CUL4B (cullin 4B) - Rat Genome Database

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Gene: CUL4B (cullin 4B) Homo sapiens
Analyze
Symbol: CUL4B
Name: cullin 4B
RGD ID: 1342683
HGNC Page HGNC
Description: Contributes to damaged DNA binding activity. Involved in UV-damage excision repair; cellular protein metabolic process; and ribosome biogenesis. Localizes to Cul4B-RING E3 ubiquitin ligase complex; cytosol; and nucleoplasm. Implicated in syndromic X-linked intellectual disability Cabezas type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CUL-4B; cullin-4B; DKFZp686F1470; KIAA0695; MRXHF2; MRXS15; MRXSC; SFM2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX120,505,920 - 120,604,074 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,523,858 - 120,575,794 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,524,612 - 120,575,794 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,524,609 - 120,575,794 (-)EnsemblGRCh38hg38GRCh38
GRCh38X120,523,858 - 120,575,532 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X119,657,713 - 119,709,387 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,542,472 - 119,593,712 (-)NCBINCBI36hg18NCBI36
Build 34X119,442,379 - 119,491,531NCBI
CeleraX120,122,944 - 120,174,184 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX109,109,003 - 109,160,669 (-)NCBIHuRef
CHM1_1X119,570,086 - 119,621,321 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormality of earlobe  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the pinna  (IAGP)
Absent speech  (IAGP)
Acanthosis nigricans  (IAGP)
Aggressive behavior  (IAGP)
Biparietal narrowing  (IAGP)
Blepharophimosis  (IAGP)
Brachydactyly  (IAGP)
Broad-based gait  (IAGP)
Bulbous nose  (IAGP)
Cachexia  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Cortical dysplasia  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Down-sloping shoulders  (IAGP)
Downslanted palpebral fissures  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Gait ataxia  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Hyperhidrosis  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Immunodeficiency  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Kyphosis  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Mood swings  (IAGP)
Motor delay  (IAGP)
Obesity  (IAGP)
Open bite  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Polymicrogyria  (IAGP)
Prominent nose  (IAGP)
Relative macrocephaly  (IAGP)
Sandal gap  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Simplified gyral pattern  (IAGP)
Small hand  (IAGP)
Striae distensae  (IAGP)
Synophrys  (IAGP)
Thick lower lip vermilion  (IAGP)
Toe syndactyly  (IAGP)
Tremor  (IAGP)
Ventriculomegaly  (IAGP)
Wide mouth  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8681378   PMID:9734811   PMID:10092517   PMID:10230407   PMID:10597293   PMID:10978356   PMID:12168954   PMID:12477932   PMID:12481031   PMID:12504026   PMID:12609982   PMID:14578910  
PMID:15302935   PMID:15489334   PMID:15772651   PMID:16036220   PMID:16322693   PMID:16344560   PMID:16407252   PMID:16503656   PMID:16620772   PMID:16678110   PMID:16861890   PMID:16861906  
PMID:16949367   PMID:16964240   PMID:17041588   PMID:17236139   PMID:17273978   PMID:17392787   PMID:18029348   PMID:18235224   PMID:18593899   PMID:18775313   PMID:18794347   PMID:18826954  
PMID:19056867   PMID:19056892   PMID:19250909   PMID:19295130   PMID:19339032   PMID:19615732   PMID:19617556   PMID:19651607   PMID:19801544   PMID:19818632   PMID:20002452   PMID:20005570  
PMID:20064923   PMID:20360068   PMID:20932471   PMID:20951943   PMID:21145461   PMID:21228219   PMID:21319273   PMID:21352845   PMID:21628527   PMID:21778237   PMID:21795677   PMID:21816345  
PMID:21832049   PMID:21873635   PMID:22032989   PMID:22182342   PMID:22334663   PMID:22466964   PMID:22474075   PMID:22586326   PMID:22863883   PMID:22902626   PMID:22939624   PMID:22939629  
PMID:22952844   PMID:22992378   PMID:23201271   PMID:23238014   PMID:23297343   PMID:23314748   PMID:23348097   PMID:23357576   PMID:23479742   PMID:23555860   PMID:23649548   PMID:23824909  
PMID:24269809   PMID:24292625   PMID:24292684   PMID:24452595   PMID:24703702   PMID:24719410   PMID:24797263   PMID:24811749   PMID:24898194   PMID:24962565   PMID:25036637   PMID:25189186  
PMID:25189618   PMID:25385192   PMID:25430888   PMID:25435324   PMID:25464270   PMID:25499913   PMID:25542213   PMID:25795299   PMID:25807049   PMID:25883150   PMID:25910212   PMID:25921289  
PMID:25963833   PMID:25970626   PMID:26021757   PMID:26186194   PMID:26344197   PMID:26350204   PMID:26496610   PMID:26549023   PMID:26617747   PMID:26638075   PMID:26711351   PMID:26906416  
PMID:27107014   PMID:27113764   PMID:27114453   PMID:27142104   PMID:27158335   PMID:27173435   PMID:27294876   PMID:27580824   PMID:27634302   PMID:27656838   PMID:27899484   PMID:27974468  
PMID:28164432   PMID:28225217   PMID:28302793   PMID:28378594   PMID:28416635   PMID:28437394   PMID:28446751   PMID:28514442   PMID:28581483   PMID:28685847   PMID:28718761   PMID:28786561  
PMID:28816568   PMID:28886238   PMID:28974581   PMID:29089422   PMID:29106389   PMID:29229926   PMID:29274277   PMID:29378950   PMID:29499938   PMID:29531219   PMID:29540532   PMID:29691401  
PMID:29738775   PMID:29846670   PMID:29911972   PMID:30018425   PMID:30154076   PMID:30166453   PMID:30229816   PMID:30349055   PMID:30442713   PMID:30483755   PMID:30585266   PMID:30585729  
PMID:30587576   PMID:30609075   PMID:30612524   PMID:30737378   PMID:30779731   PMID:30883036   PMID:30898011   PMID:30923324   PMID:30945288   PMID:30945295   PMID:30992047   PMID:31091453  
PMID:31111526   PMID:31155351   PMID:31296559   PMID:31329620   PMID:31407591   PMID:31448526   PMID:31452512   PMID:31462741   PMID:31570706   PMID:31617661   PMID:31729179   PMID:31753913  
PMID:31825840   PMID:31911655   PMID:32140073   PMID:32416067   PMID:32466489   PMID:32572027  


Genomics

Comparative Map Data
CUL4B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX120,505,920 - 120,604,074 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,523,858 - 120,575,794 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,524,612 - 120,575,794 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,524,609 - 120,575,794 (-)EnsemblGRCh38hg38GRCh38
GRCh38X120,523,858 - 120,575,532 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X119,657,713 - 119,709,387 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,542,472 - 119,593,712 (-)NCBINCBI36hg18NCBI36
Build 34X119,442,379 - 119,491,531NCBI
CeleraX120,122,944 - 120,174,184 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX109,109,003 - 109,160,669 (-)NCBIHuRef
CHM1_1X119,570,086 - 119,621,321 (-)NCBICHM1_1
Cul4b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X37,620,493 - 37,665,073 (-)NCBIGRCm39mm39
GRCm39 EnsemblX37,622,151 - 37,665,073 (-)Ensembl
GRCm38X38,531,616 - 38,576,196 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX38,533,274 - 38,576,196 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X35,884,793 - 35,929,373 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X34,777,901 - 34,820,823 (-)NCBImm8
CeleraX26,177,720 - 26,222,300 (-)NCBICelera
Cytogenetic MapXA3.3NCBI
Cul4b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X117,287,481 - 117,326,688 (-)NCBI
Rnor_6.0 EnsemblX124,832,628 - 124,870,329 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X124,831,391 - 124,870,329 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X124,915,933 - 124,954,871 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X6,800,506 - 6,838,023 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX116,505,114 - 116,543,077 (-)NCBICelera
Cytogenetic MapXq35NCBI
Cul4b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555721,308,491 - 1,365,147 (+)NCBIChiLan1.0ChiLan1.0
CUL4B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X119,985,109 - 120,034,715 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,985,116 - 120,034,702 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X109,798,279 - 109,870,469 (-)NCBIMhudiblu_PPA_v0panPan3
CUL4B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X92,489,981 - 92,538,199 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX92,491,114 - 92,537,672 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX78,521,518 - 78,569,760 (-)NCBI
ROS_Cfam_1.0X94,236,531 - 94,284,539 (-)NCBI
UMICH_Zoey_3.1X91,685,541 - 91,733,782 (-)NCBI
UNSW_CanFamBas_1.0X93,448,317 - 93,496,329 (-)NCBI
UU_Cfam_GSD_1.0X93,223,172 - 93,271,175 (-)NCBI
Cul4b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X91,451,497 - 91,509,969 (-)NCBI
SpeTri2.0NW_0049364799,490,717 - 9,535,998 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CUL4B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX98,668,945 - 98,730,602 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X98,668,945 - 98,730,582 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X112,668,459 - 112,716,028 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CUL4B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606533,233,605 - 33,271,128 (-)NCBI
Cul4b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624931431,835 - 568,609 (-)NCBI

Position Markers
DXS1212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,486,738 - 122,486,969UniSTSGRCh37
Build 36X122,314,419 - 122,314,650RGDNCBI36
CeleraX122,872,678 - 122,872,909RGD
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq23UniSTS
HuRefX111,872,322 - 111,872,553UniSTS
Marshfield Genetic MapX75.79UniSTS
Marshfield Genetic MapX75.79RGD
Genethon Genetic MapX143.0UniSTS
deCODE Assembly MapX123.88UniSTS
GeneMap99-GB4 RH MapX299.8UniSTS
Whitehead-RH MapX277.6UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX608.7UniSTS
DXS7904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,707,192 - 119,707,284UniSTSGRCh37
Build 36X119,591,220 - 119,591,312RGDNCBI36
CeleraX120,171,692 - 120,171,784RGD
Cytogenetic MapXq23UniSTS
HuRefX109,158,177 - 109,158,269UniSTS
TNG Radiation Hybrid MapX25855.0UniSTS
RH103925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,696,003 - 119,696,139UniSTSGRCh37
Build 36X119,580,031 - 119,580,167RGDNCBI36
CeleraX120,160,502 - 120,160,638RGD
Cytogenetic MapXq23UniSTS
HuRefX109,146,991 - 109,147,127UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
SHGC-56967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,695,780 - 119,695,961UniSTSGRCh37
Build 36X119,579,808 - 119,579,989RGDNCBI36
CeleraX120,160,279 - 120,160,460RGD
Cytogenetic MapXq23UniSTS
HuRefX109,146,768 - 109,146,949UniSTS
CUL4B_575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,658,391 - 119,659,101UniSTSGRCh37
Build 36X119,542,419 - 119,543,129RGDNCBI36
CeleraX120,122,891 - 120,123,601RGD
HuRefX109,108,950 - 109,109,660UniSTS
AL021607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,683,006 - 119,683,133UniSTSGRCh37
Build 36X119,567,034 - 119,567,161RGDNCBI36
CeleraX120,147,507 - 120,147,634RGD
Cytogenetic MapXq23UniSTS
HuRefX109,133,658 - 109,133,785UniSTS
DXS7272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,682,825 - 119,682,922UniSTSGRCh37
Build 36X119,566,853 - 119,566,950RGDNCBI36
CeleraX120,147,326 - 120,147,423RGD
Cytogenetic MapXq23UniSTS
HuRefX109,133,477 - 109,133,574UniSTS
AL008931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,693,717 - 119,693,857UniSTSGRCh37
Build 36X119,577,745 - 119,577,885RGDNCBI36
CeleraX120,158,216 - 120,158,356RGD
Cytogenetic MapXq23UniSTS
HuRefX109,144,705 - 109,144,845UniSTS
G16011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,694,346 - 119,694,488UniSTSGRCh37
Build 36X119,578,374 - 119,578,516RGDNCBI36
CeleraX120,158,845 - 120,158,987RGD
Cytogenetic MapXq23UniSTS
HuRefX109,145,334 - 109,145,476UniSTS
DXS425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq23UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1776
Count of miRNA genes:753
Interacting mature miRNAs:851
Transcripts:ENST00000336592, ENST00000371322, ENST00000371323, ENST00000404115, ENST00000467641, ENST00000486604, ENST00000497616
Prediction methods:Microtar, Miranda, Pita, 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.


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
High
Medium 2278 1957 1462 370 1554 220 3543 991 2860 352 1436 1599 163 1190 1996 3
Low 154 1028 261 252 393 244 813 1202 849 66 15 9 8 14 792 1
Below cutoff 3 2 3 18 1 7 4 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF212995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY365125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV573599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB092748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336592   ⟹   ENSP00000338919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,612 - 120,561,453 (-)Ensembl
RefSeq Acc Id: ENST00000371322   ⟹   ENSP00000360373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,523,858 - 120,560,962 (-)Ensembl
RefSeq Acc Id: ENST00000371323   ⟹   ENSP00000360374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,612 - 120,559,915 (-)Ensembl
RefSeq Acc Id: ENST00000404115   ⟹   ENSP00000384109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,526,641 - 120,575,794 (-)Ensembl
RefSeq Acc Id: ENST00000467641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,557,917 - 120,561,302 (-)Ensembl
RefSeq Acc Id: ENST00000486604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,571,176 - 120,575,524 (-)Ensembl
RefSeq Acc Id: ENST00000497616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,532,336 - 120,538,547 (-)Ensembl
RefSeq Acc Id: ENST00000673919   ⟹   ENSP00000500994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,795 - 120,560,776 (-)Ensembl
RefSeq Acc Id: ENST00000674073   ⟹   ENSP00000501262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,823 - 120,534,508 (-)Ensembl
RefSeq Acc Id: ENST00000674137   ⟹   ENSP00000501019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,790 - 120,560,758 (-)Ensembl
RefSeq Acc Id: ENST00000679405   ⟹   ENSP00000504985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,612 - 120,559,978 (-)Ensembl
RefSeq Acc Id: ENST00000679432   ⟹   ENSP00000505343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,526,320 - 120,560,625 (-)Ensembl
RefSeq Acc Id: ENST00000679844   ⟹   ENSP00000505239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,823 - 120,558,039 (-)Ensembl
RefSeq Acc Id: ENST00000679927   ⟹   ENSP00000505603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,523,858 - 120,561,453 (-)Ensembl
RefSeq Acc Id: ENST00000679965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,823 - 120,539,588 (-)Ensembl
RefSeq Acc Id: ENST00000680165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,795 - 120,560,964 (-)Ensembl
RefSeq Acc Id: ENST00000680324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,651 - 120,560,552 (-)Ensembl
RefSeq Acc Id: ENST00000680457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,795 - 120,555,582 (-)Ensembl
RefSeq Acc Id: ENST00000680474   ⟹   ENSP00000505562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,526,410 - 120,558,039 (-)Ensembl
RefSeq Acc Id: ENST00000680577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,620 - 120,561,545 (-)Ensembl
RefSeq Acc Id: ENST00000680673   ⟹   ENSP00000505084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,505,920 - 120,575,829 (-)Ensembl
RefSeq Acc Id: ENST00000680918   ⟹   ENSP00000505955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,523,858 - 120,558,039 (-)Ensembl
RefSeq Acc Id: ENST00000680988   ⟹   ENSP00000504914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,571,571 - 120,575,510 (-)Ensembl
RefSeq Acc Id: ENST00000681080   ⟹   ENSP00000505898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,523,858 - 120,558,039 (-)Ensembl
RefSeq Acc Id: ENST00000681090   ⟹   ENSP00000506288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,823 - 120,560,962 (-)Ensembl
RefSeq Acc Id: ENST00000681148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,602,244 - 120,604,074 (-)Ensembl
RefSeq Acc Id: ENST00000681189   ⟹   ENSP00000505973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,523,858 - 120,558,039 (-)Ensembl
RefSeq Acc Id: ENST00000681206   ⟹   ENSP00000505480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,614 - 120,561,431 (-)Ensembl
RefSeq Acc Id: ENST00000681224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,540,474 - 120,546,672 (-)Ensembl
RefSeq Acc Id: ENST00000681236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,526,573 - 120,531,297 (-)Ensembl
RefSeq Acc Id: ENST00000681253   ⟹   ENSP00000506259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,523,858 - 120,576,825 (-)Ensembl
RefSeq Acc Id: ENST00000681263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,824 - 120,539,402 (-)Ensembl
RefSeq Acc Id: ENST00000681333   ⟹   ENSP00000505739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,612 - 120,561,079 (-)Ensembl
RefSeq Acc Id: ENST00000681487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,526,081 - 120,535,688 (-)Ensembl
RefSeq Acc Id: ENST00000681652   ⟹   ENSP00000505176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,987 - 120,603,930 (-)Ensembl
RefSeq Acc Id: ENST00000681681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,531,940 - 120,535,561 (-)Ensembl
RefSeq Acc Id: ENST00000681706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,824 - 120,536,210 (-)Ensembl
RefSeq Acc Id: ENST00000681864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,526,442 - 120,548,555 (-)Ensembl
RefSeq Acc Id: ENST00000681869   ⟹   ENSP00000505597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,532,336 - 120,558,039 (-)Ensembl
RefSeq Acc Id: ENST00000681908   ⟹   ENSP00000505777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,524,854 - 120,558,039 (-)Ensembl
RefSeq Acc Id: NM_001079872   ⟹   NP_001073341
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,523,858 - 120,560,962 (-)NCBI
GRCh37X119,658,444 - 119,709,684 (-)ENTREZGENE
GRCh37X119,658,444 - 119,709,684 (-)NCBI
Build 36X119,542,472 - 119,578,845 (-)NCBI Archive
HuRefX109,109,003 - 109,160,669 (-)ENTREZGENE
CHM1_1X119,570,086 - 119,606,458 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330624   ⟹   NP_001317553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,523,858 - 120,561,453 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369145   ⟹   NP_001356074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,524,612 - 120,559,898 (-)NCBI
RefSeq Acc Id: NM_003588   ⟹   NP_003579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,523,858 - 120,575,532 (-)NCBI
GRCh37X119,658,444 - 119,709,684 (-)ENTREZGENE
GRCh37X119,658,444 - 119,709,684 (-)NCBI
Build 36X119,542,472 - 119,593,712 (-)NCBI Archive
HuRefX109,109,003 - 109,160,669 (-)ENTREZGENE
CHM1_1X119,570,086 - 119,621,321 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003579   ⟸   NM_003588
- Peptide Label: isoform 1
- UniProtKB: Q13620 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001073341   ⟸   NM_001079872
- Peptide Label: isoform 2
- UniProtKB: Q13620 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317553   ⟸   NM_001330624
- Peptide Label: isoform 3
- UniProtKB: K4DI93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356074   ⟸   NM_001369145
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000500994   ⟸   ENST00000673919
RefSeq Acc Id: ENSP00000501019   ⟸   ENST00000674137
RefSeq Acc Id: ENSP00000501262   ⟸   ENST00000674073
RefSeq Acc Id: ENSP00000360373   ⟸   ENST00000371322
RefSeq Acc Id: ENSP00000360374   ⟸   ENST00000371323
RefSeq Acc Id: ENSP00000338919   ⟸   ENST00000336592
RefSeq Acc Id: ENSP00000384109   ⟸   ENST00000404115
RefSeq Acc Id: ENSP00000505898   ⟸   ENST00000681080
RefSeq Acc Id: ENSP00000505084   ⟸   ENST00000680673
RefSeq Acc Id: ENSP00000506259   ⟸   ENST00000681253
RefSeq Acc Id: ENSP00000504985   ⟸   ENST00000679405
RefSeq Acc Id: ENSP00000506288   ⟸   ENST00000681090
RefSeq Acc Id: ENSP00000505597   ⟸   ENST00000681869
RefSeq Acc Id: ENSP00000505562   ⟸   ENST00000680474
RefSeq Acc Id: ENSP00000505239   ⟸   ENST00000679844
RefSeq Acc Id: ENSP00000505176   ⟸   ENST00000681652
RefSeq Acc Id: ENSP00000505480   ⟸   ENST00000681206
RefSeq Acc Id: ENSP00000505777   ⟸   ENST00000681908
RefSeq Acc Id: ENSP00000505739   ⟸   ENST00000681333
RefSeq Acc Id: ENSP00000504914   ⟸   ENST00000680988
RefSeq Acc Id: ENSP00000505343   ⟸   ENST00000679432
RefSeq Acc Id: ENSP00000505973   ⟸   ENST00000681189
RefSeq Acc Id: ENSP00000505955   ⟸   ENST00000680918
RefSeq Acc Id: ENSP00000505603   ⟸   ENST00000679927
Protein Domains
Cullin   CULLIN_2

Promoters
RGD ID:6808742
Promoter ID:HG_KWN:67925
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:ENST00000371323,   NM_001079872,   OTTHUMT00000058107,   OTTHUMT00000058109
Position:
Human AssemblyChrPosition (strand)Source
Build 36X119,577,891 - 119,579,692 (-)MPROMDB
RGD ID:13627992
Promoter ID:EPDNEW_H29271
Type:initiation region
Name:CUL4B_1
Description:cullin 4B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29273  EPDNEW_H29274  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,560,779 - 120,560,839EPDNEW
RGD ID:13627996
Promoter ID:EPDNEW_H29273
Type:multiple initiation site
Name:CUL4B_2
Description:cullin 4B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29271  EPDNEW_H29274  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,575,532 - 120,575,592EPDNEW
RGD ID:13627998
Promoter ID:EPDNEW_H29274
Type:initiation region
Name:CUL4B_3
Description:cullin 4B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29271  EPDNEW_H29273  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,575,765 - 120,575,825EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003588.3(CUL4B):c.1571A>G (p.Asp524Gly) single nucleotide variant not provided [RCV000521750] ChrX:120540489 [GRCh38]
ChrX:119674344 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000012091] ChrX:120539349 [GRCh38]
ChrX:119673204 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) single nucleotide variant Global developmental delay [RCV000415116]|Syndromic X-linked mental retardation, Cabezas type [RCV000012092] ChrX:120544179 [GRCh38]
ChrX:119678034 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.901-2A>G single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000012093] ChrX:120545519 [GRCh38]
ChrX:119679374 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.117A>T (p.Arg39Ser) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000558589] ChrX:120560576 [GRCh38]
ChrX:119694431 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.831-1G>A single nucleotide variant not provided [RCV000522763] ChrX:120546617 [GRCh38]
ChrX:119680472 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003588.3(CUL4B):c.1160A>G (p.Gln387Arg) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000546039] ChrX:120544181 [GRCh38]
ChrX:119678036 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.1468C>T (p.Leu490Phe) single nucleotide variant Malignant melanoma [RCV000073059] ChrX:120541631 [GRCh38]
ChrX:119675486 [GRCh37]
ChrX:119559514 [NCBI36]
ChrX:Xq24
not provided
NM_001079872.2(CUL4B):c.1257-19dup duplication not specified [RCV000174083] ChrX:120543041..120543042 [GRCh38]
ChrX:119676897 [GRCh37]
ChrX:Xq24
benign
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) single nucleotide variant History of neurodevelopmental disorder [RCV000718729]|Syndromic X-linked mental retardation, Cabezas type [RCV000600141]|not provided [RCV000711343]|not specified [RCV000175044] ChrX:120538205 [GRCh38]
ChrX:119672060 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24(chrX:119660616-119681095)x1 copy number loss Intellectual disability [RCV001293647] ChrX:119660616..119681095 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003588.3(CUL4B):c.1906+1G>T single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000190824] ChrX:120538659 [GRCh38]
ChrX:119672514 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000190825] ChrX:120560544 [GRCh38]
ChrX:119694399 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.1906+1G>A single nucleotide variant Inborn genetic diseases [RCV000190666] ChrX:120538659 [GRCh38]
ChrX:119672514 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq24(chrX:120274633-121397280)x2 copy number gain See cases [RCV000135683] ChrX:120274633..121397280 [GRCh38]
ChrX:119495353..120531134 [GRCh37]
ChrX:119292516..120358815 [NCBI36]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq24(chrX:120526664-120531454)x0 copy number loss See cases [RCV000138858] ChrX:120526664..120531454 [GRCh38]
ChrX:119660519..119665309 [GRCh37]
ChrX:119544547..119549337 [NCBI36]
ChrX:Xq24
likely pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq24(chrX:120255501-120553935)x2 copy number gain See cases [RCV000143266] ChrX:120255501..120553935 [GRCh38]
ChrX:119495353..119687790 [GRCh37]
ChrX:119273384..119571818 [NCBI36]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.1255A>C (p.Lys419Gln) single nucleotide variant not specified [RCV000193656] ChrX:120543782 [GRCh38]
ChrX:119677637 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
NM_001079872.1(CUL4B):c.755_756CA[1] (p.Gln253fs) microsatellite Intellectual disability [RCV000224848] ChrX:120547154..120547155 [GRCh38]
ChrX:119681009..119681010 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.2095C>A (p.Pro699Thr) single nucleotide variant Inborn genetic diseases [RCV000622547] ChrX:120536932 [GRCh38]
ChrX:119670787 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.775C>T (p.Gln259Ter) single nucleotide variant Inborn genetic diseases [RCV000622687] ChrX:120547191 [GRCh38]
ChrX:119681046 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_003588.3(CUL4B):c.2243_2244del (p.Phe748fs) deletion not provided [RCV000256159] ChrX:120534557..120534558 [GRCh38]
ChrX:119668412..119668413 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.652C>A (p.Gln218Lys) single nucleotide variant not provided [RCV000355890] ChrX:120557998 [GRCh38]
ChrX:119691853 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.1359A>T (p.Leu453Phe) single nucleotide variant not provided [RCV000260261] ChrX:120542985 [GRCh38]
ChrX:119676840 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.1007_1011del (p.Ile336fs) deletion Syndromic X-linked mental retardation, Cabezas type [RCV000590902]|not provided [RCV000489216] ChrX:120544607..120544611 [GRCh38]
ChrX:119678462..119678466 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001079872.1(CUL4B):c.951_953TAT[1] (p.Ile319del) microsatellite Syndromic X-linked mental retardation, Cabezas type [RCV000640927] ChrX:120544608..120544610 [GRCh38]
ChrX:119678463..119678465 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.423_431del microsatellite Syndromic X-linked mental retardation, Cabezas type [RCV001045420]|not provided [RCV000599361] ChrX:120560262..120560270 [GRCh38]
ChrX:119694117..119694125 [GRCh37]
ChrX:Xq24
likely pathogenic|uncertain significance
NM_003588.3(CUL4B):c.373C>G (p.Leu125Val) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000640926] ChrX:120560320 [GRCh38]
ChrX:119694175 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.476A>G (p.Asn159Ser) single nucleotide variant not provided [RCV000414616] ChrX:120560217 [GRCh38]
ChrX:119694072 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003588.3(CUL4B):c.685A>G (p.Asn229Asp) single nucleotide variant not specified [RCV000413836] ChrX:120557965 [GRCh38]
ChrX:119691820 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.686A>G (p.Asn229Ser) single nucleotide variant not specified [RCV000414185] ChrX:120557964 [GRCh38]
ChrX:119691819 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.2691_2692del (p.Asp897fs) deletion not provided [RCV000414203] ChrX:120526811..120526812 [GRCh38]
ChrX:119660666..119660667 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.26G>A (p.Gly9Glu) single nucleotide variant not specified [RCV000417477] ChrX:120574592 [GRCh38]
ChrX:119708447 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.-48A>G single nucleotide variant not specified [RCV000431300] ChrX:120575440 [GRCh38]
ChrX:119709295 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.1796-5C>T single nucleotide variant not specified [RCV000421121] ChrX:120538775 [GRCh38]
ChrX:119672630 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.2215-15T>G single nucleotide variant not specified [RCV000421167] ChrX:120534601 [GRCh38]
ChrX:119668456 [GRCh37]
ChrX:Xq24
benign
NM_003588.3(CUL4B):c.726+3A>G single nucleotide variant not specified [RCV000443291] ChrX:120557921 [GRCh38]
ChrX:119691776 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_003588.3(CUL4B):c.*7G>A single nucleotide variant not specified [RCV000426115] ChrX:120526754 [GRCh38]
ChrX:119660609 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.1378+15G>A single nucleotide variant not specified [RCV000430097] ChrX:120542951 [GRCh38]
ChrX:119676806 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.1736_1737del (p.Thr579fs) deletion Syndromic X-linked mental retardation, Cabezas type [RCV000417055] ChrX:120539326..120539327 [GRCh38]
ChrX:119673181..119673182 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003588.3(CUL4B):c.1984T>C (p.Phe662Leu) single nucleotide variant not provided [RCV000484545] ChrX:120538132 [GRCh38]
ChrX:119671987 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.901-10del deletion Syndromic X-linked mental retardation, Cabezas type [RCV001081350]|not provided [RCV000640929]|not specified [RCV000480729] ChrX:120545527 [GRCh38]
ChrX:119679382 [GRCh37]
ChrX:Xq24
benign
NM_001079872.1(CUL4B):c.360_362CTC[5] (p.Ser128del) microsatellite not provided [RCV000640928]|not specified [RCV000477980] ChrX:120560262..120560264 [GRCh38]
ChrX:119694117..119694119 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.1841G>T (p.Arg614Leu) single nucleotide variant not provided [RCV000479459] ChrX:120538725 [GRCh38]
ChrX:119672580 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_001079872.1(CUL4B):c.360_362CTC[7] (p.Ser128dup) microsatellite not specified [RCV000482779] ChrX:120560261..120560262 [GRCh38]
ChrX:119694116..119694117 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.1840C>T (p.Arg614Cys) single nucleotide variant not specified [RCV000501059] ChrX:120538726 [GRCh38]
ChrX:119672581 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.1923C>T (p.Phe641=) single nucleotide variant not specified [RCV000501270] ChrX:120538193 [GRCh38]
ChrX:119672048 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003588.3(CUL4B):c.1913G>T (p.Gly638Val) single nucleotide variant not specified [RCV000504184] ChrX:120538203 [GRCh38]
ChrX:119672058 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.2687G>A (p.Arg896Gln) single nucleotide variant Pettigrew syndrome [RCV000502107] ChrX:120526816 [GRCh38]
ChrX:119660671 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003588.3(CUL4B):c.923dup (p.Leu308fs) duplication not provided [RCV000498573] ChrX:120545494..120545495 [GRCh38]
ChrX:119679349..119679350 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.1363G>A (p.Ala455Thr) single nucleotide variant not specified [RCV000503200] ChrX:120542981 [GRCh38]
ChrX:119676836 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_003588.3(CUL4B):c.67+3G>A single nucleotide variant not provided [RCV000595633] ChrX:120574548 [GRCh38]
ChrX:119708403 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.2320+4T>A single nucleotide variant not specified [RCV000604602] ChrX:120534477 [GRCh38]
ChrX:119668332 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.348G>T (p.Gln116His) single nucleotide variant Intellectual disability [RCV001252215]|Syndromic X-linked mental retardation, Cabezas type [RCV000532515] ChrX:120560345 [GRCh38]
ChrX:119694200 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_003588.3(CUL4B):c.2577G>C (p.Lys859Asn) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000515477] ChrX:120530171 [GRCh38]
ChrX:119664026 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.1219G>T (p.Glu407Ter) single nucleotide variant Inborn genetic diseases [RCV000624631] ChrX:120544122 [GRCh38]
ChrX:119677977 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.1458_1459del (p.Val487fs) deletion Syndromic X-linked mental retardation, Cabezas type [RCV000627044] ChrX:120541640..120541641 [GRCh38]
ChrX:119675495..119675496 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.2688G>A (p.Arg896=) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000640930]|not specified [RCV000615115] ChrX:120526815 [GRCh38]
ChrX:119660670 [GRCh37]
ChrX:Xq24
benign
NM_003588.3(CUL4B):c.1258C>G (p.Arg420Gly) single nucleotide variant Inborn genetic diseases [RCV000624786] ChrX:120543779 [GRCh38]
ChrX:119677634 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003588.3(CUL4B):c.65G>A (p.Gly22Asp) single nucleotide variant not provided [RCV000887497]|not specified [RCV000608920] ChrX:120574553 [GRCh38]
ChrX:119708408 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_003588.3(CUL4B):c.831-12C>T single nucleotide variant not specified [RCV000609172] ChrX:120546628 [GRCh38]
ChrX:119680483 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_003588.3(CUL4B):c.548T>C (p.Val183Ala) single nucleotide variant not provided [RCV000519937] ChrX:120560145 [GRCh38]
ChrX:119694000 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_003588.3(CUL4B):c.1906+1del deletion Inborn genetic diseases [RCV000622403] ChrX:120538659 [GRCh38]
ChrX:119672514 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003588.3(CUL4B):c.1776C>T (p.Ile592=) single nucleotide variant History of neurodevelopmental disorder [RCV000716078]|not provided [RCV000991845] ChrX:120539287 [GRCh38]
ChrX:119673142 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_003588.3(CUL4B):c.13T>G (p.Ser5Ala) single nucleotide variant not provided [RCV000711341] ChrX:120574605 [GRCh38]
ChrX:119708460 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.142A>G (p.Thr48Ala) single nucleotide variant not provided [RCV000711342] ChrX:120560551 [GRCh38]
ChrX:119694406 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001079872.1(CUL4B):c.288_303delinsT (p.Ile97_Leu101del) indel not provided [RCV000711344] ChrX:120560336..120560351 [GRCh38]
ChrX:119694191..119694206 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003588.3(CUL4B):c.1311-5T>C single nucleotide variant not provided [RCV000711340] ChrX:120543038 [GRCh38]
ChrX:119676893 [GRCh37]
ChrX:Xq24
conflicting interpretations of pathogenicity|uncertain significance
NM_003588.3(CUL4B):c.193A>G (p.Ser65Gly) single nucleotide variant not provided [RCV000693451] ChrX:120560500 [GRCh38]
ChrX:119694355 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_003588.3(CUL4B):c.1379-3C>T single nucleotide variant History of neurodevelopmental disorder [RCV000719238] ChrX:120541723 [GRCh38]
ChrX:119675578 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_003588.3(CUL4B):c.1405C>T (p.Arg469Ter) single nucleotide variant not provided [RCV000760621] ChrX:120541694 [GRCh38]
ChrX:119675549 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_003588.3(CUL4B):c.2722C>T (p.Gln908Ter) single nucleotide variant not provided [RCV000782025] ChrX:120526781 [GRCh38]
ChrX:119660636 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_001079872.2(CUL4B):c.1741+4_1741+7del deletion Syndromic X-linked mental retardation, Cabezas type [RCV000770976] ChrX:120539261..120539264 [GRCh38]
ChrX:119673116..119673119 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003588.3(CUL4B):c.1379-292A>G single nucleotide variant not provided [RCV000827854] ChrX:120542012 [GRCh38]
ChrX:119675867 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000893153] ChrX:120537011 [GRCh38]
ChrX:119670866 [GRCh37]
ChrX:Xq24
benign
NM_003588.3(CUL4B):c.610+301G>A single nucleotide variant not provided [RCV000833128] ChrX:120559782 [GRCh38]
ChrX:119693637 [GRCh37]
ChrX:Xq24
benign
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000824885] ChrX:120541649 [GRCh38]
ChrX:119675504 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003588.3(CUL4B):c.1906+69C>T single nucleotide variant not provided [RCV000838612] ChrX:120538591 [GRCh38]
ChrX:119672446 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.830+185G>A single nucleotide variant not provided [RCV000837150] ChrX:120546951 [GRCh38]
ChrX:119680806 [GRCh37]
ChrX:Xq24
benign
NM_003588.3:c.1311-5T>C single nucleotide variant not provided [RCV000840883] ChrX:119676893 [GRCh37]
ChrX:Xq24
likely benign
NM_003588.3(CUL4B):c.726+188A>G single nucleotide variant not provided [RCV000838909] ChrX:120557736 [GRCh38]
ChrX:119691591 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) deletion Syndromic X-linked mental retardation, Cabezas type [RCV000990935] ChrX:120541659 [GRCh38]
ChrX:119675514 [GRCh37]
ChrX:Xq24
pathogenic
NM_003588.3(CUL4B):c.943G>A (p.Val315Ile) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV000800231] ChrX:120545475 [GRCh38]
ChrX:119679330 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001079872.2(CUL4B):c.2536_2539del (p.Leu846fs) deletion not provided [RCV001008097] ChrX:120530155..120530158 [GRCh38]
ChrX:119664010..119664013 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_001079872.2(CUL4B):c.1939dup (p.Tyr647fs) duplication not provided [RCV001009093] ChrX:120537033..120537034 [GRCh38]
ChrX:119670888..119670889 [GRCh37]
ChrX:Xq24
pathogenic
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV001089951] ChrX:120544569 [GRCh38]
ChrX:119678424 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV001232844] ChrX:120560586 [GRCh38]
ChrX:119694441 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV001056755] ChrX:120539271 [GRCh38]
ChrX:119673126 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV001253208] ChrX:120541617 [GRCh38]
ChrX:119675472 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_001079872.2(CUL4B):c.777-2dup duplication not provided [RCV001311401] ChrX:120546617..120546618 [GRCh38]
ChrX:119680472..119680473 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_001079872.2(CUL4B):c.902C>T (p.Ser301Leu) single nucleotide variant Inborn genetic diseases [RCV001267287] ChrX:120545462 [GRCh38]
ChrX:119679317 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001079872.2(CUL4B):c.2139_2140del (p.Leu714fs) microsatellite not provided [RCV001268869] ChrX:120535850..120535851 [GRCh38]
ChrX:119669705..119669706 [GRCh37]
ChrX:Xq24
pathogenic
NM_001079872.2(CUL4B):c.1443+3A>G single nucleotide variant Inborn genetic diseases [RCV001266360] ChrX:120541599 [GRCh38]
ChrX:119675454 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer) indel Syndromic X-linked mental retardation, Cabezas type [RCV001270368] ChrX:120544641..120544643 [GRCh38]
ChrX:119678496..119678498 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV001330206] ChrX:120540418 [GRCh38]
ChrX:119674273 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV001330207] ChrX:120560596 [GRCh38]
ChrX:119694451 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys) single nucleotide variant Syndromic X-linked mental retardation, Cabezas type [RCV001333139] ChrX:120540408 [GRCh38]
ChrX:119674263 [GRCh37]
ChrX:Xq24
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2555 AgrOrtholog
COSMIC CUL4B COSMIC
Ensembl Genes ENSG00000158290 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338919 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000360373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000360374 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384109 UniProtKB/Swiss-Prot
  ENSP00000500994 UniProtKB/TrEMBL
  ENSP00000501019 UniProtKB/TrEMBL
  ENSP00000501262 UniProtKB/TrEMBL
  ENSP00000505084 ENTREZGENE
Ensembl Transcript ENST00000336592 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000371322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371323 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000404115 UniProtKB/Swiss-Prot
  ENST00000673919 UniProtKB/TrEMBL
  ENST00000674073 UniProtKB/TrEMBL
  ENST00000674137 UniProtKB/TrEMBL
  ENST00000680673 ENTREZGENE
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158290 GTEx
HGNC ID HGNC:2555 ENTREZGENE
Human Proteome Map CUL4B Human Proteome Map
InterPro CUL4B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_homology UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_homology_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_neddylation_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8450 UniProtKB/Swiss-Prot
NCBI Gene 8450 ENTREZGENE
OMIM 300304 OMIM
  300354 OMIM
PANTHER PTHR11932:SF66 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cullin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_Nedd8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CUL4B RGD, PharmGKB
PROSITE CULLIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CULLIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CULLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cullin_Nedd8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF74788 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF75632 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A669KAU9_HUMAN UniProtKB/TrEMBL
  A0A669KAX4_HUMAN UniProtKB/TrEMBL
  A0A669KBG9_HUMAN UniProtKB/TrEMBL
  CUL4B_HUMAN UniProtKB/Swiss-Prot
  K4DI93 ENTREZGENE, UniProtKB/TrEMBL
  Q13620 ENTREZGENE
UniProt Secondary B1APK5 UniProtKB/Swiss-Prot
  B3KVX4 UniProtKB/Swiss-Prot
  B7Z5K8 UniProtKB/Swiss-Prot
  Q6PIE4 UniProtKB/Swiss-Prot
  Q6UP07 UniProtKB/Swiss-Prot
  Q7Z673 UniProtKB/Swiss-Prot
  Q9BY37 UniProtKB/Swiss-Prot
  Q9UEB7 UniProtKB/Swiss-Prot
  Q9UED7 UniProtKB/Swiss-Prot