Gene Gene information from NCBI Gene database.
Entrez ID 254065
Gene name Bromodomain and WD repeat domain containing 3
Gene symbol BRWD3
Synonyms (NCBI Gene)
BRODLDCAF20MRX93XLID93
Chromosome X
Chromosome location Xq21.1
Summary The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilitie
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs137853272 T>C,G Pathogenic Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs138240307 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs730882185 C>A Pathogenic Splice donor variant, genic downstream transcript variant
rs730882186 ->T Pathogenic Non coding transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs758800773 T>A,C Pathogenic Missense variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
515
miRTarBase ID miRNA Experiments Reference
MIRT043868 hsa-miR-378a-3p CLASH 23622248
MIRT559168 hsa-miR-511-3p PAR-CLIP 20371350
MIRT559167 hsa-miR-567 PAR-CLIP 20371350
MIRT494475 hsa-miR-223-5p PAR-CLIP 20371350
MIRT559165 hsa-miR-6867-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IBA
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA
GO:0007010 Process Cytoskeleton organization IBA
GO:0007010 Process Cytoskeleton organization IMP 21834987
GO:0008360 Process Regulation of cell shape IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300553 17342 ENSG00000165288
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6RI45
Protein name Bromodomain and WD repeat-containing protein 3
Protein function Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 169 207 WD domain, G-beta repeat Repeat
PF00400 WD40 212 250 WD domain, G-beta repeat Repeat
PF00400 WD40 254 296 WD domain, G-beta repeat Repeat
PF00400 WD40 352 392 WD domain, G-beta repeat Repeat
PF00400 WD40 455 494 WD domain, G-beta repeat Repeat
PF00439 Bromodomain 1147 1233 Bromodomain Domain
PF00439 Bromodomain 1309 1418 Bromodomain Domain
Tissue specificity TISSUE SPECIFICITY: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined. {ECO:0000269|PubMed:15543602}.
Sequence
MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDL
VAANAHIPPDYLLKICERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGS
AFAALHRGRPPELPVNYVKPPNVVNITSARQLTGCSRFGHIFPSSAYQHIKMHKRILGHL
SSVYCVAFDRSGRRIFTGSDDCLVKIW
ATDDGRLLATLRGHSAEISDMAVNYENTLIAAG
SCDKVVRVWC
LRTCAPVAVLQGHSASITSIQFCPSTKGTNRYLTSTGADGTICFWQWHVK
TMKFRDRPVKFTERSRPGVQISCSSFSSGGMFITTGSTDHVIRIYYLGSEVPEKIAELES
HTDKVVAVQFCNNGDSLRFVSGSRDGTARIWQ
YQQQEWKSIVLDMATKMTGNNLPSGEDK
ITKLKVTMVAWDRYDTTVITAVNNFLLKVWNSITGQLLHTLSGHDDEVFVLEAHPFDQRI
ILSAGHDGNIFIWD
LDRGTKIRNYFNMIEGQGHGAVFDCKFSPDGNHFACTDSHGHLLLF
GFGCSKYYEKIPDQMFFHTDYRPLIRDANNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTK
FQRLVPGRENCKDEQLIPQLGYVANGDGEVVEQVIGQQTNDQDESILDGIIRELQREQDL
RLINEGDVPHLPVNRAYSVNGALRSPNMDISSSPNIRLRRHSSQIEGVRQMHNNAPRSQM
ATERDLMAWSRRVVVNELNNGVSRVQEECRTAKGDIEISLYTVEKKKKPSYTTQRNDYEP
SCGRSLRRTQRKRQHTYQTRSNIEHNSQASCQNSGVQEDSDSSSEEDETVGTSDASVEDP
VVEWQSESSSSDSSSEYSDWTADAGINLQPPKRQTRQTTRKICSSSDEENLKSLEERQKK
PKQTRKKKGGLVSIAGEPNEEWFAPQWILDTIPRRSPFVPQMGDELIYFRQGHEAYVRAV
RKSKIYSVNLQKQPWNKMDLREQEFVKIVGIKYEVGPPTLCCLKLAFLDPISGKMTGESF
SIKYHDMPDVIDFLVLHQFYNEAKERNWQIGDRFRSIIDDAWWFGTVESQQPFQPEYPDS
SFQCYSVHWDNNEREKMSPWDMEPIPEGTAFPDEVGAGVPVSQEELTALLYKPQEGEWGA
HSRDEECERVIQGINHLLSLDFASPFAVPVDLSAYPLYCTVVAYPTDLNTIRRRLENRFY
RRISALMWEVRYIEHNARTFNEPDSPIVKAAKI
VTDVLLRFIGDQSCTDILDTYNKIKAE
ERNSTDAEEDTEIVDLDSDGPGTSSGRKVKCRGRRQSLKCNPDAWKKQCKELLSLIYERE
DSEPFRQPADLLSYPGHQEQEGESSESVVPERQQDSSLSEDYQDVIDTPVDFSTVKETLE
AGNYGSPLEFYKDVRQIFNNSKAYTSNKKSRIYSMMLR
LSALFESHIKNIISEYKSAIQS
QKRRRPRYRKRLRSSSSSLSSSGAPSPKGKQKQMKLQPKNDQNTSVSHARTSSPFSSPVS
DAAEGLSLYLLDDEPDGPFSSSSFGGYSRSGNSHDPGKAKSFRNRVLPVKQDHSLDGPLT
NGDGREPRTGIKRKLLSASEEDENMGGEDKEKKETKEKSHLSTSESGELGSSLSSESTCG
SDSDSESTSRTDQDYVDGDHDYSKFIQTRPKRKLRKQHGNGKRNWKTRGTGGRGRWGRWG
RWSRGGRGRGGRGRGSRGRGGGGTRGRGRGRGGRGASRGATRAKRARIADDEFDTMFSGR
FSRLPRIKTRNQGRRTVLYNDDSDNDNFVSTEDPLNLGTSRSGRVRKMTEKARVSHLMGW
NY
Sequence length 1802
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
259
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BRWD3-related disorder Likely pathogenic rs2520212243 RCV004534299
Intellectual disability Pathogenic rs1602308324 RCV000850218
Intellectual disability, X-linked 93 Likely pathogenic; Pathogenic rs2147755986, rs750080794, rs866592729, rs2147693460, rs2521148248, rs878853055, rs2520422667, rs746536339, rs2520223550, rs2520258929, rs730882185, rs730882186, rs137853272, rs2521156554, rs2520219483
View all (4 more)
RCV001780688
RCV001843797
RCV002052427
RCV002052428
RCV002291428
RCV001814124
RCV003128101
RCV003139521
RCV003148525
RCV003222502
RCV000011549
RCV000011550
RCV000011551
RCV003333612
RCV003335966
RCV003622411
RCV000415462
RCV000761506
RCV000768432
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs2147693460 RCV003389186
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs45610632, rs73225394, rs11797881, rs186391561 RCV005917996
RCV005916995
RCV005923574
RCV005891065
Autism spectrum disorder Uncertain significance rs2520208519 RCV003128007
BRWD3-related X-linked syndromic intellectual disability Uncertain significance rs1344040839 RCV001270718
Cervical cancer Benign; Likely benign rs73225394, rs186391561 RCV005916997
RCV005891066
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 39190898
Azoospermia Nonobstructive Associate 36017582
Breast Neoplasms Stimulate 22024541
Breast Neoplasms Associate 33617509
Developmental Disabilities Associate 24372385
Ear Diseases Associate 17668385
Epilepsies Partial Associate 36514184
Epilepsy Associate 24372385, 36514184
Epilepsy Rolandic Associate 24372385
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp Associate 24372385