Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
254065
Gene name Gene Name - the full gene name approved by the HGNC.
Bromodomain and WD repeat domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRWD3
Synonyms (NCBI Gene) Gene synonyms aliases
BRODL, DCAF20, MRX93, XLID93
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300553 17342 ENSG00000165288
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs1602308324 N/A
Mental Retardation, X-Linked Intellectual disability, X-linked 93 rs137853272, rs878853055, rs1057518650, rs1602311804, rs1569290395, rs730882185, rs730882186 N/A
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.
Disease merge term Disease name Evidence References Source
developmental delay Developmental delay N/A N/A ClinVar
Epilepsy self-limited epilepsy with centrotemporal spikes N/A N/A GenCC
Infantile Spasms infantile spasms N/A N/A GenCC
Associations from Text Mining Disease 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