RBBP6 (RB binding protein 6, ubiquitin ligase) - Rat Genome Database

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Gene: RBBP6 (RB binding protein 6, ubiquitin ligase) Homo sapiens
Analyze
Symbol: RBBP6
Name: RB binding protein 6, ubiquitin ligase
RGD ID: 1323690
HGNC Page HGNC:9889
Description: Enables protein kinase binding activity and ubiquitin protein ligase activity. Involved in DNA damage response; regulation of DNA replication; and ubiquitin-dependent protein catabolic process. Located in centrosome and nuclear speck. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686P0638; DKFZp761B2423; E3 ubiquitin-protein ligase RBBP6; MY038; P2P-R; p53-associated cellular protein of testis; PACT; proliferation potential-related protein; RB-binding Q-protein 1; RBQ-1; retinoblastoma binding protein 6; retinoblastoma-binding protein 6; retinoblastoma-binding protein 6, isoform 3; retinoblastoma-binding Q protein 1; RING-type E3 ubiquitin transferase RBBP6; SNAMA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RBBP6P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381624,539,566 - 24,572,863 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1624,537,693 - 24,572,863 (+)EnsemblGRCh38hg38GRCh38
GRCh371624,550,887 - 24,584,184 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361624,458,409 - 24,491,685 (+)NCBINCBI36Build 36hg18NCBI36
Build 341624,458,408 - 24,468,222NCBI
Celera1623,328,786 - 23,362,062 (+)NCBICelera
Cytogenetic Map16p12.1NCBI
HuRef1622,641,252 - 22,674,528 (+)NCBIHuRef
CHM1_11625,564,378 - 25,597,648 (+)NCBICHM1_1
T2T-CHM13v2.01624,816,493 - 24,849,790 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
aflatoxin B1  (EXP,ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
clobetasol  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
daunorubicin  (EXP)
deoxynivalenol  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
ketamine  (ISO)
leflunomide  (EXP)
Mecamylamine  (EXP)
MeIQx  (EXP)
menadione  (EXP)
methylmercury chloride  (EXP)
miconazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nicotine  (EXP)
nitric oxide  (ISO)
ochratoxin A  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
progesterone  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
succimer  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
torcetrapib  (EXP)
tributylstannane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tubocurarine  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8595913   PMID:9010216   PMID:12064457   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15302935   PMID:15475430   PMID:15489334   PMID:15617101   PMID:16051665   PMID:16396680  
PMID:16964243   PMID:17081983   PMID:17207965   PMID:17470788   PMID:18624398   PMID:18654987   PMID:18851979   PMID:19028597   PMID:19454010   PMID:20171287   PMID:20184719   PMID:20873783  
PMID:20936779   PMID:21145461   PMID:21676486   PMID:21706016   PMID:21873635   PMID:22130672   PMID:22139301   PMID:22163034   PMID:22678362   PMID:22681889   PMID:22779921   PMID:22939629  
PMID:23251661   PMID:23602568   PMID:24124579   PMID:24163370   PMID:24703106   PMID:24726359   PMID:24999758   PMID:25127414   PMID:25319826   PMID:25505242   PMID:25910411   PMID:26167880  
PMID:26186194   PMID:26288249   PMID:26344197   PMID:26496610   PMID:26574608   PMID:26678539   PMID:26905308   PMID:27107012   PMID:27609421   PMID:27634302   PMID:27684187   PMID:28431233  
PMID:28514442   PMID:28700943   PMID:29180619   PMID:29298432   PMID:29369481   PMID:29395067   PMID:29501043   PMID:29507755   PMID:29509190   PMID:29802200   PMID:30196744   PMID:30209976  
PMID:30217970   PMID:30463901   PMID:30550789   PMID:30585729   PMID:30804502   PMID:30827507   PMID:30890647   PMID:31076518   PMID:31180492   PMID:31343991   PMID:31527615   PMID:31586073  
PMID:31685801   PMID:31753913   PMID:31871319   PMID:32416067   PMID:32460013   PMID:32513696   PMID:32662898   PMID:32744500   PMID:32908313   PMID:33001583   PMID:33155192   PMID:33536335  
PMID:33545068   PMID:33683013   PMID:33742100   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34185411   PMID:34244482   PMID:34373451   PMID:35013218   PMID:35044719  
PMID:35140242   PMID:35177536   PMID:35271311   PMID:35439318   PMID:35474067   PMID:35563538   PMID:35819319   PMID:35850772   PMID:35944360   PMID:35987950   PMID:36114006   PMID:36215168  
PMID:36373674   PMID:36526897   PMID:36528617   PMID:36574265   PMID:36700049   PMID:36964488   PMID:37080995   PMID:37322627   PMID:37506885   PMID:37689310   PMID:37827155   PMID:38113892  
PMID:38270169   PMID:38280479  


Genomics

Comparative Map Data
RBBP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381624,539,566 - 24,572,863 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1624,537,693 - 24,572,863 (+)EnsemblGRCh38hg38GRCh38
GRCh371624,550,887 - 24,584,184 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361624,458,409 - 24,491,685 (+)NCBINCBI36Build 36hg18NCBI36
Build 341624,458,408 - 24,468,222NCBI
Celera1623,328,786 - 23,362,062 (+)NCBICelera
Cytogenetic Map16p12.1NCBI
HuRef1622,641,252 - 22,674,528 (+)NCBIHuRef
CHM1_11625,564,378 - 25,597,648 (+)NCBICHM1_1
T2T-CHM13v2.01624,816,493 - 24,849,790 (+)NCBIT2T-CHM13v2.0
Rbbp6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397122,568,980 - 122,601,780 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7122,564,909 - 122,601,780 (+)EnsemblGRCm39 Ensembl
GRCm387122,969,637 - 123,002,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7122,965,686 - 123,002,557 (+)EnsemblGRCm38mm10GRCm38
MGSCv377130,114,078 - 130,146,086 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367122,761,967 - 122,793,601 (+)NCBIMGSCv36mm8
Celera7122,855,678 - 122,887,683 (+)NCBICelera
Cytogenetic Map7F2NCBI
cM Map767.42NCBI
Rbbp6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81186,934,563 - 186,966,852 (+)NCBIGRCr8
mRatBN7.21177,503,988 - 177,537,397 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1177,503,313 - 177,535,678 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01192,933,264 - 192,965,160 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1192,933,540 - 192,965,158 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01199,992,652 - 200,025,090 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41181,818,248 - 181,849,942 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11181,957,758 - 181,989,842 (+)NCBI
Celera1175,194,259 - 175,225,960 (+)NCBICelera
Cytogenetic Map1q36NCBI
Rbbp6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554933,003,783 - 3,034,223 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554933,003,522 - 3,034,638 (+)NCBIChiLan1.0ChiLan1.0
RBBP6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21825,952,539 - 25,985,866 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11630,473,928 - 30,506,629 (+)NCBINHGRI_mPanPan1
PanPan1.11624,786,170 - 24,819,408 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1624,787,210 - 24,818,989 (+)Ensemblpanpan1.1panPan2
RBBP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1621,480,445 - 21,512,436 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl621,480,864 - 21,511,335 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha623,042,301 - 23,074,299 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0621,617,635 - 21,649,908 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl621,617,637 - 21,648,912 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1621,423,144 - 21,454,272 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0621,325,783 - 21,357,763 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0621,719,900 - 21,751,898 (-)NCBIUU_Cfam_GSD_1.0
Rbbp6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344120,868,214 - 120,899,167 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365018,966,068 - 8,998,000 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365018,966,074 - 8,997,027 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBBP6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.2322,536,840 - 22,571,131 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RBBP6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1522,271,209 - 22,303,922 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl522,272,267 - 22,303,503 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660687,454,436 - 7,487,151 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbbp6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247829,558,768 - 9,594,961 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247829,559,333 - 9,592,648 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBBP6
89 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1		 pathogenic
NM_006910.4(RBBP6):c.4202G>A (p.Gly1401Glu) single nucleotide variant Malignant melanoma [RCV000071055] Chr16:24571268 [GRCh38]
Chr16:24582589 [GRCh37]
Chr16:24490090 [NCBI36]
Chr16:16p12.1		 not provided
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_006910.5(RBBP6):c.5324A>G (p.Asp1775Gly) single nucleotide variant not specified [RCV004303514] Chr16:24572390 [GRCh38]
Chr16:24583711 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_006910.5(RBBP6):c.4544C>T (p.Pro1515Leu) single nucleotide variant not specified [RCV004304383] Chr16:24571610 [GRCh38]
Chr16:24582931 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2476C>T (p.Arg826Cys) single nucleotide variant not specified [RCV004286352] Chr16:24569166 [GRCh38]
Chr16:24580487 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1552C>A (p.Pro518Thr) single nucleotide variant not specified [RCV004326392] Chr16:24564828 [GRCh38]
Chr16:24576149 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_006910.5(RBBP6):c.2646C>G (p.Asp882Glu) single nucleotide variant not specified [RCV004321356] Chr16:24569336 [GRCh38]
Chr16:24580657 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_006910.5(RBBP6):c.2833A>G (p.Ser945Gly) single nucleotide variant not specified [RCV004322824] Chr16:24569523 [GRCh38]
Chr16:24580844 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2-12.1(chr16:23610466-24743657)x1 copy number loss not provided [RCV000683797] Chr16:23610466..24743657 [GRCh37]
Chr16:16p12.2-12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_006910.5(RBBP6):c.4478A>T (p.Glu1493Val) single nucleotide variant not specified [RCV004290817] Chr16:24571544 [GRCh38]
Chr16:24582865 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4423A>C (p.Thr1475Pro) single nucleotide variant not specified [RCV004321725] Chr16:24571489 [GRCh38]
Chr16:24582810 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_006910.5(RBBP6):c.5115T>A (p.Ser1705Arg) single nucleotide variant not specified [RCV004308747] Chr16:24572181 [GRCh38]
Chr16:24583502 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.283G>A (p.Ala95Thr) single nucleotide variant not specified [RCV004326885] Chr16:24548961 [GRCh38]
Chr16:24560282 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_006910.5(RBBP6):c.1521-6A>G single nucleotide variant not provided [RCV001530559] Chr16:24564791 [GRCh38]
Chr16:24576112 [GRCh37]
Chr16:16p12.1		 benign
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2		 not provided
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_006910.5(RBBP6):c.3754A>G (p.Arg1252Gly) single nucleotide variant not specified [RCV004328887] Chr16:24570444 [GRCh38]
Chr16:24581765 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_006910.5(RBBP6):c.5119_5121del (p.Ser1707del) deletion not specified [RCV001818007] Chr16:24572183..24572185 [GRCh38]
Chr16:24583504..24583506 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2636G>A (p.Arg879His) single nucleotide variant not specified [RCV001819271] Chr16:24569326 [GRCh38]
Chr16:24580647 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.2722C>A (p.His908Asn) single nucleotide variant not specified [RCV001819454] Chr16:24569412 [GRCh38]
Chr16:24580733 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.2665C>A (p.His889Asn) single nucleotide variant not specified [RCV001819605] Chr16:24569355 [GRCh38]
Chr16:24580676 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2355T>C (p.Asn785=) single nucleotide variant not specified [RCV001820531] Chr16:24569045 [GRCh38]
Chr16:24580366 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.2862A>G (p.Leu954=) single nucleotide variant not specified [RCV001820536] Chr16:24569552 [GRCh38]
Chr16:24580873 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.3101T>C (p.Ile1034Thr) single nucleotide variant not specified [RCV001820538] Chr16:24569791 [GRCh38]
Chr16:24581112 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3405G>C (p.Glu1135Asp) single nucleotide variant not specified [RCV001820541] Chr16:24570095 [GRCh38]
Chr16:24581416 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4485A>G (p.Thr1495=) single nucleotide variant not provided [RCV003407825]|not specified [RCV001820552] Chr16:24571551 [GRCh38]
Chr16:24582872 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.4547G>A (p.Arg1516Lys) single nucleotide variant not specified [RCV001820555] Chr16:24571613 [GRCh38]
Chr16:24582934 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1783G>A (p.Ala595Thr) single nucleotide variant not specified [RCV001822243] Chr16:24567336 [GRCh38]
Chr16:24578657 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3998T>G (p.Val1333Gly) single nucleotide variant not specified [RCV001822531] Chr16:24571064 [GRCh38]
Chr16:24582385 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4246C>G (p.Pro1416Ala) single nucleotide variant not specified [RCV001822777] Chr16:24571312 [GRCh38]
Chr16:24582633 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3545G>A (p.Arg1182His) single nucleotide variant not provided [RCV003407824]|not specified [RCV001820547] Chr16:24570235 [GRCh38]
Chr16:24581556 [GRCh37]
Chr16:16p12.1		 benign|likely benign
NM_006910.5(RBBP6):c.437+10T>C single nucleotide variant not specified [RCV001820701] Chr16:24555713 [GRCh38]
Chr16:24567034 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.4713G>T (p.Lys1571Asn) single nucleotide variant not specified [RCV003151632] Chr16:24571779 [GRCh38]
Chr16:24583100 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1495G>A (p.Gly499Ser) single nucleotide variant not specified [RCV003151630] Chr16:24563639 [GRCh38]
Chr16:24574960 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.504A>C (p.Gly168=) single nucleotide variant not provided [RCV003420584]|not specified [RCV003151624] Chr16:24555887 [GRCh38]
Chr16:24567208 [GRCh37]
Chr16:16p12.1		 benign|likely benign
NM_006910.5(RBBP6):c.999A>G (p.Arg333=) single nucleotide variant not specified [RCV003151628] Chr16:24561871 [GRCh38]
Chr16:24573192 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.2144A>C (p.Tyr715Ser) single nucleotide variant not specified [RCV004307178] Chr16:24568834 [GRCh38]
Chr16:24580155 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1211C>T (p.Ser404Phe) single nucleotide variant not specified [RCV003151629] Chr16:24562083 [GRCh38]
Chr16:24573404 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.438-8_438-7delinsTT indel not specified [RCV003151631] Chr16:24555813..24555814 [GRCh38]
Chr16:24567134..24567135 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.5092_5103del (p.Val1698_Ser1701del) deletion not specified [RCV003151633] Chr16:24572148..24572159 [GRCh38]
Chr16:24583469..24583480 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4668A>G (p.Glu1556=) single nucleotide variant not specified [RCV003151627] Chr16:24571734 [GRCh38]
Chr16:24583055 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.1150A>G (p.Ile384Val) single nucleotide variant not specified [RCV004288141] Chr16:24562022 [GRCh38]
Chr16:24573343 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3334A>G (p.Lys1112Glu) single nucleotide variant not specified [RCV004292146] Chr16:24570024 [GRCh38]
Chr16:24581345 [GRCh37]
Chr16:16p12.1		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_006910.5(RBBP6):c.348+2TA[9] microsatellite not specified [RCV003151625] Chr16:24553558..24553559 [GRCh38]
Chr16:24564879..24564880 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.3993A>T (p.Glu1331Asp) single nucleotide variant not specified [RCV004186085] Chr16:24571059 [GRCh38]
Chr16:24582380 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1489C>T (p.Arg497Cys) single nucleotide variant not specified [RCV004213048] Chr16:24563633 [GRCh38]
Chr16:24574954 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2414C>T (p.Pro805Leu) single nucleotide variant not specified [RCV004136286] Chr16:24569104 [GRCh38]
Chr16:24580425 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3608G>A (p.Ser1203Asn) single nucleotide variant not specified [RCV004215235] Chr16:24570298 [GRCh38]
Chr16:24581619 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4601C>A (p.Ser1534Tyr) single nucleotide variant not specified [RCV004103692] Chr16:24571667 [GRCh38]
Chr16:24582988 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4311A>G (p.Gln1437=) single nucleotide variant RBBP6-related condition [RCV003966283]|not specified [RCV003151626] Chr16:24571377 [GRCh38]
Chr16:24582698 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.433A>G (p.Ile145Val) single nucleotide variant not specified [RCV004131110] Chr16:24555699 [GRCh38]
Chr16:24567020 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4085A>G (p.Tyr1362Cys) single nucleotide variant not specified [RCV004169738] Chr16:24571151 [GRCh38]
Chr16:24582472 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4430A>G (p.Tyr1477Cys) single nucleotide variant not specified [RCV004117585] Chr16:24571496 [GRCh38]
Chr16:24582817 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1174T>G (p.Ser392Ala) single nucleotide variant not specified [RCV004160791] Chr16:24562046 [GRCh38]
Chr16:24573367 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1037C>T (p.Pro346Leu) single nucleotide variant not specified [RCV004178303] Chr16:24561909 [GRCh38]
Chr16:24573230 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1173G>C (p.Gln391His) single nucleotide variant not specified [RCV004160790] Chr16:24562045 [GRCh38]
Chr16:24573366 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4418A>G (p.Lys1473Arg) single nucleotide variant not specified [RCV004224724] Chr16:24571484 [GRCh38]
Chr16:24582805 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2141C>G (p.Ser714Cys) single nucleotide variant not specified [RCV004123211] Chr16:24568831 [GRCh38]
Chr16:24580152 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4508G>A (p.Arg1503Gln) single nucleotide variant not specified [RCV004243619] Chr16:24571574 [GRCh38]
Chr16:24582895 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1490G>A (p.Arg497His) single nucleotide variant not specified [RCV004231808] Chr16:24563634 [GRCh38]
Chr16:24574955 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3544C>T (p.Arg1182Cys) single nucleotide variant not specified [RCV004184198] Chr16:24570234 [GRCh38]
Chr16:24581555 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1087T>C (p.Ser363Pro) single nucleotide variant not specified [RCV004204840] Chr16:24561959 [GRCh38]
Chr16:24573280 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2566A>G (p.Asn856Asp) single nucleotide variant not specified [RCV004157846] Chr16:24569256 [GRCh38]
Chr16:24580577 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1109T>C (p.Met370Thr) single nucleotide variant not specified [RCV004224850] Chr16:24561981 [GRCh38]
Chr16:24573302 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3913G>A (p.Ala1305Thr) single nucleotide variant not specified [RCV004135277] Chr16:24570979 [GRCh38]
Chr16:24582300 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2855A>G (p.Glu952Gly) single nucleotide variant not specified [RCV004155274] Chr16:24569545 [GRCh38]
Chr16:24580866 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2287T>C (p.Tyr763His) single nucleotide variant not specified [RCV004154743] Chr16:24568977 [GRCh38]
Chr16:24580298 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1222C>T (p.Pro408Ser) single nucleotide variant not specified [RCV004110363] Chr16:24562094 [GRCh38]
Chr16:24573415 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3592G>A (p.Asp1198Asn) single nucleotide variant not specified [RCV004185256] Chr16:24570282 [GRCh38]
Chr16:24581603 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1144C>T (p.Pro382Ser) single nucleotide variant not specified [RCV004083449] Chr16:24562016 [GRCh38]
Chr16:24573337 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3466G>A (p.Val1156Ile) single nucleotide variant not specified [RCV004087488] Chr16:24570156 [GRCh38]
Chr16:24581477 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2531G>C (p.Gly844Ala) single nucleotide variant not specified [RCV004175442] Chr16:24569221 [GRCh38]
Chr16:24580542 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2726A>G (p.Asn909Ser) single nucleotide variant not specified [RCV004223242] Chr16:24569416 [GRCh38]
Chr16:24580737 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.182A>G (p.Asn61Ser) single nucleotide variant not specified [RCV004256643] Chr16:24546178 [GRCh38]
Chr16:24557499 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2225G>T (p.Arg742Leu) single nucleotide variant not specified [RCV004269960] Chr16:24568915 [GRCh38]
Chr16:24580236 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1288C>T (p.Arg430Trp) single nucleotide variant not specified [RCV004266058] Chr16:24562160 [GRCh38]
Chr16:24573481 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.879G>C (p.Glu293Asp) single nucleotide variant not specified [RCV004269924] Chr16:24561643 [GRCh38]
Chr16:24572964 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.3686A>C (p.Lys1229Thr) single nucleotide variant not specified [RCV004264781] Chr16:24570376 [GRCh38]
Chr16:24581697 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2635C>T (p.Arg879Cys) single nucleotide variant not specified [RCV004254771] Chr16:24569325 [GRCh38]
Chr16:24580646 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1597A>C (p.Asn533His) single nucleotide variant not specified [RCV004259541] Chr16:24567150 [GRCh38]
Chr16:24578471 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1631G>A (p.Arg544Lys) single nucleotide variant not specified [RCV004278097] Chr16:24567184 [GRCh38]
Chr16:24578505 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3278C>G (p.Ser1093Cys) single nucleotide variant not specified [RCV004268715] Chr16:24569968 [GRCh38]
Chr16:24581289 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4829G>A (p.Ser1610Asn) single nucleotide variant not specified [RCV004311484] Chr16:24571895 [GRCh38]
Chr16:24583216 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.3085T>A (p.Ser1029Thr) single nucleotide variant not specified [RCV004302780] Chr16:24569775 [GRCh38]
Chr16:24581096 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4316A>G (p.Asn1439Ser) single nucleotide variant not specified [RCV004338979] Chr16:24571382 [GRCh38]
Chr16:24582703 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.968A>G (p.Lys323Arg) single nucleotide variant not specified [RCV004345595] Chr16:24561840 [GRCh38]
Chr16:24573161 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1196C>T (p.Ser399Phe) single nucleotide variant not specified [RCV004343566] Chr16:24562068 [GRCh38]
Chr16:24573389 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2968C>T (p.Pro990Ser) single nucleotide variant not specified [RCV004363638] Chr16:24569658 [GRCh38]
Chr16:24580979 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2894G>C (p.Gly965Ala) single nucleotide variant not specified [RCV004348234] Chr16:24569584 [GRCh38]
Chr16:24580905 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2162G>A (p.Arg721His) single nucleotide variant not specified [RCV004357445] Chr16:24568852 [GRCh38]
Chr16:24580173 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4079T>A (p.Val1360Asp) single nucleotide variant not specified [RCV004359309] Chr16:24571145 [GRCh38]
Chr16:24582466 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4945A>C (p.Asn1649His) single nucleotide variant not specified [RCV004357200] Chr16:24572011 [GRCh38]
Chr16:24583332 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4731G>A (p.Arg1577=) single nucleotide variant not provided [RCV003411294] Chr16:24571797 [GRCh38]
Chr16:24583118 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.5064C>T (p.Ser1688=) single nucleotide variant not provided [RCV003426638] Chr16:24572130 [GRCh38]
Chr16:24583451 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.2209G>A (p.Gly737Ser) single nucleotide variant not specified [RCV004440990] Chr16:24568899 [GRCh38]
Chr16:24580220 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3145C>A (p.Arg1049Ser) single nucleotide variant not specified [RCV004440994] Chr16:24569835 [GRCh38]
Chr16:24581156 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.3659G>T (p.Gly1220Val) single nucleotide variant not specified [RCV004440996] Chr16:24570349 [GRCh38]
Chr16:24581670 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4075A>G (p.Ile1359Val) single nucleotide variant not specified [RCV004440998] Chr16:24571141 [GRCh38]
Chr16:24582462 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.335C>T (p.Ala112Val) single nucleotide variant not specified [RCV004440995] Chr16:24553544 [GRCh38]
Chr16:24564865 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4657C>T (p.Arg1553Trp) single nucleotide variant not specified [RCV004440999] Chr16:24571723 [GRCh38]
Chr16:24583044 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.5186A>G (p.Lys1729Arg) single nucleotide variant not specified [RCV004441001] Chr16:24572252 [GRCh38]
Chr16:24583573 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.712T>C (p.Phe238Leu) single nucleotide variant not specified [RCV004441002] Chr16:24559542 [GRCh38]
Chr16:24570863 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2407C>T (p.Pro803Ser) single nucleotide variant not specified [RCV004440992] Chr16:24569097 [GRCh38]
Chr16:24580418 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4004C>T (p.Ser1335Phe) single nucleotide variant not specified [RCV004440997] Chr16:24571070 [GRCh38]
Chr16:24582391 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1365T>G (p.Ile455Met) single nucleotide variant not specified [RCV004440986] Chr16:24563274 [GRCh38]
Chr16:24574595 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.1711A>G (p.Thr571Ala) single nucleotide variant not specified [RCV004440987] Chr16:24567264 [GRCh38]
Chr16:24578585 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2150G>C (p.Arg717Pro) single nucleotide variant not specified [RCV004440989] Chr16:24568840 [GRCh38]
Chr16:24580161 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4490G>A (p.Arg1497Gln) single nucleotide variant RBBP6-related condition [RCV003924562] Chr16:24571556 [GRCh38]
Chr16:24582877 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.1753C>T (p.Pro585Ser) single nucleotide variant not specified [RCV004440988] Chr16:24567306 [GRCh38]
Chr16:24578627 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.2404G>T (p.Val802Phe) single nucleotide variant not specified [RCV004440991] Chr16:24569094 [GRCh38]
Chr16:24580415 [GRCh37]
Chr16:16p12.1		 uncertain significance
NM_006910.5(RBBP6):c.4460G>A (p.Arg1487His) single nucleotide variant RBBP6-related condition [RCV003947158] Chr16:24571526 [GRCh38]
Chr16:24582847 [GRCh37]
Chr16:16p12.1		 likely benign
NM_006910.5(RBBP6):c.4267A>G (p.Thr1423Ala) single nucleotide variant not specified [RCV004351685] Chr16:24571333 [GRCh38]
Chr16:24582654 [GRCh37]
Chr16:16p12.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1425
Count of miRNA genes:764
Interacting mature miRNAs:893
Transcripts:ENST00000319715, ENST00000348022, ENST00000381039, ENST00000452655, ENST00000562430, ENST00000562683, ENST00000564314, ENST00000564726, ENST00000567686, ENST00000568015, ENST00000568316, ENST00000570185
Prediction methods:Miranda, Rnahybrid, Targetscan
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
RH71297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,581,256 - 24,581,420UniSTSGRCh37
Build 361624,488,757 - 24,488,921RGDNCBI36
Celera1623,359,134 - 23,359,298RGD
Cytogenetic Map16p12.2UniSTS
HuRef1622,671,600 - 22,671,764UniSTS
GeneMap99-GB4 RH Map16196.97UniSTS
SHGC-61139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,582,597 - 24,582,718UniSTSGRCh37
Build 361624,490,098 - 24,490,219RGDNCBI36
Celera1623,360,475 - 23,360,596RGD
Cytogenetic Map16p12.2UniSTS
HuRef1622,672,941 - 22,673,062UniSTS
GeneMap99-GB4 RH Map16196.91UniSTS
NCBI RH Map16229.3UniSTS
SHGC-82501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,557,175 - 24,557,460UniSTSGRCh37
Build 361624,464,676 - 24,464,961RGDNCBI36
Celera1623,335,053 - 23,335,338RGD
Cytogenetic Map16p12.2UniSTS
HuRef1622,647,519 - 22,647,804UniSTS
TNG Radiation Hybrid Map1614122.0UniSTS
RH69978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,573,725 - 24,573,876UniSTSGRCh37
Build 361624,481,226 - 24,481,377RGDNCBI36
Celera1623,351,603 - 23,351,754RGD
Cytogenetic Map16p12.2UniSTS
HuRef1622,664,069 - 22,664,220UniSTS
GeneMap99-GB4 RH Map16200.43UniSTS
NCBI RH Map16231.3UniSTS
SHGC-61177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,551,698 - 24,551,836UniSTSGRCh37
Build 361624,459,199 - 24,459,337RGDNCBI36
Celera1623,329,576 - 23,329,714RGD
Cytogenetic Map16p12.2UniSTS
HuRef1622,642,042 - 22,642,180UniSTS
GeneMap99-GB4 RH Map16196.91UniSTS
NCBI RH Map16229.3UniSTS
RH48310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371624,551,402 - 24,551,525UniSTSGRCh37
Build 361624,458,903 - 24,459,026RGDNCBI36
Celera1623,329,280 - 23,329,403RGD
Cytogenetic Map16p12.2UniSTS
HuRef1622,641,746 - 22,641,869UniSTS
GeneMap99-GB4 RH Map16196.97UniSTS


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 2311 1502 1457 366 1200 216 4058 1490 2363 271 1422 1592 164 1193 2501 4
Low 128 1484 269 258 746 249 298 707 1371 148 38 21 11 1 11 287 2 2
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB112074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB112075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF063596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF352051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY072922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC118667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF727303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI489954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM314442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB529116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD638608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X85133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000319715   ⟹   ENSP00000317872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,539,566 - 24,572,863 (+)Ensembl
RefSeq Acc Id: ENST00000348022   ⟹   ENSP00000316291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,540,583 - 24,572,863 (+)Ensembl
RefSeq Acc Id: ENST00000381039   ⟹   ENSP00000370427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,540,520 - 24,572,863 (+)Ensembl
RefSeq Acc Id: ENST00000452655   ⟹   ENSP00000390537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,540,496 - 24,549,401 (+)Ensembl
RefSeq Acc Id: ENST00000562430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,554,477 - 24,572,860 (+)Ensembl
RefSeq Acc Id: ENST00000562683   ⟹   ENSP00000481477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,555,830 - 24,559,805 (+)Ensembl
RefSeq Acc Id: ENST00000564314   ⟹   ENSP00000456750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,537,693 - 24,570,113 (+)Ensembl
RefSeq Acc Id: ENST00000564726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,553,256 - 24,556,333 (+)Ensembl
RefSeq Acc Id: ENST00000567686   ⟹   ENSP00000457716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,537,712 - 24,561,665 (+)Ensembl
RefSeq Acc Id: ENST00000568015   ⟹   ENSP00000460821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,539,556 - 24,555,859 (+)Ensembl
RefSeq Acc Id: ENST00000568316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,539,585 - 24,540,284 (+)Ensembl
RefSeq Acc Id: ENST00000570185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,563,280 - 24,567,370 (+)Ensembl
RefSeq Acc Id: ENST00000613729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,552,993 - 24,554,938 (+)Ensembl
RefSeq Acc Id: ENST00000646282   ⟹   ENSP00000496720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1624,540,574 - 24,572,231 (+)Ensembl
RefSeq Acc Id: NM_006910   ⟹   NP_008841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,539,566 - 24,572,863 (+)NCBI
GRCh371624,550,866 - 24,584,184 (+)NCBI
Build 361624,458,409 - 24,491,685 (+)NCBI Archive
HuRef1622,641,252 - 22,674,528 (+)ENTREZGENE
CHM1_11625,564,378 - 25,597,648 (+)NCBI
T2T-CHM13v2.01624,816,493 - 24,849,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018703   ⟹   NP_061173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,539,566 - 24,572,863 (+)NCBI
GRCh371624,550,866 - 24,584,184 (+)NCBI
Build 361624,458,409 - 24,491,685 (+)NCBI Archive
HuRef1622,641,252 - 22,674,528 (+)ENTREZGENE
CHM1_11625,564,378 - 25,597,648 (+)NCBI
T2T-CHM13v2.01624,816,493 - 24,849,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032626   ⟹   NP_116015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,539,566 - 24,549,401 (+)NCBI
GRCh371624,550,866 - 24,584,184 (+)NCBI
Build 361624,458,409 - 24,468,223 (+)NCBI Archive
HuRef1622,641,252 - 22,674,528 (+)ENTREZGENE
CHM1_11625,564,378 - 25,574,188 (+)NCBI
T2T-CHM13v2.01624,816,493 - 24,826,328 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_008841 (Get FASTA)   NCBI Sequence Viewer  
  NP_061173 (Get FASTA)   NCBI Sequence Viewer  
  NP_116015 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF71048 (Get FASTA)   NCBI Sequence Viewer  
  AAG43155 (Get FASTA)   NCBI Sequence Viewer  
  AAH15318 (Get FASTA)   NCBI Sequence Viewer  
  AAH29352 (Get FASTA)   NCBI Sequence Viewer  
  AAH63524 (Get FASTA)   NCBI Sequence Viewer  
  AAH73938 (Get FASTA)   NCBI Sequence Viewer  
  AAI01140 (Get FASTA)   NCBI Sequence Viewer  
  AAI01141 (Get FASTA)   NCBI Sequence Viewer  
  AAI01142 (Get FASTA)   NCBI Sequence Viewer  
  AAI01143 (Get FASTA)   NCBI Sequence Viewer  
  AAI14354 (Get FASTA)   NCBI Sequence Viewer  
  AAI14355 (Get FASTA)   NCBI Sequence Viewer  
  AAI18668 (Get FASTA)   NCBI Sequence Viewer  
  AAI39831 (Get FASTA)   NCBI Sequence Viewer  
  AAL05625 (Get FASTA)   NCBI Sequence Viewer  
  AAL68925 (Get FASTA)   NCBI Sequence Viewer  
  BAB15600 (Get FASTA)   NCBI Sequence Viewer  
  BAC77636 (Get FASTA)   NCBI Sequence Viewer  
  BAC77637 (Get FASTA)   NCBI Sequence Viewer  
  BAG64162 (Get FASTA)   NCBI Sequence Viewer  
  CAA59445 (Get FASTA)   NCBI Sequence Viewer  
  CAB94869 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43380 (Get FASTA)   NCBI Sequence Viewer  
  EAW55789 (Get FASTA)   NCBI Sequence Viewer  
  EAW55790 (Get FASTA)   NCBI Sequence Viewer  
  EAW55791 (Get FASTA)   NCBI Sequence Viewer  
  EAW55792 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000316291
  ENSP00000316291.4
  ENSP00000317872
  ENSP00000317872.4
  ENSP00000370427.3
  ENSP00000390537
  ENSP00000390537.2
  ENSP00000456750.1
  ENSP00000457716.1
  ENSP00000460821.1
  ENSP00000481477.1
  ENSP00000496720.1
GenBank Protein Q7Z6E9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_008841   ⟸   NM_006910
- Peptide Label: isoform 1
- UniProtKB: Q9H5M5 (UniProtKB/Swiss-Prot),   Q9H3I8 (UniProtKB/Swiss-Prot),   Q96PH3 (UniProtKB/Swiss-Prot),   Q8N0V2 (UniProtKB/Swiss-Prot),   Q7Z6E8 (UniProtKB/Swiss-Prot),   Q6YNC9 (UniProtKB/Swiss-Prot),   Q6P4C2 (UniProtKB/Swiss-Prot),   Q6DKH4 (UniProtKB/Swiss-Prot),   Q15290 (UniProtKB/Swiss-Prot),   Q147T5 (UniProtKB/Swiss-Prot),   Q9NPX4 (UniProtKB/Swiss-Prot),   Q7Z6E9 (UniProtKB/Swiss-Prot),   A0A2R8Y880 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_061173   ⟸   NM_018703
- Peptide Label: isoform 2
- UniProtKB: A0A2R8Y880 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116015   ⟸   NM_032626
- Peptide Label: isoform 3
- UniProtKB: Q7Z6E9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000316291   ⟸   ENST00000348022
RefSeq Acc Id: ENSP00000390537   ⟸   ENST00000452655
RefSeq Acc Id: ENSP00000481477   ⟸   ENST00000562683
RefSeq Acc Id: ENSP00000456750   ⟸   ENST00000564314
RefSeq Acc Id: ENSP00000370427   ⟸   ENST00000381039
RefSeq Acc Id: ENSP00000457716   ⟸   ENST00000567686
RefSeq Acc Id: ENSP00000460821   ⟸   ENST00000568015
RefSeq Acc Id: ENSP00000496720   ⟸   ENST00000646282
RefSeq Acc Id: ENSP00000317872   ⟸   ENST00000319715
Protein Domains
CCHC-type   DWNN   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z6E9-F1-model_v2 AlphaFold Q7Z6E9 1-1792 view protein structure

Promoters
RGD ID:6811019
Promoter ID:HG_ACW:29901
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:RBBP6.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361624,456,326 - 24,456,826 (+)MPROMDB
RGD ID:6793409
Promoter ID:HG_KWN:23327
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:NM_032626,   OTTHUMT00000214067,   OTTHUMT00000214068,   UC010BXR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361624,458,111 - 24,459,607 (+)MPROMDB
RGD ID:6793412
Promoter ID:HG_KWN:23328
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002DMK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361624,474,191 - 24,474,691 (+)MPROMDB
RGD ID:7231631
Promoter ID:EPDNEW_H21561
Type:initiation region
Name:RBBP6_3
Description:RB binding protein 6, ubiquitin ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21562  EPDNEW_H21563  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,537,758 - 24,537,818EPDNEW
RGD ID:7231633
Promoter ID:EPDNEW_H21562
Type:initiation region
Name:RBBP6_1
Description:RB binding protein 6, ubiquitin ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21561  EPDNEW_H21563  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,539,584 - 24,539,644EPDNEW
RGD ID:7231635
Promoter ID:EPDNEW_H21563
Type:initiation region
Name:RBBP6_2
Description:RB binding protein 6, ubiquitin ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21561  EPDNEW_H21562  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381624,540,487 - 24,540,547EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9889 AgrOrtholog
COSMIC RBBP6 COSMIC
Ensembl Genes ENSG00000122257 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000319715 ENTREZGENE
  ENST00000319715.10 UniProtKB/Swiss-Prot
  ENST00000348022 ENTREZGENE
  ENST00000348022.6 UniProtKB/Swiss-Prot
  ENST00000381039.7 UniProtKB/Swiss-Prot
  ENST00000452655 ENTREZGENE
  ENST00000452655.6 UniProtKB/Swiss-Prot
  ENST00000562683.2 UniProtKB/TrEMBL
  ENST00000564314.5 UniProtKB/TrEMBL
  ENST00000567686.5 UniProtKB/TrEMBL
  ENST00000568015.5 UniProtKB/TrEMBL
  ENST00000646282.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc finger, CCHC-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122257 GTEx
HGNC ID HGNC:9889 ENTREZGENE
Human Proteome Map RBBP6 Human Proteome Map
InterPro DWNN_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubox_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn_knuckle_CX2CX3GHX4C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CCHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CCHC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5930 UniProtKB/Swiss-Prot
NCBI Gene 5930 ENTREZGENE
OMIM 600938 OMIM
PANTHER CELL DIVISION CYCLE AND APOPTOSIS REGULATOR PROTEIN 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15439 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DWNN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C3HC4_2 UniProtKB/TrEMBL
  zf-CCHC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34253 PharmGKB
PROSITE DWNN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_CCHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DWNN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2HC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57756 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WY32_HUMAN UniProtKB/TrEMBL
  A0A2R8Y880 ENTREZGENE, UniProtKB/TrEMBL
  H3BSK8_HUMAN UniProtKB/TrEMBL
  H3BUN0_HUMAN UniProtKB/TrEMBL
  I3L3Y2_HUMAN UniProtKB/TrEMBL
  L8E7X2_HUMAN UniProtKB/TrEMBL
  Q147T5 ENTREZGENE
  Q15290 ENTREZGENE
  Q6DKH4 ENTREZGENE
  Q6P4C2 ENTREZGENE
  Q6YNC9 ENTREZGENE
  Q7Z6E8 ENTREZGENE
  Q7Z6E9 ENTREZGENE
  Q8N0V2 ENTREZGENE
  Q96PH3 ENTREZGENE
  Q9H3I8 ENTREZGENE
  Q9H5M5 ENTREZGENE
  Q9NPX4 ENTREZGENE
  RBBP6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q147T5 UniProtKB/Swiss-Prot
  Q15290 UniProtKB/Swiss-Prot
  Q6DKH4 UniProtKB/Swiss-Prot
  Q6P4C2 UniProtKB/Swiss-Prot
  Q6YNC9 UniProtKB/Swiss-Prot
  Q7Z6E8 UniProtKB/Swiss-Prot
  Q8N0V2 UniProtKB/Swiss-Prot
  Q96PH3 UniProtKB/Swiss-Prot
  Q9H3I8 UniProtKB/Swiss-Prot
  Q9H5M5 UniProtKB/Swiss-Prot
  Q9NPX4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 RBBP6  RB binding protein 6, ubiquitin ligase  RBBP6  retinoblastoma binding protein 6  Symbol and/or name change 5135510 APPROVED