RAB33B (RAB33B, member RAS oncogene family) - Rat Genome Database

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Gene: RAB33B (RAB33B, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB33B
Name: RAB33B, member RAS oncogene family
RGD ID: 1318074
HGNC Page HGNC:16075
Description: Enables GTPase activity. Involved in several processes, including protein localization to Golgi apparatus; regulation of Golgi organization; and regulation of vesicle-mediated transport. Located in Golgi lumen. Implicated in Smith-McCort dysplasia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434G099; MGC138182; ras-related protein Rab-33B; SMC2
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
GRCh384139,438,376 - 139,476,609 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4139,453,232 - 139,476,609 (+)EnsemblGRCh38hg38GRCh38
GRCh374140,375,275 - 140,397,763 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364140,594,411 - 140,616,520 (+)NCBINCBI36Build 36hg18NCBI36
Build 344140,732,565 - 140,754,672NCBI
Celera4137,707,125 - 137,729,232 (+)NCBICelera
Cytogenetic Map4q31.1NCBI
HuRef4136,104,846 - 136,126,566 (+)NCBIHuRef
CHM1_14140,352,225 - 140,374,330 (+)NCBICHM1_1
T2T-CHM13v2.04142,758,027 - 142,796,260 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
endosome  (IBA)
Golgi apparatus  (IBA,IDA,IEA)
Golgi lumen  (IDA,IEA)
Golgi membrane  (IEA,TAS)
membrane  (IEA)
presynapse  (IEA,ISO)

Molecular Function
GTP binding  (IBA,IEA)
GTPase activity  (IBA,IEA,IMP)
nucleotide binding  (IEA)
protein binding  (IPI)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Overview of macroautophagy regulation in mammalian cells. Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9512502   PMID:11230166   PMID:11256614   PMID:11718716   PMID:12477932   PMID:15489334   PMID:15761153   PMID:15815621   PMID:16923123   PMID:18448665   PMID:20163571   PMID:21808068  
PMID:21873635   PMID:22082872   PMID:22652534   PMID:22899725   PMID:23042644   PMID:23091056   PMID:23376485   PMID:25439980   PMID:26186194   PMID:26975471   PMID:27025967   PMID:27374232  
PMID:28127940   PMID:28514442   PMID:28635671   PMID:28656962   PMID:29845934   PMID:30021884   PMID:30619736   PMID:31408960   PMID:32176739   PMID:32296183   PMID:32960676   PMID:33961781  
PMID:34000439   PMID:34284742   PMID:35013556   PMID:35256949   PMID:36610398  


Genomics

Comparative Map Data
RAB33B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384139,438,376 - 139,476,609 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4139,453,232 - 139,476,609 (+)EnsemblGRCh38hg38GRCh38
GRCh374140,375,275 - 140,397,763 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364140,594,411 - 140,616,520 (+)NCBINCBI36Build 36hg18NCBI36
Build 344140,732,565 - 140,754,672NCBI
Celera4137,707,125 - 137,729,232 (+)NCBICelera
Cytogenetic Map4q31.1NCBI
HuRef4136,104,846 - 136,126,566 (+)NCBIHuRef
CHM1_14140,352,225 - 140,374,330 (+)NCBICHM1_1
T2T-CHM13v2.04142,758,027 - 142,796,260 (+)NCBIT2T-CHM13v2.0
Rab33b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39351,391,387 - 51,403,649 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl351,391,341 - 51,403,653 (+)EnsemblGRCm39 Ensembl
GRCm38351,483,966 - 51,496,228 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl351,483,920 - 51,496,232 (+)EnsemblGRCm38mm10GRCm38
MGSCv37351,287,888 - 51,300,150 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36351,571,945 - 51,584,123 (+)NCBIMGSCv36mm8
Celera351,214,925 - 51,227,188 (+)NCBICelera
Cytogenetic Map3CNCBI
cM Map322.49NCBI
Rab33b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82137,678,953 - 137,689,581 (+)NCBIGRCr8
mRatBN7.22135,528,116 - 135,538,719 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2135,528,116 - 135,538,719 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2142,103,991 - 142,114,595 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02140,216,258 - 140,226,862 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02134,848,179 - 134,858,801 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02140,541,619 - 140,552,220 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2140,541,619 - 140,552,220 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02160,016,557 - 160,027,158 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42140,379,230 - 140,389,833 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12140,329,576 - 140,337,535 (+)NCBI
Celera2130,023,627 - 130,034,231 (+)NCBICelera
Cytogenetic Map2q26NCBI
Rab33b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554284,190,061 - 4,211,740 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554284,192,357 - 4,211,740 (-)NCBIChiLan1.0ChiLan1.0
RAB33B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23137,324,790 - 137,348,679 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14137,717,092 - 137,740,960 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04131,815,088 - 131,838,957 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14143,123,480 - 143,147,147 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4143,123,478 - 143,147,147 (+)Ensemblpanpan1.1panPan2
RAB33B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,256,790 - 3,273,198 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,259,119 - 3,274,153 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha193,506,662 - 3,523,267 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0193,329,053 - 3,345,708 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl193,329,066 - 3,345,753 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1193,260,548 - 3,277,194 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0193,622,204 - 3,638,849 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0193,985,927 - 4,002,578 (-)NCBIUU_Cfam_GSD_1.0
Rab33b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530150,730,243 - 50,745,770 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365358,167,551 - 8,183,111 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365358,167,567 - 8,183,105 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB33B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl887,545,116 - 87,570,545 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1887,545,106 - 87,570,545 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2893,091,630 - 93,115,442 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAB33B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1786,422,234 - 86,446,341 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl786,422,612 - 86,446,338 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603765,944,375 - 65,966,854 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rab33b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477719,730,768 - 19,747,292 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477719,730,784 - 19,744,423 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RAB33B
128 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) single nucleotide variant Smith-McCort dysplasia 2 [RCV000043483] Chr4:139454331 [GRCh38]
Chr4:140375485 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys) single nucleotide variant Smith-McCort dysplasia 2 [RCV000043484] Chr4:139472880 [GRCh38]
Chr4:140394034 [GRCh37]
Chr4:4q31.1
pathogenic
GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1 copy number loss See cases [RCV000051056] Chr4:128119872..142431375 [GRCh38]
Chr4:129041027..143352528 [GRCh37]
Chr4:129260477..143571978 [NCBI36]
Chr4:4q28.2-31.21
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1 copy number loss See cases [RCV000054074] Chr4:138370686..139672312 [GRCh38]
Chr4:139291840..140593466 [GRCh37]
Chr4:139511290..140812916 [NCBI36]
Chr4:4q28.3-31.1
uncertain significance
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) single nucleotide variant Smith-McCort dysplasia 2 [RCV000488435] Chr4:139472801 [GRCh38]
Chr4:140393955 [GRCh37]
Chr4:4q31.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter) single nucleotide variant Smith-McCort dysplasia 2 [RCV000488447] Chr4:139454406 [GRCh38]
Chr4:140375560 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter) single nucleotide variant Smith-McCort dysplasia 2 [RCV000488449] Chr4:139472926 [GRCh38]
Chr4:140394080 [GRCh37]
Chr4:4q31.1
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
NM_031296.2(RAB33B):c.-160G>A single nucleotide variant Smith-McCort dysplasia [RCV000261851] Chr4:139454036 [GRCh38]
Chr4:140375190 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.249+10T>C single nucleotide variant Smith-McCort dysplasia 2 [RCV000263939] Chr4:139454454 [GRCh38]
Chr4:140375608 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.-36C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV000267906] Chr4:139454160 [GRCh38]
Chr4:140375314 [GRCh37]
Chr4:4q31.1
benign|likely benign
NM_031296.3(RAB33B):c.*2026G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000279347] Chr4:139475152 [GRCh38]
Chr4:140396306 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.*701G>T single nucleotide variant Smith-McCort dysplasia 2 [RCV000265826] Chr4:139473827 [GRCh38]
Chr4:140394981 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*796_*797del deletion Smith-McCort dysplasia [RCV000271917] Chr4:139473903..139473904 [GRCh38]
Chr4:140395057..140395058 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_031296.3(RAB33B):c.*1403C>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000332942] Chr4:139474529 [GRCh38]
Chr4:140395683 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.*254A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000396749]|not provided [RCV001718742] Chr4:139473380 [GRCh38]
Chr4:140394534 [GRCh37]
Chr4:4q31.1
benign|likely benign
NM_031296.2(RAB33B):c.-205G>C single nucleotide variant Smith-McCort dysplasia [RCV000315111]|not provided [RCV001672637] Chr4:139453991 [GRCh38]
Chr4:140375145 [GRCh37]
Chr4:4q31.1
benign
NM_031296.3(RAB33B):c.*2132T>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000334442] Chr4:139475258 [GRCh38]
Chr4:140396412 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.-48C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV000353419] Chr4:139454148 [GRCh38]
Chr4:140375302 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) single nucleotide variant Smith-McCort dysplasia 2 [RCV000377262]|not provided [RCV002057915] Chr4:139454330 [GRCh38]
Chr4:140375484 [GRCh37]
Chr4:4q31.1
likely benign|uncertain significance
NM_031296.2(RAB33B):c.-167A>C single nucleotide variant Smith-McCort dysplasia [RCV000399338] Chr4:139454029 [GRCh38]
Chr4:140375183 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.-54C>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000317326]|not provided [RCV001636969] Chr4:139454142 [GRCh38]
Chr4:140375296 [GRCh37]
Chr4:4q31.1
benign
NM_031296.3(RAB33B):c.*543C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV000336219] Chr4:139473669 [GRCh38]
Chr4:140394823 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.*590T>C single nucleotide variant Smith-McCort dysplasia 2 [RCV000400758] Chr4:139473716 [GRCh38]
Chr4:140394870 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.*1303C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV000381809] Chr4:139474429 [GRCh38]
Chr4:140395583 [GRCh37]
Chr4:4q31.1
benign
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) single nucleotide variant Smith-McCort dysplasia 2 [RCV000383050]|not provided [RCV001861226] Chr4:139472853 [GRCh38]
Chr4:140394007 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) single nucleotide variant Smith-McCort dysplasia 2 [RCV000288744]|not provided [RCV001850842] Chr4:139472868 [GRCh38]
Chr4:140394022 [GRCh37]
Chr4:4q31.1
likely benign|uncertain significance
NM_031296.3(RAB33B):c.*595G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000305646] Chr4:139473721 [GRCh38]
Chr4:140394875 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.*2651C>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000340957] Chr4:139475777 [GRCh38]
Chr4:140396931 [GRCh37]
Chr4:4q31.1
benign
NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) single nucleotide variant Inborn genetic diseases [RCV002520202]|Smith-McCort dysplasia 2 [RCV000323050]|not provided [RCV002520203] Chr4:139454323 [GRCh38]
Chr4:140375477 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1819A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000292181] Chr4:139474945 [GRCh38]
Chr4:140396099 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) single nucleotide variant Smith-McCort dysplasia 2 [RCV000343754] Chr4:139472989 [GRCh38]
Chr4:140394143 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1751G>T single nucleotide variant Smith-McCort dysplasia 2 [RCV000387519] Chr4:139474877 [GRCh38]
Chr4:140396031 [GRCh37]
Chr4:4q31.1
likely benign|uncertain significance
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) single nucleotide variant Smith-McCort dysplasia 2 [RCV000389054]|not provided [RCV002061241] Chr4:139473113 [GRCh38]
Chr4:140394267 [GRCh37]
Chr4:4q31.1
likely benign|uncertain significance
NM_031296.3(RAB33B):c.*1077G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000326944] Chr4:139474203 [GRCh38]
Chr4:140395357 [GRCh37]
Chr4:4q31.1
benign|likely benign
NM_031296.3(RAB33B):c.*776C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV000366691] Chr4:139473902 [GRCh38]
Chr4:140395056 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.2(RAB33B):c.-164G>A single nucleotide variant Smith-McCort dysplasia [RCV000311411] Chr4:139454032 [GRCh38]
Chr4:140375186 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.336C>T (p.Phe112=) single nucleotide variant Smith-McCort dysplasia 2 [RCV000328510]|not provided [RCV002057916] Chr4:139472772 [GRCh38]
Chr4:140393926 [GRCh37]
Chr4:4q31.1
likely benign|uncertain significance
NM_031296.2(RAB33B):c.-363G>A single nucleotide variant Smith-McCort dysplasia [RCV000394880] Chr4:139453833 [GRCh38]
Chr4:140374987 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*2327G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000395848] Chr4:139475453 [GRCh38]
Chr4:140396607 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1310G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000278022] Chr4:139474436 [GRCh38]
Chr4:140395590 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.48_55del (p.Gly17fs) deletion Smith-McCort dysplasia 2 [RCV000488443] Chr4:139454240..139454247 [GRCh38]
Chr4:140375394..140375401 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.*764G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000302596] Chr4:139473890 [GRCh38]
Chr4:140395044 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.2(RAB33B):c.-342T>C single nucleotide variant Smith-McCort dysplasia [RCV000345423] Chr4:139453854 [GRCh38]
Chr4:140375008 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*2599A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000304838] Chr4:139475725 [GRCh38]
Chr4:140396879 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*219A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000349107] Chr4:139473345 [GRCh38]
Chr4:140394499 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*118T>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000294799] Chr4:139473244 [GRCh38]
Chr4:140394398 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.2(RAB33B):c.-193G>T single nucleotide variant Smith-McCort dysplasia [RCV000369743] Chr4:139454003 [GRCh38]
Chr4:140375157 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1976A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000337773] Chr4:139475102 [GRCh38]
Chr4:140396256 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.2(RAB33B):c.-368C>T single nucleotide variant Smith-McCort dysplasia [RCV000339748] Chr4:139453828 [GRCh38]
Chr4:140374982 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1994T>A single nucleotide variant Smith-McCort dysplasia 2 [RCV000373875] Chr4:139475120 [GRCh38]
Chr4:140396274 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*494A>C single nucleotide variant Smith-McCort dysplasia 2 [RCV000299949] Chr4:139473620 [GRCh38]
Chr4:140394774 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.2(RAB33B):c.-163C>T single nucleotide variant Smith-McCort dysplasia [RCV000356865] Chr4:139454033 [GRCh38]
Chr4:140375187 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.2(RAB33B):c.-255C>T single nucleotide variant Smith-McCort dysplasia [RCV000396529] Chr4:139453941 [GRCh38]
Chr4:140375095 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.2(RAB33B):c.-348G>C single nucleotide variant Smith-McCort dysplasia [RCV000290565] Chr4:139453848 [GRCh38]
Chr4:140375002 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*632A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV000360534] Chr4:139473758 [GRCh38]
Chr4:140394912 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
Single allele deletion not provided [RCV000678021] Chr4:126549693..141313049 [GRCh37]
Chr4:4q28.1-31.1
pathogenic
NM_031296.3(RAB33B):c.186del (p.Glu63fs) deletion Smith-McCort dysplasia 2 [RCV000735865] Chr4:139454380 [GRCh38]
Chr4:140375534 [GRCh37]
Chr4:4q31.1
pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_031296.3(RAB33B):c.600G>A (p.Lys200=) single nucleotide variant Smith-McCort dysplasia 2 [RCV001148163] Chr4:139473036 [GRCh38]
Chr4:140394190 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1455A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001148275] Chr4:139474581 [GRCh38]
Chr4:140395735 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.258A>G (p.Leu86=) single nucleotide variant Smith-McCort dysplasia 2 [RCV001148161]|not provided [RCV000923881] Chr4:139472694 [GRCh38]
Chr4:140393848 [GRCh37]
Chr4:4q31.1
benign
GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1 copy number loss not provided [RCV001005599] Chr4:137901978..141527647 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
NM_031296.3(RAB33B):c.*146T>A single nucleotide variant Smith-McCort dysplasia 2 [RCV001149724] Chr4:139473272 [GRCh38]
Chr4:140394426 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1949A>C single nucleotide variant Smith-McCort dysplasia 2 [RCV001149835] Chr4:139475075 [GRCh38]
Chr4:140396229 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*2722T>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001147357] Chr4:139475848 [GRCh38]
Chr4:140397002 [GRCh37]
Chr4:4q31.1
likely benign
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
NM_031296.3(RAB33B):c.*1235G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV001148273] Chr4:139474361 [GRCh38]
Chr4:140395515 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1322C>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001148274] Chr4:139474448 [GRCh38]
Chr4:140395602 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*161C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV001149725] Chr4:139473287 [GRCh38]
Chr4:140394441 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1 copy number loss not provided [RCV000847693] Chr4:134054911..142601496 [GRCh37]
Chr4:4q28.3-31.21
uncertain significance
GRCh37/hg19 4q31.1(chr4:140333549-140417276)x3 copy number gain not provided [RCV000845888] Chr4:140333549..140417276 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1 copy number loss not provided [RCV001005600] Chr4:139531815..146095109 [GRCh37]
Chr4:4q31.1-31.21
pathogenic
NM_031296.3(RAB33B):c.*2359T>A single nucleotide variant Smith-McCort dysplasia 2 [RCV001145500] Chr4:139475485 [GRCh38]
Chr4:140396639 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*2548T>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001145503] Chr4:139475674 [GRCh38]
Chr4:140396828 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.502G>A (p.Asp168Asn) single nucleotide variant not provided [RCV000998298] Chr4:139472938 [GRCh38]
Chr4:140394092 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.613T>C (p.Leu205=) single nucleotide variant Smith-McCort dysplasia 2 [RCV001149721] Chr4:139473049 [GRCh38]
Chr4:140394203 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*780T>C single nucleotide variant Smith-McCort dysplasia 2 [RCV001147272] Chr4:139473906 [GRCh38]
Chr4:140395060 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*2130G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV001149836] Chr4:139475256 [GRCh38]
Chr4:140396410 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.96C>G (p.Arg32=) single nucleotide variant not provided [RCV000929646] Chr4:139454291 [GRCh38]
Chr4:140375445 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.*2355T>A single nucleotide variant Smith-McCort dysplasia 2 [RCV001145499] Chr4:139475481 [GRCh38]
Chr4:140396635 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*924G>A single nucleotide variant Smith-McCort dysplasia 2 [RCV001147273] Chr4:139474050 [GRCh38]
Chr4:140395204 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) single nucleotide variant Smith-McCort dysplasia 2 [RCV001148162]|not provided [RCV001573007] Chr4:139472966 [GRCh38]
Chr4:140394120 [GRCh37]
Chr4:4q31.1
likely benign|uncertain significance
GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3 copy number gain not provided [RCV001005601] Chr4:140024115..140457430 [GRCh37]
Chr4:4q31.1
likely benign
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
NM_031296.3(RAB33B):c.*2271A>C single nucleotide variant Smith-McCort dysplasia 2 [RCV001149837] Chr4:139475397 [GRCh38]
Chr4:140396551 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*576T>C single nucleotide variant Smith-McCort dysplasia 2 [RCV001145407] Chr4:139473702 [GRCh38]
Chr4:140394856 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.*2522A>C single nucleotide variant Smith-McCort dysplasia 2 [RCV001145502] Chr4:139475648 [GRCh38]
Chr4:140396802 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001149723] Chr4:139473127 [GRCh38]
Chr4:140394281 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*1925A>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001149834] Chr4:139475051 [GRCh38]
Chr4:140396205 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*425T>C single nucleotide variant Smith-McCort dysplasia 2 [RCV001145405] Chr4:139473551 [GRCh38]
Chr4:140394705 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*513C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV001145406] Chr4:139473639 [GRCh38]
Chr4:140394793 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.201G>A (p.Gly67=) single nucleotide variant Smith-McCort dysplasia 2 [RCV001147191] Chr4:139454396 [GRCh38]
Chr4:140375550 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*2391C>T single nucleotide variant Smith-McCort dysplasia 2 [RCV001145501] Chr4:139475517 [GRCh38]
Chr4:140396671 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.678G>A (p.Thr226=) single nucleotide variant Smith-McCort dysplasia 2 [RCV001149722]|not provided [RCV002070815] Chr4:139473114 [GRCh38]
Chr4:140394268 [GRCh37]
Chr4:4q31.1
likely benign|uncertain significance
NM_031296.3(RAB33B):c.*1157T>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001147274] Chr4:139474283 [GRCh38]
Chr4:140395437 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.*2754C>G single nucleotide variant Smith-McCort dysplasia 2 [RCV001147358] Chr4:139475880 [GRCh38]
Chr4:140397034 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) single nucleotide variant Skeletal dysplasia [RCV002287497]|Smith-McCort dysplasia 2 [RCV001352912] Chr4:139472836 [GRCh38]
Chr4:140393990 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.633del (p.Asp212fs) deletion Smith-McCort dysplasia 2 [RCV001335168] Chr4:139473069 [GRCh38]
Chr4:140394223 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.391G>T (p.Glu131Ter) single nucleotide variant not provided [RCV002741704] Chr4:139472827 [GRCh38]
Chr4:140393981 [GRCh37]
Chr4:4q31.1
pathogenic|uncertain significance
NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter) single nucleotide variant Smith-McCort dysplasia 2 [RCV001420350] Chr4:139472689 [GRCh38]
Chr4:140393843 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter) single nucleotide variant Smith-McCort dysplasia 2 [RCV001420351] Chr4:139454339 [GRCh38]
Chr4:140375493 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter) single nucleotide variant Smith-McCort dysplasia 2 [RCV001420352] Chr4:139472716 [GRCh38]
Chr4:140393870 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.186_192del (p.Glu63fs) deletion not provided [RCV001682688] Chr4:139454380..139454386 [GRCh38]
Chr4:140375534..140375540 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.197_199del (p.Ile66_Gly67delinsArg) deletion not provided [RCV001682689] Chr4:139454392..139454394 [GRCh38]
Chr4:140375546..140375548 [GRCh37]
Chr4:4q31.1
pathogenic
NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr) single nucleotide variant Smith-McCort dysplasia 2 [RCV002227903] Chr4:139473126 [GRCh38]
Chr4:140394280 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala) single nucleotide variant Smith-McCort dysplasia 2 [RCV003130576]|not provided [RCV001895863] Chr4:139454388 [GRCh38]
Chr4:140375542 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.462T>A (p.Ser154Arg) single nucleotide variant not provided [RCV002023681] Chr4:139472898 [GRCh38]
Chr4:140394052 [GRCh37]
Chr4:4q31.1
uncertain significance
NC_000004.11:g.(?_140375350)_(140375618_?)dup duplication not provided [RCV001950650] Chr4:140375350..140375618 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930) copy number gain not specified [RCV002053457] Chr4:136035308..144718930 [GRCh37]
Chr4:4q28.3-31.21
uncertain significance
GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1 copy number loss not provided [RCV001833074] Chr4:136529470..141564812 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
NM_031296.3(RAB33B):c.573A>G (p.Ile191Met) single nucleotide variant not provided [RCV002041829] Chr4:139473009 [GRCh38]
Chr4:140394163 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1 copy number loss not provided [RCV001834392] Chr4:138289049..145923298 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21
pathogenic
NM_031296.3(RAB33B):c.455T>A (p.Leu152Ter) single nucleotide variant not provided [RCV001886660] Chr4:139472891 [GRCh38]
Chr4:140394045 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.421A>G (p.Ile141Val) single nucleotide variant not provided [RCV001918781] Chr4:139472857 [GRCh38]
Chr4:140394011 [GRCh37]
Chr4:4q31.1
uncertain significance
NC_000004.11:g.(?_140222932)_(140394280_?)del deletion not provided [RCV001955776] Chr4:140222932..140394280 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.242G>C (p.Arg81Pro) single nucleotide variant not provided [RCV001916868] Chr4:139454437 [GRCh38]
Chr4:140375591 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.127A>C (p.Asn43His) single nucleotide variant not provided [RCV002010888] Chr4:139454322 [GRCh38]
Chr4:140375476 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.337G>A (p.Val113Met) single nucleotide variant not provided [RCV001903955] Chr4:139472773 [GRCh38]
Chr4:140393927 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.395G>T (p.Cys132Phe) single nucleotide variant not provided [RCV002031032] Chr4:139472831 [GRCh38]
Chr4:140393985 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.394T>C (p.Cys132Arg) single nucleotide variant not provided [RCV001998441] Chr4:139472830 [GRCh38]
Chr4:140393984 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.97A>C (p.Ile33Leu) single nucleotide variant not provided [RCV001935916] Chr4:139454292 [GRCh38]
Chr4:140375446 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.178G>T (p.Asp60Tyr) single nucleotide variant not provided [RCV002050565] Chr4:139454373 [GRCh38]
Chr4:140375527 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.145C>G (p.Leu49Val) single nucleotide variant not provided [RCV001952090] Chr4:139454340 [GRCh38]
Chr4:140375494 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.375A>G (p.Leu125=) single nucleotide variant not provided [RCV002187677] Chr4:139472811 [GRCh38]
Chr4:140393965 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.531G>C (p.Thr177=) single nucleotide variant not provided [RCV002188552] Chr4:139472967 [GRCh38]
Chr4:140394121 [GRCh37]
Chr4:4q31.1
benign
NM_031296.3(RAB33B):c.246C>T (p.Ile82=) single nucleotide variant not provided [RCV002173439] Chr4:139454441 [GRCh38]
Chr4:140375595 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.537T>C (p.Ala179=) single nucleotide variant not provided [RCV002079499] Chr4:139472973 [GRCh38]
Chr4:140394127 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.480A>G (p.Thr160=) single nucleotide variant not provided [RCV002104085] Chr4:139472916 [GRCh38]
Chr4:140394070 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.83C>T (p.Pro28Leu) single nucleotide variant not provided [RCV002863394] Chr4:139454278 [GRCh38]
Chr4:140375432 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.218G>T (p.Arg73Leu) single nucleotide variant Inborn genetic diseases [RCV002861116] Chr4:139454413 [GRCh38]
Chr4:140375567 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.78G>C (p.Leu26Phe) single nucleotide variant not provided [RCV002904793] Chr4:139454273 [GRCh38]
Chr4:140375427 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.14T>C (p.Met5Thr) single nucleotide variant Inborn genetic diseases [RCV002729504] Chr4:139454209 [GRCh38]
Chr4:140375363 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.360T>C (p.Ala120=) single nucleotide variant not provided [RCV002858706] Chr4:139472796 [GRCh38]
Chr4:140393950 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.546C>A (p.Pro182=) single nucleotide variant not provided [RCV002614321] Chr4:139472982 [GRCh38]
Chr4:140394136 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.427C>T (p.Arg143Trp) single nucleotide variant Inborn genetic diseases [RCV002754350] Chr4:139472863 [GRCh38]
Chr4:140394017 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.403C>T (p.His135Tyr) single nucleotide variant Inborn genetic diseases [RCV002911260] Chr4:139472839 [GRCh38]
Chr4:140393993 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.42G>T (p.Ser14=) single nucleotide variant not provided [RCV002691048] Chr4:139454237 [GRCh38]
Chr4:140375391 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.562G>A (p.Val188Met) single nucleotide variant Inborn genetic diseases [RCV002821421] Chr4:139472998 [GRCh38]
Chr4:140394152 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.416A>G (p.Asn139Ser) single nucleotide variant not provided [RCV002805488] Chr4:139472852 [GRCh38]
Chr4:140394006 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.333C>T (p.Val111=) single nucleotide variant not provided [RCV002871880] Chr4:139472769 [GRCh38]
Chr4:140393923 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.561T>C (p.His187=) single nucleotide variant not provided [RCV002982272] Chr4:139472997 [GRCh38]
Chr4:140394151 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.681C>T (p.Cys227=) single nucleotide variant not provided [RCV002717032] Chr4:139473117 [GRCh38]
Chr4:140394271 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.671C>T (p.Ala224Val) single nucleotide variant not provided [RCV002588295] Chr4:139473107 [GRCh38]
Chr4:140394261 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.250-20C>T single nucleotide variant not provided [RCV002608206] Chr4:139472666 [GRCh38]
Chr4:140393820 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.174C>A (p.Phe58Leu) single nucleotide variant not provided [RCV002814820] Chr4:139454369 [GRCh38]
Chr4:140375523 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.94C>T (p.Arg32Cys) single nucleotide variant Inborn genetic diseases [RCV003193277] Chr4:139454289 [GRCh38]
Chr4:140375443 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.186C>G (p.Thr62=) single nucleotide variant not provided [RCV003543878] Chr4:139454381 [GRCh38]
Chr4:140375535 [GRCh37]
Chr4:4q31.1
likely benign
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3
pathogenic
NM_031296.3(RAB33B):c.133G>A (p.Gly45Ser) single nucleotide variant Smith-McCort dysplasia 2 [RCV003488826] Chr4:139454328 [GRCh38]
Chr4:140375482 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_031296.3(RAB33B):c.250-18T>C single nucleotide variant not provided [RCV003837745] Chr4:139472668 [GRCh38]
Chr4:140393822 [GRCh37]
Chr4:4q31.1
likely benign
NM_031296.3(RAB33B):c.66C>T (p.Ala22=) single nucleotide variant not provided [RCV003857323] Chr4:139454261 [GRCh38]
Chr4:140375415 [GRCh37]
Chr4:4q31.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1331
Count of miRNA genes:828
Interacting mature miRNAs:929
Transcripts:ENST00000305626, ENST00000507271
Prediction methods:Miranda, Rnahybrid
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
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


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 184 814 152 116 479 118 745 93 583 84 294 225 140 477 1
Low 2253 2149 1574 508 1448 347 3610 2100 3149 334 1166 1388 174 1 1064 2311 5 2
Below cutoff 1 28 24 1 4 2 1

Sequence


RefSeq Acc Id: ENST00000305626   ⟹   ENSP00000306496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,454,121 - 139,476,609 (+)Ensembl
RefSeq Acc Id: ENST00000507271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,453,232 - 139,454,285 (+)Ensembl
RefSeq Acc Id: ENST00000652268   ⟹   ENSP00000498778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,453,423 - 139,475,870 (+)Ensembl
RefSeq Acc Id: NM_031296   ⟹   NP_112586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,454,121 - 139,476,609 (+)NCBI
GRCh374140,374,961 - 140,397,070 (+)RGD
Build 364140,594,411 - 140,616,520 (+)NCBI Archive
Celera4137,707,125 - 137,729,232 (+)RGD
HuRef4136,104,846 - 136,126,566 (+)RGD
CHM1_14140,352,225 - 140,374,330 (+)NCBI
T2T-CHM13v2.04142,773,772 - 142,796,260 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532299   ⟹   XP_011530601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,438,376 - 139,476,609 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054350952   ⟹   XP_054206927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04142,758,027 - 142,796,260 (+)NCBI
RefSeq Acc Id: NP_112586   ⟸   NM_031296
- UniProtKB: B2R987 (UniProtKB/Swiss-Prot),   Q4W5B0 (UniProtKB/Swiss-Prot),   Q9H082 (UniProtKB/Swiss-Prot),   Q5U602 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530601   ⟸   XM_011532299
- Peptide Label: isoform X1
- UniProtKB: A0A494C0Z5 (UniProtKB/TrEMBL),   Q5U602 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498778   ⟸   ENST00000652268
RefSeq Acc Id: ENSP00000306496   ⟸   ENST00000305626
RefSeq Acc Id: XP_054206927   ⟸   XM_054350952
- Peptide Label: isoform X1
- UniProtKB: A0A494C0Z5 (UniProtKB/TrEMBL),   Q5U602 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H082-F1-model_v2 AlphaFold Q9H082 1-229 view protein structure

Promoters
RGD ID:6868514
Promoter ID:EPDNEW_H7421
Type:initiation region
Name:RAB33B_1
Description:RAB33B, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7422  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,453,816 - 139,453,876EPDNEW
RGD ID:6868516
Promoter ID:EPDNEW_H7422
Type:initiation region
Name:RAB33B_2
Description:RAB33B, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7421  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,454,175 - 139,454,235EPDNEW
RGD ID:6802548
Promoter ID:HG_KWN:49160
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:OTTHUMT00000257235
Position:
Human AssemblyChrPosition (strand)Source
Build 364140,594,131 - 140,594,867 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16075 AgrOrtholog
COSMIC RAB33B COSMIC
Ensembl Genes ENSG00000172007 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000305626 ENTREZGENE
  ENST00000305626.6 UniProtKB/Swiss-Prot
  ENST00000652268 ENTREZGENE
  ENST00000652268.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172007 GTEx
HGNC ID HGNC:16075 ENTREZGENE
Human Proteome Map RAB33B Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab33A/B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83452 UniProtKB/Swiss-Prot
NCBI Gene 83452 ENTREZGENE
OMIM 605950 OMIM
PANTHER PTHR47978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS-RELATED PROTEIN RAB-33B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34125 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ARF UniProtKB/TrEMBL
  RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/TrEMBL
SMART RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0Z5 ENTREZGENE, UniProtKB/TrEMBL
  B2R987 ENTREZGENE
  Q4W5B0 ENTREZGENE
  Q5U602 ENTREZGENE, UniProtKB/TrEMBL
  Q9H082 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R987 UniProtKB/Swiss-Prot
  Q4W5B0 UniProtKB/Swiss-Prot