Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	221927
Gene name Gene Name - the full gene name approved by the HGNC.	BRCA1 associated ATM activator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BRAT1
Synonyms (NCBI Gene) Gene synonyms aliases	BAAT1, C7orf27, NEDCAS, RMFSL
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p22.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signall

Show/Hide all(31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61729932	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 3 prime UTR variant, missense variant, coding sequence variant
rs61753094	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs140833277	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs145833100	C>T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs147005619	T>A	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs147745609	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs200502048	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs727505363	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs727505364	GA>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727505365	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs730880324	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs749240175	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs754341393	G>-,GG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs756489141	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs759216914	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs763527391	ACAA>-	Likely-pathogenic, uncertain-significance	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs773772842	CA>-	Pathogenic	Inframe indel, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained, upstream transcript variant
rs776913277	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs794729222	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, stop gained
rs869312931	C>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs886039312	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796877	C>T	Pathogenic	Coding sequence variant, splice acceptor variant, synonymous variant
rs1085307958	A>G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1131691679	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1224820591	TCCCCACCACCGTACCGTGGGGCTGGAGCCGGGGCTCTCGA>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1450676893	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs1554293869	CGAGGGCGGAGTCCCTCACCTC>GA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554295159	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1554296088	->ATCTTCTC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554297097	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1562596651	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained

Show/Hide all(65)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016937	hsa-miR-335-5p	Microarray	18185580
MIRT051289	hsa-miR-16-5p	CLASH	23622248
MIRT050026	hsa-miR-27a-3p	CLASH	23622248
MIRT046452	hsa-miR-15b-5p	CLASH	23622248
MIRT046230	hsa-miR-27b-3p	CLASH	23622248
MIRT041857	hsa-miR-484	CLASH	23622248
MIRT038295	hsa-miR-130b-5p	CLASH	23622248
MIRT823987	hsa-miR-1233	CLIP-seq
MIRT823988	hsa-miR-1587	CLIP-seq
MIRT823989	hsa-miR-186	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823991	hsa-miR-3133	CLIP-seq
MIRT823992	hsa-miR-3135b	CLIP-seq
MIRT823993	hsa-miR-3167	CLIP-seq
MIRT823994	hsa-miR-3652	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT823996	hsa-miR-378g	CLIP-seq
MIRT823997	hsa-miR-4283	CLIP-seq
MIRT823998	hsa-miR-4292	CLIP-seq
MIRT823999	hsa-miR-4318	CLIP-seq
MIRT824000	hsa-miR-4430	CLIP-seq
MIRT824001	hsa-miR-4489	CLIP-seq
MIRT824002	hsa-miR-4492	CLIP-seq
MIRT824003	hsa-miR-4498	CLIP-seq
MIRT824004	hsa-miR-4505	CLIP-seq
MIRT824005	hsa-miR-4648	CLIP-seq
MIRT824006	hsa-miR-4654	CLIP-seq
MIRT824007	hsa-miR-4656	CLIP-seq
MIRT824008	hsa-miR-4675	CLIP-seq
MIRT824009	hsa-miR-4729	CLIP-seq
MIRT824010	hsa-miR-4741	CLIP-seq
MIRT824011	hsa-miR-4769-5p	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824014	hsa-miR-548g	CLIP-seq
MIRT824015	hsa-miR-548u	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT824017	hsa-miR-762	CLIP-seq
MIRT824018	hsa-miR-876-5p	CLIP-seq
MIRT1545787	hsa-miR-133a	CLIP-seq
MIRT1545788	hsa-miR-133b	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq
MIRT1545790	hsa-miR-4287	CLIP-seq
MIRT1545791	hsa-miR-4685-3p	CLIP-seq
MIRT1545792	hsa-miR-4780	CLIP-seq
MIRT1545793	hsa-miR-623	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT823990	hsa-miR-224	CLIP-seq
MIRT823993	hsa-miR-3167	CLIP-seq
MIRT823995	hsa-miR-374c	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq
MIRT823999	hsa-miR-4318	CLIP-seq
MIRT824005	hsa-miR-4648	CLIP-seq
MIRT824006	hsa-miR-4654	CLIP-seq
MIRT824011	hsa-miR-4769-5p	CLIP-seq
MIRT824012	hsa-miR-499-3p	CLIP-seq
MIRT824013	hsa-miR-499a-3p	CLIP-seq
MIRT824014	hsa-miR-548g	CLIP-seq
MIRT824016	hsa-miR-655	CLIP-seq
MIRT824018	hsa-miR-876-5p	CLIP-seq
MIRT1545789	hsa-miR-3907	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	22977523
GO:0005515	Function	Protein binding	IPI	16452482, 22977523, 25631046, 25657994, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	39032489
GO:0005634	Component	Nucleus	IDA	16452482, 25631046
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	39032489
GO:0005737	Component	Cytoplasm	IDA	25631046
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	39032490
GO:0006006	Process	Glucose metabolic process	IMP	25070371
GO:0006915	Process	Apoptotic process	IMP	25070371
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	25631046
GO:0008283	Process	Cell population proliferation	IEA
GO:0008283	Process	Cell population proliferation	IMP	25070371
GO:0008428	Function	Ribonuclease inhibitor activity	IDA	39032489, 39032490
GO:0010212	Process	Response to ionizing radiation	IMP	16452482
GO:0016020	Component	Membrane	HDA	19946888
GO:0016477	Process	Cell migration	IMP	25070371
GO:0030307	Process	Positive regulation of cell growth	IMP	25070371
GO:0034504	Process	Protein localization to nucleus	IDA	39032489
GO:0051646	Process	Mitochondrion localization	IMP	25070371
GO:0160234	Process	Integrator complex assembly	IDA	39032489, 39032490

MIM	HGNC	e!Ensembl
614506	21701	ENSG00000106009

Protein

UniProt ID

Q6PJG6

Protein name

Integrator complex assembly factor BRAT1 (BRCA1-associated ATM activator 1) (BRCA1-associated protein required for ATM activation protein 1)

Protein function

Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489, PubMed:39032490). Associates with INTS9 and INTS11 in the cytoplasm and blocks the active site of INTS11 to

PDB

4IFI , 8R22 , 8R23 , 8R2D , 8UIB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02985	HEAT	501 → 531	HEAT repeat	Repeat
PF02985	HEAT	546 → 576	HEAT repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:16452482}.

Sequence

MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGESSVVLLQEHPCLVELLS
HVLKVQDLSSGVLSFSLRLAGTFAAQENCFQYLQQGELLPGLFGEPGPLGRATWAVPTVR
SGWIQGLRSLAQHPSALRFLADHGAVDTIFSLQGDSSLFVASAASQLLVHVLALSMRGGA
EGQPCLPGGDWPACAQKIMDHVEESLCSAATPKVTQALNVLTTTFGRCQSPWTEALWVRL
SPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSDGSLWETVARALSCLGPTHMGPLAL
GILKLEHCPQALRTQAFQVLLQPLACVLKATVQAPGPPGLLDGTADDATTVDTLLASKSS
CAGLLCRTLAHLEELQPLPQRPSPWPQASLLGATVTVLRLCDGSAAPASSVGGHLCGTLA
GCVRVQRAALDFLGTLSQGTGPQELVTQALAVLLECLESPGSSPTVLKKAFQATLRWLLS
SPKTPGCSDLGPLIPQFLRELFPVLQKRLCHPCWEVRDSALEFLTQLSRHWGGQADFRCA
LLASEVPQLALQLLQDPESYVRASAVTAMGQLSSQGLHAPTSPEHAEARQSLFLELLHIL
SVDSEGFPRRAVMQVFTEWLRDGHADAAQDTEQFVATVLQAASRDLDWEVRAQGLELALV
FLGQTLGPPRTHCPYAVALPEVAPAQPLTEALRALCHVGLFDFAFCALFDCDRPVAQKSC
DLLLFLRDKIASYSSLREARGSPNTASAEATLPRWRAGEQAQPPGDQEPEAVLAMLRSLD
LEGLRSTLAESSDHVEKSPQSLLQDMLATGGFLQGDEADCY

Sequence length

821

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	neurodevelopmental disorder with cerebellar atrophy and with or without seizures	rs730880324, rs869312931, rs776913277, rs763527391, rs1085307958, rs200502048, rs749240175	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Encephalopathy	neonatal-onset encephalopathy with rigidity and seizures	N/A	N/A	GenCC
Mental retardation	intellectual disability	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Apnea	Associate	33040300
Apraxias	Associate	28635423, 35360849
Ataxia	Associate	35360849
Atrophy	Associate	26947546
Bradycardia	Associate	33040300
Brain Diseases	Associate	26947546, 29997391, 30786674, 33040300, 36599696
Central Nervous System Diseases	Associate	30786674
Cerebellar Ataxia	Associate	28635423
Cerebellar Diseases	Associate	28635423, 33040300, 35360849
Death	Associate	26947546, 31868227, 35360849
Developmental Disabilities	Associate	28635423, 33040300
Drug Resistant Epilepsy	Associate	35360849
Epilepsy	Associate	34153113
Esotropia	Associate	28635423
Head and Neck Neoplasms	Associate	33040300
Heredodegenerative Disorders Nervous System	Associate	36028512
Intellectual Disability	Associate	28635423, 35360849
Kozlowski Tsuruta Taki syndrome	Associate	37344571
Microcephaly	Associate	28635423, 30786674, 31868227, 35360849
Multifocal Choroiditis	Associate	23035047, 26947546, 28635423, 31868227, 37344571
Muscle Hypertonia	Associate	31868227
Muscle Rigidity	Associate	23035047, 26947546, 28635423, 31868227, 33040300, 35360849, 36367347, 37344571
Neurodegenerative Diseases	Associate	35360849, 36028512
Nystagmus Pathologic	Associate	28635423
Pontocerebellar Hypoplasia	Associate	33040300
Retinal Dystrophies	Associate	28635423
Seizures	Associate	26947546, 28635423, 30786674, 31618474, 31868227, 33040300
Spinocerebellar Degenerations	Associate	33040300
Syndrome	Associate	36367347
Vision Disorders	Associate	28635423

BRAT1 (BRCA1 associated ATM activator 1)