BMS1 (BMS1 ribosome biogenesis factor) - Rat Genome Database

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Gene: BMS1 (BMS1 ribosome biogenesis factor) Homo sapiens
Analyze
Symbol: BMS1
Name: BMS1 ribosome biogenesis factor
RGD ID: 1345685
HGNC Page HGNC:23505
Description: Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome; nucleolus; and nucleoplasm. Part of small-subunit processome. Implicated in nonsyndromic aplasia cutis congenita.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACC; BMS1 homolog, ribosome assembly protein; BMS1, ribosome biogenesis factor; BMS1-like, ribosome assembly protein; bms1-like, ribosome assembly protein (yeast); BMS1L; KIAA0187; ribosome assembly protein BMS1 homolog; ribosome biogenesis protein BMS1 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: BMS1P1   BMS1P10   BMS1P11   BMS1P12   BMS1P13   BMS1P14   BMS1P15   BMS1P16   BMS1P17   BMS1P18   BMS1P19   BMS1P2   BMS1P2-AGAP9   BMS1P20   BMS1P21   BMS1P22   BMS1P23   BMS1P3   BMS1P4   BMS1P4-AGAP5   BMS1P7   BMS1P8   BMS1P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381042,782,795 - 42,834,937 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1042,782,795 - 42,834,937 (+)EnsemblGRCh38hg38GRCh38
GRCh371043,278,243 - 43,330,385 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361042,598,265 - 42,646,856 (+)NCBINCBI36Build 36hg18NCBI36
Build 341042,598,264 - 42,646,855NCBI
Celera1039,281,288 - 39,333,715 (+)NCBICelera
Cytogenetic Map10q11.21NCBI
HuRef1039,804,351 - 39,856,723 (+)NCBIHuRef
CHM1_11043,317,039 - 43,369,460 (+)NCBICHM1_1
T2T-CHM13v2.01043,660,231 - 43,712,380 (+)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
chromosome  (IDA)
nucleolus  (IDA,IEA,ISS)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)
small-subunit processome  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype 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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. The roles of SSU processome components and surveillance factors in the initial processing of human ribosomal RNA. Sloan KE, etal., RNA. 2014 Apr;20(4):540-50. doi: 10.1261/rna.043471.113. Epub 2014 Feb 18.
Additional References at PubMed
PMID:8724849   PMID:10942432   PMID:11565749   PMID:11779832   PMID:11790298   PMID:12477932   PMID:15489334   PMID:15635413   PMID:16344560   PMID:18029348   PMID:19204726   PMID:19615732  
PMID:21685912   PMID:21873635   PMID:21907836   PMID:22113938   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22952844   PMID:23785305   PMID:24457600   PMID:25609649   PMID:25665578  
PMID:25693804   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26471122   PMID:26527279   PMID:27591049   PMID:27880917   PMID:28514442   PMID:28675297   PMID:28700943   PMID:28977666  
PMID:29298432   PMID:29395067   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29676528   PMID:29802200   PMID:29991511   PMID:30021884   PMID:30404004  
PMID:30415952   PMID:30463901   PMID:30585729   PMID:30622330   PMID:30745168   PMID:30833792   PMID:30884312   PMID:30940648   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31239290  
PMID:31527615   PMID:31586073   PMID:31665637   PMID:31871319   PMID:31980649   PMID:32041737   PMID:32344865   PMID:32687490   PMID:32698014   PMID:32707033   PMID:32807901   PMID:32877691  
PMID:33005030   PMID:33060197   PMID:33301849   PMID:33306668   PMID:33545068   PMID:33731348   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34373451  
PMID:34516797   PMID:34578187   PMID:34728620   PMID:35013218   PMID:35140242   PMID:35253629   PMID:35271311   PMID:35509820   PMID:35833506   PMID:35844135   PMID:35850772   PMID:35915203  
PMID:35944360   PMID:35973513   PMID:36057605   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36424410   PMID:36526897   PMID:36912080   PMID:37071682   PMID:37314216   PMID:37451810  
PMID:37689310   PMID:37827155   PMID:38113892   PMID:38172120   PMID:38697112   PMID:38943005   PMID:39358380  


Genomics

Comparative Map Data
BMS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381042,782,795 - 42,834,937 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1042,782,795 - 42,834,937 (+)EnsemblGRCh38hg38GRCh38
GRCh371043,278,243 - 43,330,385 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361042,598,265 - 42,646,856 (+)NCBINCBI36Build 36hg18NCBI36
Build 341042,598,264 - 42,646,855NCBI
Celera1039,281,288 - 39,333,715 (+)NCBICelera
Cytogenetic Map10q11.21NCBI
HuRef1039,804,351 - 39,856,723 (+)NCBIHuRef
CHM1_11043,317,039 - 43,369,460 (+)NCBICHM1_1
T2T-CHM13v2.01043,660,231 - 43,712,380 (+)NCBIT2T-CHM13v2.0
Bms1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396118,360,342 - 118,396,772 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6118,360,342 - 118,396,435 (-)EnsemblGRCm39 Ensembl
GRCm386118,383,381 - 118,419,802 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6118,383,381 - 118,419,474 (-)EnsemblGRCm38mm10GRCm38
MGSCv376118,333,399 - 118,369,435 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366118,349,000 - 118,385,036 (-)NCBIMGSCv36mm8
Celera6120,205,779 - 120,241,558 (-)NCBICelera
Cytogenetic Map6F1NCBI
cM Map655.86NCBI
Bms1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84153,230,471 - 153,267,437 (-)NCBIGRCr8
mRatBN7.24151,558,163 - 151,595,187 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4151,558,163 - 151,595,127 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4157,821,518 - 157,857,787 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04153,605,181 - 153,641,448 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04152,228,528 - 152,264,795 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04150,433,567 - 150,471,783 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4150,433,570 - 150,471,834 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04216,359,608 - 216,395,631 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44154,687,169 - 154,721,783 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14154,932,012 - 154,969,857 (-)NCBI
Celera4140,428,894 - 140,464,833 (-)NCBICelera
Cytogenetic Map4q42NCBI
Bms1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555461,054,209 - 1,092,327 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555461,054,208 - 1,089,048 (+)NCBIChiLan1.0ChiLan1.0
BMS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2855,496,708 - 55,546,250 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11055,502,023 - 55,551,579 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01039,757,627 - 39,806,401 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11042,942,439 - 42,983,304 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1042,944,081 - 42,990,235 (+)Ensemblpanpan1.1panPan2
BMS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1284,178,625 - 4,235,749 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl284,178,627 - 4,234,052 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha284,413,712 - 4,470,894 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0284,395,173 - 4,452,876 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1284,157,600 - 4,214,741 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0284,200,389 - 4,257,562 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0284,334,938 - 4,392,112 (-)NCBIUU_Cfam_GSD_1.0
Bms1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721384,098,623 - 84,153,392 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366172,636,222 - 2,686,456 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366172,636,273 - 2,685,524 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1461,087,670 - 61,125,980 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11461,056,075 - 61,125,984 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21465,917,854 - 65,956,269 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1938,459,322 - 38,503,090 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl938,459,237 - 38,505,560 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605647,986,334 - 48,030,992 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bms1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624922173,652 - 212,107 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624922173,616 - 209,170 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMS1
144 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
NM_014753.4(BMS1):c.2789G>A (p.Arg930His) single nucleotide variant Aplasia cutis congenita [RCV000144047] Chr10:42820527 [GRCh38]
Chr10:43315975 [GRCh37]
Chr10:10q11.21		 pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.21(chr10:42334773-42860962)x1 copy number loss See cases [RCV000136033] Chr10:42334773..42860962 [GRCh38]
Chr10:42830221..43356410 [GRCh37]
Chr10:42150227..42676416 [NCBI36]
Chr10:10q11.21		 uncertain significance
GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3 copy number gain See cases [RCV000137126] Chr10:42395216..43234240 [GRCh38]
Chr10:42890664..43729688 [GRCh37]
Chr10:42210670..43049694 [NCBI36]
Chr10:10q11.21		 uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3 copy number gain See cases [RCV000510280] Chr10:42706947..44489498 [GRCh37]
Chr10:10q11.21		 uncertain significance
GRCh37/hg19 10q11.21(chr10:42706947-43294214)x4 copy number gain See cases [RCV000511894] Chr10:42706947..43294214 [GRCh37]
Chr10:10q11.21		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_014753.4(BMS1):c.3599G>A (p.Arg1200His) single nucleotide variant not specified [RCV004287579] Chr10:42830403 [GRCh38]
Chr10:43325851 [GRCh37]
Chr10:10q11.21		 uncertain significance
GRCh37/hg19 10q11.21(chr10:43326627-43366037)x3 copy number gain not provided [RCV000749577] Chr10:43326627..43366037 [GRCh37]
Chr10:10q11.21		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_014753.4(BMS1):c.3388C>T (p.Arg1130Trp) single nucleotide variant BMS1-related disorder [RCV003958019]|not provided [RCV000894858] Chr10:42823716 [GRCh38]
Chr10:43319164 [GRCh37]
Chr10:10q11.21		 benign
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3 copy number gain not provided [RCV000762700] Chr10:37149872..46169876 [GRCh37]
Chr10:10p11.21-q11.22		 likely pathogenic
NM_014753.4(BMS1):c.1679G>A (p.Arg560His) single nucleotide variant BMS1-related disorder [RCV003958175]|not provided [RCV000903297] Chr10:42796923 [GRCh38]
Chr10:43292371 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.2396A>G (p.Asn799Ser) single nucleotide variant BMS1-related disorder [RCV003958221]|not provided [RCV000905543] Chr10:42816665 [GRCh38]
Chr10:43312113 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1605G>A (p.Lys535=) single nucleotide variant not provided [RCV000928045] Chr10:42796849 [GRCh38]
Chr10:43292297 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.2826C>T (p.Ile942=) single nucleotide variant not provided [RCV000948843] Chr10:42820564 [GRCh38]
Chr10:43316012 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.848A>G (p.Tyr283Cys) single nucleotide variant BMS1-related disorder [RCV003960759]|not provided [RCV000964510] Chr10:42792561 [GRCh38]
Chr10:43288009 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.902-4C>T single nucleotide variant not provided [RCV000936943] Chr10:42792953 [GRCh38]
Chr10:43288401 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1674T>C (p.Ser558=) single nucleotide variant not provided [RCV000900954] Chr10:42796918 [GRCh38]
Chr10:43292366 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.316T>C (p.Phe106Leu) single nucleotide variant not provided [RCV000904738] Chr10:42785621 [GRCh38]
Chr10:43281069 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.63A>G (p.Lys21=) single nucleotide variant not provided [RCV000899887] Chr10:42784457 [GRCh38]
Chr10:43279905 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.2589C>T (p.Arg863=) single nucleotide variant not provided [RCV000951287] Chr10:42820244 [GRCh38]
Chr10:43315692 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.2824A>G (p.Ile942Val) single nucleotide variant not provided [RCV000910380] Chr10:42820562 [GRCh38]
Chr10:43316010 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.1011G>A (p.Ala337=) single nucleotide variant not provided [RCV000933092] Chr10:42793066 [GRCh38]
Chr10:43288514 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1500A>G (p.Ala500=) single nucleotide variant BMS1-related disorder [RCV003922890]|not provided [RCV000897148] Chr10:42796744 [GRCh38]
Chr10:43292192 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.1759G>C (p.Val587Leu) single nucleotide variant not provided [RCV000959871] Chr10:42797003 [GRCh38]
Chr10:43292451 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.260T>C (p.Val87Ala) single nucleotide variant BMS1-related disorder [RCV003906099]|not provided [RCV000977380] Chr10:42785565 [GRCh38]
Chr10:43281013 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1554G>A (p.Ala518=) single nucleotide variant not provided [RCV000922996] Chr10:42796798 [GRCh38]
Chr10:43292246 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.2302G>A (p.Asp768Asn) single nucleotide variant not provided [RCV000963070] Chr10:42802191 [GRCh38]
Chr10:43297639 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.1654T>C (p.Ser552Pro) single nucleotide variant BMS1-related disorder [RCV003935980]|not provided [RCV000964315] Chr10:42796898 [GRCh38]
Chr10:43292346 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.641C>T (p.Ala214Val) single nucleotide variant BMS1-related disorder [RCV003932955]|not provided [RCV000909431] Chr10:42791631 [GRCh38]
Chr10:43287079 [GRCh37]
Chr10:10q11.21		 benign|likely benign
NM_014753.4(BMS1):c.144G>A (p.Gln48=) single nucleotide variant not provided [RCV000907264] Chr10:42784538 [GRCh38]
Chr10:43279986 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1855A>G (p.Lys619Glu) single nucleotide variant not provided [RCV000900452] Chr10:42797099 [GRCh38]
Chr10:43292547 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1320A>G (p.Gly440=) single nucleotide variant not provided [RCV000899783] Chr10:42796564 [GRCh38]
Chr10:43292012 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.3762C>A (p.Leu1254=) single nucleotide variant not provided [RCV000938137] Chr10:42831009 [GRCh38]
Chr10:43326457 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.3324G>A (p.Ala1108=) single nucleotide variant BMS1-related disorder [RCV003935924]|not provided [RCV000959872] Chr10:42823652 [GRCh38]
Chr10:43319100 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.114G>A (p.Arg38=) single nucleotide variant not provided [RCV000919597] Chr10:42784508 [GRCh38]
Chr10:43279956 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.779+9T>C single nucleotide variant not provided [RCV000983650] Chr10:42791778 [GRCh38]
Chr10:43287226 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1749A>T (p.Thr583=) single nucleotide variant not provided [RCV000925284] Chr10:42796993 [GRCh38]
Chr10:43292441 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.3546C>T (p.Thr1182=) single nucleotide variant not provided [RCV000888744] Chr10:42830350 [GRCh38]
Chr10:43325798 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.710G>A (p.Arg237His) single nucleotide variant BMS1-related disorder [RCV003905861]|not provided [RCV000963661] Chr10:42791700 [GRCh38]
Chr10:43287148 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.3669G>A (p.Lys1223=) single nucleotide variant BMS1-related disorder [RCV003920593]|not provided [RCV000883745] Chr10:42830916 [GRCh38]
Chr10:43326364 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.3834G>A (p.Glu1278=) single nucleotide variant BMS1-related disorder [RCV003920532]|not provided [RCV000881342] Chr10:42831081 [GRCh38]
Chr10:43326529 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1080C>T (p.His360=) single nucleotide variant not provided [RCV000931209] Chr10:42793135 [GRCh38]
Chr10:43288583 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.3132+9A>G single nucleotide variant BMS1-related disorder [RCV003970444]|not provided [RCV000917151] Chr10:42822193 [GRCh38]
Chr10:43317641 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.112C>T (p.Arg38Trp) single nucleotide variant not provided [RCV000885606] Chr10:42784506 [GRCh38]
Chr10:43279954 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.1983G>A (p.Thr661=) single nucleotide variant not provided [RCV000913211] Chr10:42797227 [GRCh38]
Chr10:43292675 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.636+10G>T single nucleotide variant not provided [RCV000912743] Chr10:42790521 [GRCh38]
Chr10:43285969 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1144A>T (p.Thr382Ser) single nucleotide variant not specified [RCV004324993] Chr10:42793906 [GRCh38]
Chr10:43289354 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2225C>T (p.Pro742Leu) single nucleotide variant Aplasia cutis congenita [RCV001682624] Chr10:42798603 [GRCh38]
Chr10:43294051 [GRCh37]
Chr10:10q11.21		 uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
NM_014753.4(BMS1):c.516A>C (p.Gln172His) single nucleotide variant not specified [RCV004297744] Chr10:42790391 [GRCh38]
Chr10:43285839 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2051A>G (p.Gln684Arg) single nucleotide variant not specified [RCV004111762] Chr10:42797485 [GRCh38]
Chr10:43292933 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1081G>A (p.Val361Ile) single nucleotide variant not specified [RCV004078050] Chr10:42793136 [GRCh38]
Chr10:43288584 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1178C>T (p.Thr393Met) single nucleotide variant not specified [RCV004109091] Chr10:42793940 [GRCh38]
Chr10:43289388 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.559G>A (p.Asp187Asn) single nucleotide variant not specified [RCV004139991] Chr10:42790434 [GRCh38]
Chr10:43285882 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.926A>G (p.Asp309Gly) single nucleotide variant not specified [RCV004128040] Chr10:42792981 [GRCh38]
Chr10:43288429 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.154C>T (p.Arg52Trp) single nucleotide variant not specified [RCV004076657] Chr10:42784548 [GRCh38]
Chr10:43279996 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1046A>C (p.Lys349Thr) single nucleotide variant not specified [RCV004138965] Chr10:42793101 [GRCh38]
Chr10:43288549 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1084T>C (p.Phe362Leu) single nucleotide variant not specified [RCV004165400] Chr10:42793139 [GRCh38]
Chr10:43288587 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1388A>G (p.Glu463Gly) single nucleotide variant not specified [RCV004138847] Chr10:42796632 [GRCh38]
Chr10:43292080 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.812G>A (p.Arg271Gln) single nucleotide variant not specified [RCV004225843] Chr10:42792525 [GRCh38]
Chr10:43287973 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.251T>C (p.Val84Ala) single nucleotide variant not specified [RCV004177075] Chr10:42785556 [GRCh38]
Chr10:43281004 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1402G>A (p.Glu468Lys) single nucleotide variant not specified [RCV004238789] Chr10:42796646 [GRCh38]
Chr10:43292094 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1129A>C (p.Ile377Leu) single nucleotide variant not specified [RCV004211589] Chr10:42793891 [GRCh38]
Chr10:43289339 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3578G>A (p.Arg1193Lys) single nucleotide variant not specified [RCV004134924] Chr10:42830382 [GRCh38]
Chr10:43325830 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1006T>A (p.Tyr336Asn) single nucleotide variant not specified [RCV004143647] Chr10:42793061 [GRCh38]
Chr10:43288509 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2923C>T (p.His975Tyr) single nucleotide variant not specified [RCV004103901] Chr10:42820661 [GRCh38]
Chr10:43316109 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.60G>T (p.Lys20Asn) single nucleotide variant not specified [RCV004091701] Chr10:42784454 [GRCh38]
Chr10:43279902 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3307C>T (p.Pro1103Ser) single nucleotide variant not specified [RCV004230758] Chr10:42823635 [GRCh38]
Chr10:43319083 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1624G>A (p.Ala542Thr) single nucleotide variant not specified [RCV004105872] Chr10:42796868 [GRCh38]
Chr10:43292316 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1363G>A (p.Gly455Arg) single nucleotide variant not specified [RCV004087832] Chr10:42796607 [GRCh38]
Chr10:43292055 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1850T>C (p.Leu617Pro) single nucleotide variant not specified [RCV004149643] Chr10:42797094 [GRCh38]
Chr10:43292542 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1886T>C (p.Leu629Pro) single nucleotide variant not specified [RCV004159293] Chr10:42797130 [GRCh38]
Chr10:43292578 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.377G>A (p.Arg126His) single nucleotide variant not specified [RCV004159387] Chr10:42787177 [GRCh38]
Chr10:43282625 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2282G>A (p.Gly761Glu) single nucleotide variant not specified [RCV004148339] Chr10:42802171 [GRCh38]
Chr10:43297619 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.199A>G (p.Lys67Glu) single nucleotide variant not specified [RCV004231505] Chr10:42785504 [GRCh38]
Chr10:43280952 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2279C>T (p.Thr760Ile) single nucleotide variant not specified [RCV004169405] Chr10:42802168 [GRCh38]
Chr10:43297616 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.631T>C (p.Tyr211His) single nucleotide variant not specified [RCV004072670] Chr10:42790506 [GRCh38]
Chr10:43285954 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1876G>A (p.Gly626Ser) single nucleotide variant not specified [RCV004201645] Chr10:42797120 [GRCh38]
Chr10:43292568 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1815A>T (p.Glu605Asp) single nucleotide variant not specified [RCV004075723] Chr10:42797059 [GRCh38]
Chr10:43292507 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.376C>T (p.Arg126Cys) single nucleotide variant not specified [RCV004221294] Chr10:42787176 [GRCh38]
Chr10:43282624 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.826T>C (p.Cys276Arg) single nucleotide variant not specified [RCV004118582] Chr10:42792539 [GRCh38]
Chr10:43287987 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.941C>A (p.Pro314Gln) single nucleotide variant not specified [RCV004123623] Chr10:42792996 [GRCh38]
Chr10:43288444 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2588G>A (p.Arg863His) single nucleotide variant not specified [RCV004186578] Chr10:42820243 [GRCh38]
Chr10:43315691 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1270A>G (p.Thr424Ala) single nucleotide variant not specified [RCV004261002] Chr10:42796514 [GRCh38]
Chr10:43291962 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2714A>T (p.Tyr905Phe) single nucleotide variant not specified [RCV004271384] Chr10:42820369 [GRCh38]
Chr10:43315817 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2702T>C (p.Phe901Ser) single nucleotide variant not specified [RCV004269607] Chr10:42820357 [GRCh38]
Chr10:43315805 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2611G>A (p.Asp871Asn) single nucleotide variant not specified [RCV004280713] Chr10:42820266 [GRCh38]
Chr10:43315714 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.323G>A (p.Arg108Gln) single nucleotide variant not specified [RCV004260086] Chr10:42785628 [GRCh38]
Chr10:43281076 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1030G>C (p.Gly344Arg) single nucleotide variant not specified [RCV004268155] Chr10:42793085 [GRCh38]
Chr10:43288533 [GRCh37]
Chr10:10q11.21		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_014753.4(BMS1):c.1172G>A (p.Arg391Gln) single nucleotide variant not specified [RCV004344347] Chr10:42793934 [GRCh38]
Chr10:43289382 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1124G>A (p.Ser375Asn) single nucleotide variant not specified [RCV004349451] Chr10:42793886 [GRCh38]
Chr10:43289334 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1892C>T (p.Pro631Leu) single nucleotide variant not specified [RCV004343908] Chr10:42797136 [GRCh38]
Chr10:43292584 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2989C>A (p.Gln997Lys) single nucleotide variant not specified [RCV004356679] Chr10:42820972 [GRCh38]
Chr10:43316420 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2050C>G (p.Gln684Glu) single nucleotide variant not specified [RCV004344065] Chr10:42797484 [GRCh38]
Chr10:43292932 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2935G>A (p.Gly979Arg) single nucleotide variant not specified [RCV004349578] Chr10:42820673 [GRCh38]
Chr10:43316121 [GRCh37]
Chr10:10q11.21		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_014753.4(BMS1):c.779+8A>G single nucleotide variant BMS1-related disorder [RCV003939829] Chr10:42791777 [GRCh38]
Chr10:43287225 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.867A>G (p.Ala289=) single nucleotide variant BMS1-related disorder [RCV003909218]|not provided [RCV003885164] Chr10:42792580 [GRCh38]
Chr10:43288028 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1255C>G (p.Gln419Glu) single nucleotide variant BMS1-related disorder [RCV003916943] Chr10:42796499 [GRCh38]
Chr10:43291947 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.1645G>A (p.Ala549Thr) single nucleotide variant BMS1-related disorder [RCV003921708] Chr10:42796889 [GRCh38]
Chr10:43292337 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.3141T>G (p.Phe1047Leu) single nucleotide variant BMS1-related disorder [RCV003897405] Chr10:42823126 [GRCh38]
Chr10:43318574 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.1749A>G (p.Thr583=) single nucleotide variant BMS1-related disorder [RCV003924311] Chr10:42796993 [GRCh38]
Chr10:43292441 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.2940A>T (p.Ala980=) single nucleotide variant BMS1-related disorder [RCV003963972] Chr10:42820678 [GRCh38]
Chr10:43316126 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.2341G>T (p.Gly781Cys) single nucleotide variant BMS1-related disorder [RCV003921845] Chr10:42816610 [GRCh38]
Chr10:43312058 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.737C>T (p.Pro246Leu) single nucleotide variant BMS1-related disorder [RCV003937171] Chr10:42791727 [GRCh38]
Chr10:43287175 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.779+7T>A single nucleotide variant BMS1-related disorder [RCV003937155] Chr10:42791776 [GRCh38]
Chr10:43287224 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.2590G>A (p.Ala864Thr) single nucleotide variant BMS1-related disorder [RCV003976462] Chr10:42820245 [GRCh38]
Chr10:43315693 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.771G>T (p.Leu257=) single nucleotide variant not provided [RCV003886108] Chr10:42791761 [GRCh38]
Chr10:43287209 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1197G>A (p.Lys399=) single nucleotide variant BMS1-related disorder [RCV003982183] Chr10:42793959 [GRCh38]
Chr10:43289407 [GRCh37]
Chr10:10q11.21		 benign
NM_014753.4(BMS1):c.3281-10C>T single nucleotide variant BMS1-related disorder [RCV003968949] Chr10:42823599 [GRCh38]
Chr10:43319047 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.3457-14_3457-11del deletion BMS1-related disorder [RCV003957145] Chr10:42830244..42830247 [GRCh38]
Chr10:43325692..43325695 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1374C>T (p.Asn458=) single nucleotide variant not provided [RCV003885194] Chr10:42796618 [GRCh38]
Chr10:43292066 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1515C>T (p.Asp505=) single nucleotide variant BMS1-related disorder [RCV003944373] Chr10:42796759 [GRCh38]
Chr10:43292207 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.1600G>C (p.Glu534Gln) single nucleotide variant not specified [RCV004433948] Chr10:42796844 [GRCh38]
Chr10:43292292 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1702C>G (p.Leu568Val) single nucleotide variant not specified [RCV004433949] Chr10:42796946 [GRCh38]
Chr10:43292394 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2660G>A (p.Arg887His) single nucleotide variant not specified [RCV004433952] Chr10:42820315 [GRCh38]
Chr10:43315763 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1456C>T (p.Arg486Trp) single nucleotide variant not specified [RCV004433945] Chr10:42796700 [GRCh38]
Chr10:43292148 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2644C>T (p.Pro882Ser) single nucleotide variant not specified [RCV004433951] Chr10:42820299 [GRCh38]
Chr10:43315747 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2755G>A (p.Val919Ile) single nucleotide variant not specified [RCV004433953] Chr10:42820410 [GRCh38]
Chr10:43315858 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2793G>T (p.Trp931Cys) single nucleotide variant not specified [RCV004433954] Chr10:42820531 [GRCh38]
Chr10:43315979 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3203G>A (p.Arg1068Lys) single nucleotide variant not specified [RCV004433956] Chr10:42823188 [GRCh38]
Chr10:43318636 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3248G>C (p.Arg1083Thr) single nucleotide variant not specified [RCV004433957] Chr10:42823233 [GRCh38]
Chr10:43318681 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3788G>C (p.Gly1263Ala) single nucleotide variant not specified [RCV004433962] Chr10:42831035 [GRCh38]
Chr10:43326483 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.815C>G (p.Thr272Arg) single nucleotide variant not specified [RCV004433964] Chr10:42792528 [GRCh38]
Chr10:43287976 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.824A>G (p.Lys275Arg) single nucleotide variant not specified [RCV004433966] Chr10:42792537 [GRCh38]
Chr10:43287985 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.86T>G (p.Leu29Arg) single nucleotide variant not specified [RCV004433968] Chr10:42784480 [GRCh38]
Chr10:43279928 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1271C>G (p.Thr424Ser) single nucleotide variant not specified [RCV004433943] Chr10:42796515 [GRCh38]
Chr10:43291963 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2098G>A (p.Asp700Asn) single nucleotide variant not specified [RCV004433950] Chr10:42798476 [GRCh38]
Chr10:43293924 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.356C>T (p.Thr119Met) single nucleotide variant not specified [RCV004433958] Chr10:42785661 [GRCh38]
Chr10:43281109 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.449T>C (p.Val150Ala) single nucleotide variant not specified [RCV004433963] Chr10:42790324 [GRCh38]
Chr10:43285772 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1066C>T (p.Leu356Phe) single nucleotide variant not specified [RCV004433939] Chr10:42793121 [GRCh38]
Chr10:43288569 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1157A>G (p.Lys386Arg) single nucleotide variant not specified [RCV004433940] Chr10:42793919 [GRCh38]
Chr10:43289367 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1433T>C (p.Met478Thr) single nucleotide variant not specified [RCV004433944] Chr10:42796677 [GRCh38]
Chr10:43292125 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3185G>A (p.Arg1062Gln) single nucleotide variant not specified [RCV004433955] Chr10:42823170 [GRCh38]
Chr10:43318618 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1031G>C (p.Gly344Ala) single nucleotide variant not specified [RCV004433938] Chr10:42793086 [GRCh38]
Chr10:43288534 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1214A>G (p.Asp405Gly) single nucleotide variant not specified [RCV004433942] Chr10:42793976 [GRCh38]
Chr10:43289424 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1544A>T (p.Glu515Val) single nucleotide variant not specified [RCV004433947] Chr10:42796788 [GRCh38]
Chr10:43292236 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3587C>T (p.Pro1196Leu) single nucleotide variant not specified [RCV004433959] Chr10:42830391 [GRCh38]
Chr10:43325839 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3711C>A (p.Phe1237Leu) single nucleotide variant not specified [RCV004433960] Chr10:42830958 [GRCh38]
Chr10:43326406 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.817A>G (p.Asn273Asp) single nucleotide variant not specified [RCV004433965] Chr10:42792530 [GRCh38]
Chr10:43287978 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.851G>A (p.Gly284Asp) single nucleotide variant not specified [RCV004433967] Chr10:42792564 [GRCh38]
Chr10:43288012 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3581G>A (p.Arg1194Gln) single nucleotide variant not specified [RCV004600563] Chr10:42830385 [GRCh38]
Chr10:43325833 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1997A>G (p.Lys666Arg) single nucleotide variant not specified [RCV004600564] Chr10:42797431 [GRCh38]
Chr10:43292879 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2684G>T (p.Cys895Phe) single nucleotide variant not specified [RCV004600568] Chr10:42820339 [GRCh38]
Chr10:43315787 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1804G>A (p.Ala602Thr) single nucleotide variant not specified [RCV004600557] Chr10:42797048 [GRCh38]
Chr10:43292496 [GRCh37]
Chr10:10q11.21		 likely benign
NM_014753.4(BMS1):c.3652C>T (p.His1218Tyr) single nucleotide variant not specified [RCV004600559] Chr10:42830899 [GRCh38]
Chr10:43326347 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3580C>T (p.Arg1194Trp) single nucleotide variant not specified [RCV004600560] Chr10:42830384 [GRCh38]
Chr10:43325832 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1282C>T (p.Arg428Cys) single nucleotide variant not specified [RCV004600566] Chr10:42796526 [GRCh38]
Chr10:43291974 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.833G>A (p.Arg278Gln) single nucleotide variant not specified [RCV004600561] Chr10:42792546 [GRCh38]
Chr10:43287994 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2684G>A (p.Cys895Tyr) single nucleotide variant not specified [RCV004600570] Chr10:42820339 [GRCh38]
Chr10:43315787 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.2054C>T (p.Ala685Val) single nucleotide variant not specified [RCV004600565] Chr10:42797488 [GRCh38]
Chr10:43292936 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.3706C>T (p.His1236Tyr) single nucleotide variant not specified [RCV004600567] Chr10:42830953 [GRCh38]
Chr10:43326401 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.1877G>A (p.Gly626Asp) single nucleotide variant not specified [RCV004600562] Chr10:42797121 [GRCh38]
Chr10:43292569 [GRCh37]
Chr10:10q11.21		 uncertain significance
NM_014753.4(BMS1):c.442G>C (p.Asp148His) single nucleotide variant not specified [RCV004600571] Chr10:42787242 [GRCh38]
Chr10:43282690 [GRCh37]
Chr10:10q11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1161
Count of miRNA genes:655
Interacting mature miRNAs:738
Transcripts:ENST00000374518
Prediction methods:Miranda
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643515BW287_HBody Weight QTL 287 (human)2.450.0004Body weightBMI101842411044424110Human
1300009BW22_HBody weight QTL 22 (human)2.32Body weightbody mass index101842411044424110Human

Markers in Region
RH15653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,326,645 - 43,326,761UniSTSGRCh37
GRCh371633,489,580 - 33,489,693UniSTSGRCh37
Build 361042,646,651 - 42,646,767RGDNCBI36
Celera1039,329,976 - 39,330,092RGD
Celera1628,174,069 - 28,174,182UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16p11.2UniSTS
HuRef1039,852,984 - 39,853,100UniSTS
HuRef1630,132,989 - 30,133,102UniSTS
BMS1L_8992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371633,489,466 - 33,489,990UniSTSGRCh37
GRCh371043,326,348 - 43,326,876UniSTSGRCh37
Build 361042,646,354 - 42,646,882RGDNCBI36
Celera1628,173,955 - 28,174,479UniSTS
Celera1039,329,679 - 39,330,207RGD
HuRef1630,132,875 - 30,133,399UniSTS
HuRef1039,852,687 - 39,853,215UniSTS
RH25401  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map10q11.21UniSTS
GeneMap99-GB4 RH Map10281.21UniSTS
NCBI RH Map10591.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007062019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI184520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI718109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX485446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D80009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB064246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000374518   ⟹   ENSP00000363642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1042,782,795 - 42,834,937 (+)Ensembl
RefSeq Acc Id: NM_014753   ⟹   NP_055568
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,834,937 (+)NCBI
GRCh371043,277,954 - 43,330,385 (+)NCBI
Build 361042,598,265 - 42,646,856 (+)NCBI Archive
Celera1039,281,288 - 39,333,715 (+)RGD
HuRef1039,804,351 - 39,856,723 (+)RGD
CHM1_11043,317,039 - 43,369,460 (+)NCBI
T2T-CHM13v2.01043,660,246 - 43,712,380 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271846   ⟹   XP_005271903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,834,937 (+)NCBI
GRCh371043,277,954 - 43,330,385 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540402   ⟹   XP_011538704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,834,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426040   ⟹   XP_047281996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,834,937 (+)NCBI
RefSeq Acc Id: XM_047426041   ⟹   XP_047281997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,823,768 (+)NCBI
RefSeq Acc Id: XM_047426042   ⟹   XP_047281998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,820,688 (+)NCBI
RefSeq Acc Id: XM_047426043   ⟹   XP_047281999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,820,356 (+)NCBI
RefSeq Acc Id: XM_054367246   ⟹   XP_054223221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01043,660,239 - 43,712,380 (+)NCBI
RefSeq Acc Id: XM_054367247   ⟹   XP_054223222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01043,660,231 - 43,712,380 (+)NCBI
RefSeq Acc Id: XM_054367248   ⟹   XP_054223223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01043,660,248 - 43,712,380 (+)NCBI
RefSeq Acc Id: XM_054367249   ⟹   XP_054223224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01043,660,248 - 43,701,214 (+)NCBI
RefSeq Acc Id: XM_054367250   ⟹   XP_054223225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01043,660,248 - 43,698,134 (+)NCBI
RefSeq Acc Id: XM_054367251   ⟹   XP_054223226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01043,660,248 - 43,697,802 (+)NCBI
RefSeq Acc Id: XR_007062019
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,820,600 (+)NCBI
RefSeq Acc Id: XR_008488313
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01043,660,248 - 43,698,046 (+)NCBI
RefSeq Acc Id: NP_055568   ⟸   NM_014753
- UniProtKB: Q14692 (UniProtKB/Swiss-Prot),   Q5QPT5 (UniProtKB/Swiss-Prot),   Q86XJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005271903   ⟸   XM_005271846
- Peptide Label: isoform X1
- UniProtKB: Q14692 (UniProtKB/Swiss-Prot),   Q5QPT5 (UniProtKB/Swiss-Prot),   Q86XJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538704   ⟸   XM_011540402
- Peptide Label: isoform X1
- UniProtKB: Q14692 (UniProtKB/Swiss-Prot),   Q5QPT5 (UniProtKB/Swiss-Prot),   Q86XJ9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000363642   ⟸   ENST00000374518
RefSeq Acc Id: XP_047281996   ⟸   XM_047426040
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047281997   ⟸   XM_047426041
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047281998   ⟸   XM_047426042
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047281999   ⟸   XM_047426043
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054223222   ⟸   XM_054367247
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223221   ⟸   XM_054367246
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223223   ⟸   XM_054367248
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054223224   ⟸   XM_054367249
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054223225   ⟸   XM_054367250
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054223226   ⟸   XM_054367251
- Peptide Label: isoform X5
Protein Domains
Bms1-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14692-F1-model_v2 AlphaFold Q14692 1-1282 view protein structure

Promoters
RGD ID:6787382
Promoter ID:HG_KWN:9230
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014753
Position:
Human AssemblyChrPosition (strand)Source
Build 361042,597,986 - 42,598,486 (+)MPROMDB
RGD ID:7217381
Promoter ID:EPDNEW_H14437
Type:initiation region
Name:BMS1_1
Description:BMS1, ribosome biogenesis factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381042,782,795 - 42,782,855EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23505 AgrOrtholog
COSMIC BMS1 COSMIC
Ensembl Genes ENSG00000165733 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374518 ENTREZGENE
  ENST00000374518.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000165733 GTEx
HGNC ID HGNC:23505 ENTREZGENE
Human Proteome Map BMS1 Human Proteome Map
InterPro AARP2CN UniProtKB/Swiss-Prot
  Bms1/Tsr1 UniProtKB/Swiss-Prot
  Bms1_N UniProtKB/Swiss-Prot
  BMS1_TSR1_C UniProtKB/Swiss-Prot
  G_Bms1/Tsr1_dom UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:9790 UniProtKB/Swiss-Prot
NCBI Gene 9790 ENTREZGENE
OMIM 611448 OMIM
PANTHER PTHR12858 UniProtKB/Swiss-Prot
  RIBOSOME BIOGENESIS PROTEIN BMS1 HOMOLOG UniProtKB/Swiss-Prot
Pfam AARP2CN UniProtKB/Swiss-Prot
  RIBIOP_C UniProtKB/Swiss-Prot
PharmGKB PA162377556 PharmGKB
PROSITE G_BMS1 UniProtKB/Swiss-Prot
SMART AARP2CN UniProtKB/Swiss-Prot
  DUF663 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt BMS1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5QPT5 ENTREZGENE
  Q86XJ9 ENTREZGENE
UniProt Secondary Q5QPT5 UniProtKB/Swiss-Prot
  Q86XJ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 BMS1  BMS1 ribosome biogenesis factor  BMS1  BMS1, ribosome biogenesis factor  Symbol and/or name change 5135510 APPROVED
2015-12-01 BMS1  BMS1, ribosome biogenesis factor  BMS1  BMS1 ribosome biogenesis factor  Symbol and/or name change 5135510 APPROVED
2013-08-20 BMS1  BMS1 ribosome biogenesis factor  BMS1  BMS1 homolog, ribosome assembly protein (yeast)  Symbol and/or name change 5135510 APPROVED