRCh38] Chr6:3224544..30624967 [GRCh37] Chr6:3169543..30732946 [NCBI36] Chr6:6p25.2-21.33	pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207103]	Chr6:26545571..27115102 [GRCh37] Chr6:6p22.2-22.1	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_013375.4(ABT1):c.64A>T (p.Thr22Ser)	single nucleotide variant	Inborn genetic diseases [RCV003294942]	Chr6:26597046 [GRCh38] Chr6:26597274 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.554A>G (p.Tyr185Cys)	single nucleotide variant	Inborn genetic diseases [RCV003257337]	Chr6:26598380 [GRCh38] Chr6:26598608 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3	copy number gain	not provided [RCV000682657]	Chr6:26178542..26670193 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.2(chr6:26465768-26665235)x3	copy number gain	not provided [RCV000745561]	Chr6:26465768..26665235 [GRCh37] Chr6:6p22.2	benign
NM_013375.4(ABT1):c.62A>G (p.Gln21Arg)	single nucleotide variant	Inborn genetic diseases [RCV003249953]	Chr6:26597044 [GRCh38] Chr6:26597272 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.623C>G (p.Ser208Cys)	single nucleotide variant	Inborn genetic diseases [RCV003240218]	Chr6:26598449 [GRCh38] Chr6:26598677 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:26345595-26601092)x3	copy number gain	not provided [RCV001258731]	Chr6:26345595..26601092 [GRCh37] Chr6:6p22.2	uncertain significance
GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	copy number gain	not provided [RCV001258882]	Chr6:26046566..26670193 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.173G>A (p.Arg58Gln)	single nucleotide variant	Inborn genetic diseases [RCV003307240]	Chr6:26597155 [GRCh38] Chr6:26597383 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.74C>T (p.Ala25Val)	single nucleotide variant	Inborn genetic diseases [RCV002991293]	Chr6:26597056 [GRCh38] Chr6:26597284 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.286G>A (p.Gly96Arg)	single nucleotide variant	Inborn genetic diseases [RCV002668205]	Chr6:26597958 [GRCh38] Chr6:26598186 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.577C>A (p.Gln193Lys)	single nucleotide variant	Inborn genetic diseases [RCV002807528]	Chr6:26598403 [GRCh38] Chr6:26598631 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.730C>T (p.Arg244Cys)	single nucleotide variant	Inborn genetic diseases [RCV002898241]	Chr6:26598556 [GRCh38] Chr6:26598784 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.547G>A (p.Asp183Asn)	single nucleotide variant	Inborn genetic diseases [RCV002718264]	Chr6:26598373 [GRCh38] Chr6:26598601 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.245G>A (p.Arg82Gln)	single nucleotide variant	Inborn genetic diseases [RCV002718843]	Chr6:26597917 [GRCh38] Chr6:26598145 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.151G>A (p.Gly51Ser)	single nucleotide variant	Inborn genetic diseases [RCV003180551]	Chr6:26597133 [GRCh38] Chr6:26597361 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.595G>A (p.Asp199Asn)	single nucleotide variant	Inborn genetic diseases [RCV003350618]	Chr6:26598421 [GRCh38] Chr6:26598649 [GRCh37] Chr6:6p22.2	uncertain significance
NM_013375.4(ABT1):c.124C>T (p.Arg42Trp)	single nucleotide variant	Inborn genetic diseases [RCV003377381]	Chr6:26597106 [GRCh38] Chr6:26597334 [GRCh37] Chr6:6p22.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	515
Count of miRNA genes:	424
Interacting mature miRNAs:	451
Transcripts:	ENST00000274849
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.

Markers in Region

SHGC-64311

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,599,157 - 26,599,323	UniSTS	GRCh37
Build 36	6	26,707,136 - 26,707,302	RGD	NCBI36
Celera	6	27,828,488 - 27,828,654	RGD
Cytogenetic Map	6	p22.2	UniSTS
HuRef	6	26,542,365 - 26,542,531	UniSTS
TNG Radiation Hybrid Map	6	14343.0	UniSTS

RH80034

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,599,117 - 26,599,325	UniSTS	GRCh37
Build 36	6	26,707,096 - 26,707,304	RGD	NCBI36
Celera	6	27,828,448 - 27,828,656	RGD
Cytogenetic Map	6	p22.2	UniSTS
HuRef	6	26,542,325 - 26,542,533	UniSTS

RH91583

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,599,012 - 26,599,193	UniSTS	GRCh37
GRCh37	4	99,943,153 - 99,943,323	UniSTS	GRCh37
Build 36	4	100,162,176 - 100,162,346	RGD	NCBI36
Celera	4	97,240,629 - 97,240,799	RGD
Celera	6	27,828,343 - 27,828,524	UniSTS
Cytogenetic Map	6	p22.2	UniSTS
Cytogenetic Map	4	q23	UniSTS
HuRef	4	95,682,137 - 95,682,307	UniSTS
HuRef	6	26,542,220 - 26,542,401	UniSTS
GeneMap99-GB4 RH Map	6	111.57	UniSTS

ABT1_3579

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,598,493 - 26,599,211	UniSTS	GRCh37
Build 36	6	26,706,472 - 26,707,190	RGD	NCBI36
Celera	6	27,827,824 - 27,828,542	RGD
HuRef	6	26,541,701 - 26,542,419	UniSTS

SHGC-52907

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	26,600,467 - 26,600,641	UniSTS	GRCh37
Build 36	6	26,708,446 - 26,708,620	RGD	NCBI36
Celera	6	27,829,798 - 27,829,972	RGD
Cytogenetic Map	6	p22.2	UniSTS
HuRef	6	26,543,675 - 26,543,849	UniSTS
TNG Radiation Hybrid Map	6	14343.0	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2253

1718

1406

422

1597

281

3598

971

1574

330

1434

1521

155

1165

2037

Low

186

1273

320

202

354

184

759

1226

2160

751

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_013375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB027258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC270753	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL513548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC048812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC066313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300635	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000274849 ⟹ ENSP00000274849

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	26,596,953 - 26,600,739 (+)	Ensembl

RefSeq Acc Id:

NM_013375 ⟹ NP_037507

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	26,596,953 - 26,600,739 (+)	NCBI
GRCh37	6	26,597,171 - 26,600,278 (+)	ENTREZGENE
Build 36	6	26,705,159 - 26,708,257 (+)	NCBI Archive
Celera	6	27,826,511 - 27,829,609 (+)	RGD
HuRef	6	26,540,379 - 26,543,486 (+)	ENTREZGENE
CHM1_1	6	26,599,250 - 26,602,357 (+)	NCBI
T2T-CHM13v2.0	6	26,465,388 - 26,469,174 (+)	NCBI

Sequence:

show sequence

ACGGCCGTCGTGCCGCTCGTGTCAGTCAACATGGAGGCAGAGGAATCGGAGAAGGCCGCAACGG
AGCAAGAGCCGCTGGAAGGGACAGAACAGACACTAGATGCGGAGGAGGAGCAGGAGGAATCCGA
AGAAGCGGCCTGTGGCAGCAAGAAACGGGTAGTGCCAGGTATTGTGTACCTGGGCCATATCCCG
CCGCGCTTCCGGCCCCTGCACGTCCGCAACCTTCTCAGCGCCTATGGCGAGGTCGGACGCGTCT
TCTTTCAGGCTGAGGACCGGTTCGTGAGACGCAAGAAGAAGGCAGCAGCAGCTGCCGGAGGAAA
AAAGCGGTCCTACACCAAGGACTACACCGAGGGATGGGTGGAGTTCCGTGACAAGCGCATAGCC
AAGCGCGTGGCGGCCAGTCTACACAACACGCCTATGGGTGCCCGCAGGCGCAGCCCCTTCCGTT
ATGATCTTTGGAACCTCAAGTACTTGCACCGTTTCACCTGGTCCCACCTCAGCGAGCACCTCGC
CTTTGAGCGCCAGGTGCGCAGGCAGCGCTTGAGAGCGGAGGTTGCTCAAGCCAAGCGTGAGACC
GACTTCTATCTTCAAAGTGTGGAACGGGGACAACGCTTTCTTGCGGCCGATGGGGACCCTGCTC
GCCCAGATGGCTCCTGGACATTTGCCCAGCGTCCTACTGAGCAGGAACTGAGGGCCCGTAAAGC
AGCACGGCCAGGGGGACGTGAACGGGCTCGCCTGGCAACTGCCCAGGACAAGGCCCGCTCCAAC
AAAGGGCTCCTGGCCAGGATCTTTGGAGCCCCGCCACCCTCAGAGAGCATGGAGGGACCTTCCC
TTGTCAGGGACTCCTGAGGGCCTGGGTGGCCCCTTCCATTTCCTGGCCCTGCTCTGCTTCCTGT
CTACCTCATACTAGAATGATCGTGACTACCCGGGCAGACATTTTACTGTGTTTCTCAGACCAAG
TGTCTACTGATGGCCCAAACATGGAGTTTTGTGGGCTTCCACTGTCCCCACTCCGAACTCCTGT
ATGTGCCTGGCTGAGTCACCTAATTCATACTGTCATACTAGCATAATTATGACTATTGCATATG
CTTGTTTTGTTTGACTCTTGGCTGCCTACGTCTGTAGGGTCCCCTGAAAATCCCACTTCCTGCC
CCCAGAAAGGGCCTTTATTTCCAACTAGGAGGATAATGCCTAGTCCAGGCAATCTTTCTCTGTT
TAGCAGTCACAGGTGAGGGTGGTATTAGCATCTTTTTTATGTAGAAAAAATTGAGTTAATGGGG
TGGACTGGGTTGGGAAGAAATACATTTCCTAATGTATTTATAGAAAATAAAAATATTTTTATGT
GCCTTTTTATTTTTGTTGGTGGGGAGGTCATTGGACAAGTTCCAACTTTCATCTTGTGTTCCCT
TCACCTTCATATCCTGATCTTAGAGCCCCCCTCCCCCTGCCACCCACCTTACTGTTTAACCTGG
ATTTTTTTTTCTATTTAATTTTTGTCTAATATCTTAGCCCAGTTTATCAATCAGTTATCTTAAG
TCAGCATTTTCTAAGCCATTGTTTGAGGAAACAGTGACAATAGGTAATAACACATCTTAGTATT
AAGAGTTTTACAGGCCACTAGTATAAGATAGGCATCGTGGTAGATGCATATAAAGGGTGGAATG
GGAGCCATGGCAGGTCATAGAGTCCTCTCAATGGGAACCTGATTGATGATCACAGTCTTCAGTG
GTGAGTCAGTCCTCACCAAGTTTTCCAGATCATTCCTACAAAGTAAACTGGGAGAATAATAAGT
CTGAAAGAGTGTGGAGTGCTCCCACAATTACAAAGAATGCTTCCTGGGTGGAGTGTTGAGTTGG
AACCATTGTAAAGGTGGGCAAAGCCTAGTAGAGAACCAGTGCACCTCAGGTGCACTTACATATG
GTGGGGCTGAGGCAAAGCAGCCCTGTAGGCTTCAAAGAATCAGTGTAAGCCACTAAAAGGAACT
GAAAACCTAGGTGTCACAATAAACAGTCTACACAGTCTCACGTAGACCAAAATTCTGATCATTT
TCCAGGCTGTTGCATGAAGTGATAGAGTATGATTATAATTTCTGTTTGCTTGTGCTGTTTGTTT
TTGTTTTTCATCTGTCAATGTGATGATCTGTGTTTTATAGGGTAGAGTGGATTTGTCTACTTTG
GCTGTAAAATACCCTAATCACATTATGATCTTGACAGGTGCACTTTACTGGGGAGAATAAAAAG
GACCATACGGTAAAGCTGGTATAACATTTCTCACAACCCACATACCTCTTATACTTGGCACACA
AACTACGTTTCCATTTAGAAACTTTCGTCTTGTTTCTGTTTTTAATTCTTGTGGGTTTGTTTCA
TGTGAATTGTTTCCTCAGATCATTGATGTCTTAAAGTGAAACAGAAAAATCCAGAATCAGAATT
TGACAGGCTGGCATATTCATTTATTCAGAATTCCAAGTGCCCATTGCTACTTCTGCTAGATAAA
GAGATACCAAGGTGAAGAAGAAACTTTCCCTCTAGTTGCTAACAGCTTAGAAAGTACAGTAGAC
ATACTGGGGTTTTATTTAAGACTTTCTTGAATGAAGAAATAAATTGCATTCCCACGGTGGACAG
CGTTAGATAACAGTATGTTCAAGGGCTGGTATTTCAGGGTCCATCTCCAAAACAGTTCTGTACA
AAGAGCTCACACCTGCGGCCAGGCAAGCTAAGTAAGTCACAGGTGGAGTGAGGAATGAGAATAA
ATGGGTGGAAGAAAATATCCTAGGAACTTTCATCTTGACTTTAAGCCCATTGAGTGTAGGAAAA
TAATTTTTTACATCCACAATTTTGTTTCTATTTAAACAGCACTTGTTTTTTTATATGAAGTAAC
TCATTTAATCCACAACTATATAATATTGTTATCCCCCCATTAAAACTGAGCTCAGAGAGATGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_037507	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH48812	(Get FASTA)	NCBI Sequence Viewer
	AAH66313	(Get FASTA)	NCBI Sequence Viewer
	BAA86886	(Get FASTA)	NCBI Sequence Viewer
	CAK32299	(Get FASTA)	NCBI Sequence Viewer
	EAW55591	(Get FASTA)	NCBI Sequence Viewer
	EAW55592	(Get FASTA)	NCBI Sequence Viewer
	EAW55593	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000274849
	ENSP00000274849.1
	ENSP00000517947.1
GenBank Protein	Q9ULW3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_037507 ⟸ NM_013375

- UniProtKB:

Q9ULW3 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MEAEESEKAATEQEPLEGTEQTLDAEEEQEESEEAACGSKKRVVPGIVYLGHIPPRFRPLHVRN
LLSAYGEVGRVFFQAEDRFVRRKKKAAAAAGGKKRSYTKDYTEGWVEFRDKRIAKRVAASLHNT
PMGARRRSPFRYDLWNLKYLHRFTWSHLSEHLAFERQVRRQRLRAEVAQAKRETDFYLQSVERG
QRFLAADGDPARPDGSWTFAQRPTEQELRARKAARPGGRERARLATAQDKARSNKGLLARIFGA
PPPSESMEGPSLVRDS

hide sequence

RefSeq Acc Id:

ENSP00000274849 ⟸ ENST00000274849

Protein Domains

RRM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9ULW3-F1-model_v2	AlphaFold	Q9ULW3	1-272	view protein structure

Promoters

RGD ID:

6872274

Promoter ID:

EPDNEW_H9302

Type:

initiation region

Name:

ABT1_1

Description:

activator of basal transcription 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	26,596,976 - 26,597,036	EPDNEW

RGD ID:

6803735

Promoter ID:

HG_KWN:52612

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:

ENST00000274849

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	26,704,186 - 26,705,362 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17369	AgrOrtholog
COSMIC	ABT1	COSMIC
Ensembl Genes	ENSG00000146109	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000292169	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000274849	ENTREZGENE
	ENST00000274849.3	UniProtKB/Swiss-Prot
	ENST00000709933.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.70.330	UniProtKB/Swiss-Prot
GTEx	ENSG00000146109	GTEx
	ENSG00000292169	GTEx
HGNC ID	HGNC:17369	ENTREZGENE
Human Proteome Map	ABT1	Human Proteome Map
InterPro	ABT1/Esf2	UniProtKB/Swiss-Prot
	ABT1/ESF2_RRM	UniProtKB/Swiss-Prot
	Nucleotide-bd_a/b_plait_sf	UniProtKB/Swiss-Prot
	RBD_domain_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:29777	UniProtKB/Swiss-Prot
NCBI Gene	29777	ENTREZGENE
OMIM	618750	OMIM
PANTHER	ACTIVATOR OF BASAL TRANSCRIPTION 1	UniProtKB/Swiss-Prot
	PTHR12311	UniProtKB/Swiss-Prot
PharmGKB	PA38451	PharmGKB
Superfamily-SCOP	SSF54928	UniProtKB/Swiss-Prot
UniProt	ABT1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD