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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80816
Gene name Gene Name - the full gene name approved by the HGNC.	ASXL transcriptional regulator 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ASXL3
Synonyms (NCBI Gene) Gene synonyms aliases	BRPS, KIAA1713
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcrip

Show/Hide all(73)

SNP ID	Visualize variation	Clinical significance	Consequence
rs190659120	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs376997378	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs377619533	C>A,T	Not-provided, likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs587777061	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777062	C>T	Pathogenic	Stop gained, coding sequence variant
rs747712363	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762650572	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs764053964	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797045317	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs868044680	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs869312696	C>A	Pathogenic	Coding sequence variant, stop gained
rs886039650	G>T	Pathogenic	Coding sequence variant, stop gained
rs886041652	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041753	->A	Pathogenic	Coding sequence variant, frameshift variant
rs886041785	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041846	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043487	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519005	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519498	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057524831	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1060499602	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1064793765	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064796742	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796972	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307640	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1179499890	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1204482456	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555741188	->GAAA	Pathogenic	Frameshift variant, coding sequence variant
rs1555742010	ACAACAG>TCACAT	Pathogenic	Frameshift variant, coding sequence variant
rs1555742087	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555742148	->T	Pathogenic	Stop gained, coding sequence variant
rs1555742167	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555742212	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555742232	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555742333	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555742500	GACA>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs1555743003	G>A	Pathogenic	Splice donor variant
rs1555743005	T>A	Likely-pathogenic	Splice donor variant
rs1555743845	->AACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555743954	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555744039	GTCTTGATTCCCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744086	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555744175	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555744178	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744217	->AACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555744282	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs1555744396	->ACCAG	Pathogenic	Frameshift variant, coding sequence variant
rs1555744989	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555745616	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568359734	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568359816	T>A	Pathogenic	Coding sequence variant, stop gained
rs1568359887	G>T	Pathogenic	Coding sequence variant, stop gained
rs1568360291	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568365439	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1568369744	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1599364162	AA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1599562180	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563269	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563619	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599563995	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599564118	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599565958	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1599566942	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599570895	->CTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1599571406	GT>-	Pathogenic	Coding sequence variant, stop gained
rs1599571722	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1599572151	->CTTG	Pathogenic	Coding sequence variant, frameshift variant
rs1599572831	AT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1599572974	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599573656	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599573759	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599574018	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599575096	TCTA>-	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024184	hsa-miR-221-3p	Sequencing	20371350
MIRT029464	hsa-miR-26b-5p	Microarray	19088304
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624649	hsa-miR-708-3p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT460736	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT460735	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT460734	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460733	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460732	hsa-miR-4779	PAR-CLIP	23592263
MIRT460731	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460730	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT460729	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT460728	hsa-miR-4533	PAR-CLIP	23592263
MIRT460727	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT460726	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT460725	hsa-miR-4271	PAR-CLIP	23592263
MIRT460724	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT460723	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT624648	hsa-miR-7844-5p	HITS-CLIP	23824327
MIRT624649	hsa-miR-708-3p	HITS-CLIP	23824327
MIRT624647	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT624645	hsa-miR-6715b-3p	HITS-CLIP	23824327
MIRT624646	hsa-miR-1297	HITS-CLIP	23824327
MIRT624644	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT029464	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT624643	hsa-miR-4465	HITS-CLIP	23824327
MIRT624642	hsa-miR-498	HITS-CLIP	23824327
MIRT624641	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT624640	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT624639	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT624638	hsa-miR-1305	HITS-CLIP	23824327
MIRT460736	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT460735	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT460734	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460733	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT460732	hsa-miR-4779	PAR-CLIP	23592263
MIRT460731	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT460730	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT460729	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT460728	hsa-miR-4533	PAR-CLIP	23592263
MIRT460727	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT460726	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT460725	hsa-miR-4271	PAR-CLIP	23592263
MIRT460724	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT460723	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT1921524	hsa-miR-1182	CLIP-seq
MIRT1921525	hsa-miR-193a-5p	CLIP-seq
MIRT1921526	hsa-miR-607	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0035517	Component	PR-DUB complex	IBA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051055	Process	Negative regulation of lipid biosynthetic process	IDA	25450400

MIM	HGNC	e!Ensembl
615115	29357	ENSG00000141431

Protein

UniProt ID

Q9C0F0

Protein name

Putative Polycomb group protein ASXL3 (Additional sex combs-like protein 3)

Protein function

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05066	HARE-HTH	10 → 81	HB1, ASXL, restriction endonuclease HTH domain	Family
PF13919	ASXH	235 → 360	Asx homology domain	Domain
PF13922	PHD_3	2183 → 2246	PHD domain of transcriptional enhancer, Asx	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor. {ECO:0000269|PubMed:15138607}.

Sequence

MKDKRKKKDRTWAEAARLALEKHPNSPMTAKQILEVIQKEGLKETSGTSPLACLNAMLHT
NTRIGDGTFFKIPGKSGLYALKKEESSCPADGTLDLVCESELDGTDMAEANAHGEENGVC
SKQVTDEASSTRDSSLTNTAVQSKLVSSFQQHTKKALKQALRQQQKRRNGVSMMVNKTVP
RVVLTPLKVSDEQSDSPSGSESKNGEADSSDKEMKHGQKSPTGKQTSQHLKRLKKSGLGH
LKWTKAEDIDIETPGSILVNTNLRALINKHTFASLPQHFQQYLLLLLPEVDRQMGSDGIL
RLSTSALNNEFFAYAAQGWKQRLAEGEFTPEMQLRIRQEIEKEKKTEPWKEKFFERFYGE
KLGMSREESVKLTTGPNNAGAQSSSSCGTSGLPVSAQTALAEQQPKSMKSPASPEPGFCA
TLCPMVEIPPKDIMAELESEDILIPEESVIQEEIAEEVETSICECQDENHKTIPEFSEEA
ESLTNSHEEPQIAPPEDNLESCVMMNDVLETLPHIEVKIEGKSESPQEEMTVVIDQLEVC
DSLIPSTSSMTHVSDTEHKESETAVETSTPKIKTGSSSLEGQFPNEGIAIDMELQSDPEE
QLSENACISETSFSSESPEGACTSLPSPGGETQSTSEESCTPASLETTFCSEVSSTENTD
KYNQRNSTDENFHASLMSEISPISTSPEISEASLMSNLPLTSEASPVSNLPLTSETSPMS
DLPLTSETSSVSSMLLTSETTFVSSLPLPSETSPISNSSINERMAHQQRKSPSVSEEPLS
PQKDESSATAKPLGENLTSQQKNLSNTPEPIIMSSSSIAPEAFPSEDLHNKTLSQQTCKS
HVDTEKPYPASIPELASTEMIKVKNHSVLQRTEKKVLPSPLELSVFSEGTDNKGNELPSA
KLQDKQYISSVDKAPFSEGSRNKTHKQGSTQSRLETSHTSKSSEPSKSPDGIRNESRDSE
ISKRKTAEQHSFGICKEKRARIEDDQSTRNISSSSPPEKEQPPREEPRVPPLKIQLSKIG
PPFIIKSQPVSKPESRASTSTSVSGGRNTGARTLADIKARAQQARAQREAAAAAAVAAAA
SIVSGAMGSPGEGGKTRTLAHIKEQTKAKLFAKHQARAHLFQTSKETRLPPPLSSKEGPP
NLEVSSTPETKMEGSTGVIIVNPNCRSPSNKSAHLRETTTVLQQSLNPSKLPETATDLSV
HSSDENIPVSHLSEKIVSSTSSENSSVPMLFNKNSVPVSVCSTAISGAIKEHPFVSSVDK
SSVLMSVDSANTTISACNISMLKTIQGTDTPCIAIIPKCIESTPISATTEGSSISSSMDD
KQLLISSSSASNLVSTQYTSVPTPSIGNNLPNLSTSSVLIPPMGINNRFPSEKIAIPGSE
EQATVSMGTTVRAALSCSDSVAVTDSLVAHPTVAMFTGNMLTINSYDSPPKLSAESLDKN
SGPRNRADNSGKPQQPPGGFAPAAINRSIPCKVIVDHSTTLTSSLSLTVSVESSEASLDL
QGRPVRTEASVQPVACPQVSVISRPEPVANEGIDHSSTFIAASAAKQDSKTLPATCTSLR
ELPLVPDKLNEPTAPSHNFAEQARGPAPFKSEADTTCSNQYNPSNRICWNDDGMRSTGQP
LVTHSGSSKQKEYLEQSCPKAIKTEHANYLNVSELHPRNLVTNVALPVKSELHEADKGFR
MDTEDFPGPELPPPAAEGASSVQQTQNMKASTSSPMEEAISLATDALKRVPGAGSSGCRL
SSVEANNPLVTQLLQGNLPLEKVLPQPRLGAKLEINRLPLPLQTTSVGKTAPERNVEIPP
SSPNPDGKGYLAGTLAPLQMRKRENHPKKRVARTVGEHTQVKCEPGKLLVEPDVKGVPCV
ISSGISQLGHSQPFKQEWLNKHSMQNRIVHSPEVKQQKRLLPSCSFQQNLFHVDKNGGFH
TDAGTSHRQQFYQMPVAARGPIPTAALLQASSKTPVGCNAFAFNRHLEQKGLGEVSLSSA
PHQLRLANMLSPNMPMKEGDEVGGTAHTMPNKALVHPPPPPPPPPPPPLALPPPPPPPPP
LPPPLPNAEVPSDQKQPPVTMETTKRLSWPQSTGICSNIKSEPLSFEEGLSSSCELGMKQ
VSYDQNEMKEQLKAFALKSADFSSYLLSEPQKPFTQLAAQKMQVQQQQQLCGNYPTIHFG
STSFKRAASAIEKSIGILGSGSNPATGLSGQNAQMPVQNFADSSNADELELKCSCRLKAM
IVCKGCGAFCHDDCIGPSKLCVACLVVR

Sequence length

2248

Interactions

View interactions

	KEGG
	Polycomb repressive complex

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
Mental retardation	intellectual disability	rs1555744282	N/A

Show/Hide Unknown Diseases (7)

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.
Diabetes	Mild obesity-related type 2 diabetes	N/A	N/A	GWAS
Heart Failure	Heart failure	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	34646089
Adenocarcinoma of Lung	Associate	31558162
Alcohol Related Disorders	Associate	36177608
Arthrogryposis	Associate	33820833
Autistic Disorder	Associate	35172777
Bainbridge Ropers syndrome	Associate	26647312, 27693232, 27901041, 29305346, 31638014, 32517662, 33751773, 34086428, 34436830, 34886823, 35172777, 35276034, 36177608
Bohring syndrome	Associate	27901041, 29305346
Bone Diseases Developmental	Associate	33820833
Cleft Palate	Associate	27901041
Congenital Abnormalities	Associate	27693232
Craniofacial Abnormalities	Associate	24044690
Developmental Disabilities	Associate	24044690, 29305346, 34086428, 34886823, 35172777
Failure to Thrive	Associate	26647312
Feeding and Eating Disorders	Associate	26647312, 27901041, 35172777
Growth Disorders	Associate	24044690
Hypersensitivity Delayed	Associate	27901041, 34436830, 36177608
Intellectual Disability	Associate	26647312, 27901041, 36177608
Language Development Disorders	Associate	26647312
Leukemia Myeloid Acute	Associate	27462774
Melanoma	Associate	25393105
Mental Disorders	Associate	36177608
Mental Retardation X Linked Syndromic Christianson Type	Associate	34653234
Microcephaly	Associate	24044690
Muscle Hypotonia	Associate	26647312, 27901041, 36177608
Neoplasms	Associate	25393105
Obsessive Compulsive Disorder	Associate	35020433
Parathyroid Neoplasms	Associate	36611251
Postural Orthostatic Tachycardia Syndrome	Associate	35172777
Prostatic Neoplasms	Stimulate	34646089
Prostatic Neoplasms Castration Resistant	Associate	32091413
Seizures	Associate	35172777
Sexual Dysfunction Physiological	Associate	36177608
Small Cell Lung Carcinoma	Associate	32669118, 35194152
Speech Disorders	Associate	27901041
Syndrome	Associate	32517662

ASXL3 (ASXL transcriptional regulator 3)