BMPER (BMP binding endothelial regulator) - Rat Genome Database

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Gene: BMPER (BMP binding endothelial regulator) Homo sapiens
Analyze
Symbol: BMPER
Name: BMP binding endothelial regulator
RGD ID: 1604514
HGNC Page HGNC
Description: Involved in several processes, including blood vessel endothelial cell proliferation involved in sprouting angiogenesis; positive regulation of ERK1 and ERK2 cascade; and positive regulation of sprouting angiogenesis. Located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMP-binding endothelial regulator precursor protein; BMP-binding endothelial regulator protein; bone morphogenetic protein-binding endothelial cell precursor-derived regulator; CRIM3; crossveinless 2; crossveinless-2; CV-2; CV2; hCV2
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl733,904,308 - 34,156,427 (+)EnsemblGRCh38hg38GRCh38
GRCh38733,904,915 - 34,156,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37733,944,527 - 34,196,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36733,911,048 - 34,162,009 (+)NCBINCBI36hg18NCBI36
Celera733,926,362 - 34,175,842 (+)NCBI
Cytogenetic Map7p14.3NCBI
HuRef733,824,354 - 34,076,851 (+)NCBIHuRef
CHM1_1733,944,099 - 34,195,741 (+)NCBICHM1_1
CRA_TCAGchr7v2733,988,876 - 34,239,892 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-nitropyrene  (EXP)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
arsane  (EXP)
arsenic atom  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diazinon  (ISO)
dichloroacetic acid  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
folic acid  (ISO)
fonofos  (EXP)
furan  (ISO)
gentamycin  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
methotrexate  (ISO)
nickel sulfate  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
parathion  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
terbufos  (EXP)
testosterone  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
zaragozic acid A  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11853319   PMID:12477932   PMID:12690205   PMID:12897139   PMID:14702039   PMID:14766204   PMID:15489334   PMID:16344560   PMID:18787191   PMID:20869035   PMID:21873635   PMID:21990102  
PMID:22020334   PMID:22474252   PMID:22772758   PMID:22778264   PMID:23641068   PMID:24770881   PMID:25503991   PMID:26264461   PMID:26467725   PMID:27995357   PMID:28124060   PMID:29518774  
PMID:30006055   PMID:30125619   PMID:30800678   PMID:32309430   PMID:33130958   PMID:33961781  


Genomics

Comparative Map Data
BMPER
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl733,904,308 - 34,156,427 (+)EnsemblGRCh38hg38GRCh38
GRCh38733,904,915 - 34,156,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37733,944,527 - 34,196,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36733,911,048 - 34,162,009 (+)NCBINCBI36hg18NCBI36
Celera733,926,362 - 34,175,842 (+)NCBI
Cytogenetic Map7p14.3NCBI
HuRef733,824,354 - 34,076,851 (+)NCBIHuRef
CHM1_1733,944,099 - 34,195,741 (+)NCBICHM1_1
CRA_TCAGchr7v2733,988,876 - 34,239,892 (+)NCBI
Bmper
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39923,134,372 - 23,396,511 (+)NCBIGRCm39mm39
GRCm39 Ensembl923,134,372 - 23,396,496 (+)Ensembl
GRCm38923,223,076 - 23,485,215 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl923,223,076 - 23,485,200 (+)EnsemblGRCm38mm10GRCm38
MGSCv37923,027,520 - 23,289,646 (+)NCBIGRCm37mm9NCBIm37
MGSCv36922,973,478 - 23,235,604 (+)NCBImm8
Celera920,484,051 - 20,745,958 (+)NCBICelera
Cytogenetic Map9A3NCBI
Bmper
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2821,732,225 - 21,977,261 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl821,732,225 - 21,977,256 (+)Ensembl
Rnor_6.0824,369,916 - 24,615,484 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl824,369,916 - 24,615,479 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0824,409,998 - 24,655,253 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4822,975,570 - 23,096,066 (+)NCBIRGSC3.4rn4RGSC3.4
Celera823,311,494 - 23,555,945 (+)NCBICelera
Cytogenetic Map8q13NCBI
BMPER
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1734,903,178 - 35,152,110 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl734,903,178 - 35,152,110 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0734,508,583 - 34,759,860 (+)NCBIMhudiblu_PPA_v0panPan3
BMPER
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11445,910,634 - 46,154,922 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1445,910,739 - 46,153,501 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1445,346,415 - 45,596,871 (+)NCBI
ROS_Cfam_1.01445,846,768 - 46,092,065 (+)NCBI
ROS_Cfam_1.0 Ensembl1445,846,476 - 46,092,065 (+)Ensembl
UMICH_Zoey_3.11445,953,080 - 46,196,685 (+)NCBI
UNSW_CanFamBas_1.01445,632,493 - 45,876,468 (+)NCBI
UU_Cfam_GSD_1.01446,006,152 - 46,250,841 (+)NCBI
Bmper
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511890,493,879 - 90,846,200 (+)NCBI
SpeTri2.0NW_0049364789,705,634 - 9,941,382 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMPER
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1839,412,838 - 39,950,737 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11839,417,830 - 39,664,010 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21843,216,784 - 43,461,673 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BMPER
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12124,255,857 - 24,500,790 (-)NCBIChlSab1.1chlSab2
ChlSab1.12124,255,857 - 24,500,790 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2124,255,866 - 24,500,720 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604280,155,605 - 80,400,846 (-)NCBIVero_WHO_p1.0
Bmper
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477619,159,906 - 19,462,607 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D7S683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37734,097,277 - 34,097,536UniSTSGRCh37
Build 36734,063,802 - 34,064,061RGDNCBI36
Celera734,078,973 - 34,079,232RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,978,593 - 33,978,856UniSTS
CRA_TCAGchr7v2734,141,638 - 34,141,897UniSTS
Marshfield Genetic Map752.7UniSTS
Marshfield Genetic Map752.7RGD
Genethon Genetic Map753.3UniSTS
GeneMap99-GB4 RH Map7160.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7529.2UniSTS
WI-14030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37733,973,966 - 33,974,090UniSTSGRCh37
Build 36733,940,491 - 33,940,615RGDNCBI36
Celera733,955,153 - 33,955,277RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,854,283 - 33,854,407UniSTS
CRA_TCAGchr7v2734,018,332 - 34,018,456UniSTS
GeneMap99-GB4 RH Map7160.0UniSTS
Whitehead-RH Map7111.0UniSTS
NCBI RH Map7529.2UniSTS
RH79923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37733,972,937 - 33,973,173UniSTSGRCh37
Build 36733,939,462 - 33,939,698RGDNCBI36
Celera733,954,124 - 33,954,360RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,853,253 - 33,853,490UniSTS
CRA_TCAGchr7v2734,017,303 - 34,017,539UniSTS
GeneMap99-GB4 RH Map7155.8UniSTS
RH123180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37734,061,995 - 34,062,316UniSTSGRCh37
Build 36734,028,520 - 34,028,841RGDNCBI36
Celera734,043,694 - 34,044,015RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,942,305 - 33,942,626UniSTS
CRA_TCAGchr7v2734,106,356 - 34,106,677UniSTS
TNG Radiation Hybrid Map716671.0UniSTS
SHGC-142745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37733,971,594 - 33,971,867UniSTSGRCh37
Build 36733,938,119 - 33,938,392RGDNCBI36
Celera733,952,781 - 33,953,054RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,851,910 - 33,852,183UniSTS
CRA_TCAGchr7v2734,015,960 - 34,016,233UniSTS
TNG Radiation Hybrid Map716706.0UniSTS
SHGC-3490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37734,097,420 - 34,097,541UniSTSGRCh37
Build 36734,063,945 - 34,064,066RGDNCBI36
Celera734,079,116 - 34,079,237RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,978,736 - 33,978,861UniSTS
CRA_TCAGchr7v2734,141,781 - 34,141,902UniSTS
TNG Radiation Hybrid Map716649.0UniSTS
SHGC-172305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37734,065,111 - 34,065,422UniSTSGRCh37
Build 36734,031,636 - 34,031,947RGDNCBI36
Celera734,046,810 - 34,047,121RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,945,400 - 33,945,711UniSTS
CRA_TCAGchr7v2734,109,472 - 34,109,783UniSTS
TNG Radiation Hybrid Map716668.0UniSTS
D7S1421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37734,089,766 - 34,089,901UniSTSGRCh37
Build 36734,056,291 - 34,056,426RGDNCBI36
Celera734,071,462 - 34,071,597RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,971,080 - 33,971,215UniSTS
CRA_TCAGchr7v2734,134,125 - 34,134,260UniSTS
RH48328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37734,193,845 - 34,193,972UniSTSGRCh37
Build 36734,160,370 - 34,160,497RGDNCBI36
Celera734,175,575 - 34,175,702RGD
Cytogenetic Map7p14.3UniSTS
HuRef734,075,212 - 34,075,339UniSTS
CRA_TCAGchr7v2734,238,253 - 34,238,380UniSTS
GeneMap99-GB4 RH Map7157.07UniSTS
NCBI RH Map7529.2UniSTS
G16044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37733,984,387 - 33,984,586UniSTSGRCh37
Build 36733,950,912 - 33,951,111RGDNCBI36
Celera733,965,574 - 33,965,773RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,864,704 - 33,864,903UniSTS
CRA_TCAGchr7v2734,028,753 - 34,028,952UniSTS
D7S2373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37733,950,486 - 33,950,613UniSTSGRCh37
Build 36733,917,011 - 33,917,138RGDNCBI36
Celera733,931,664 - 33,931,791RGD
Cytogenetic Map7p14.3UniSTS
HuRef733,830,792 - 33,830,919UniSTS
CRA_TCAGchr7v2733,994,842 - 33,994,969UniSTS
Whitehead-RH Map7111.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7529.2UniSTS
BMPER  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37734,125,527 - 34,125,681UniSTSGRCh37
Celera734,107,219 - 34,107,373UniSTS
HuRef734,006,863 - 34,007,017UniSTS
CRA_TCAGchr7v2734,169,897 - 34,170,051UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2768
Count of miRNA genes:1120
Interacting mature miRNAs:1373
Transcripts:ENST00000297161, ENST00000426693, ENST00000436222, ENST00000444773, ENST00000448280, ENST00000476525, ENST00000494786, ENST00000496609
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 89 17 13 9 7 9 53 17 236 24 69 267 1 36 30 1
Low 2102 1660 1165 400 300 337 3060 1738 3175 102 1202 971 68 1158 2171 1
Below cutoff 164 988 505 176 765 80 1215 434 301 263 143 318 102 1 10 587 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297161   ⟹   ENSP00000297161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,904,911 - 34,155,872 (+)Ensembl
RefSeq Acc Id: ENST00000436222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,904,308 - 34,046,374 (+)Ensembl
RefSeq Acc Id: ENST00000444773   ⟹   ENSP00000409998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,539 - 33,966,561 (+)Ensembl
RefSeq Acc Id: ENST00000448280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,904,911 - 33,922,028 (+)Ensembl
RefSeq Acc Id: ENST00000476525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl734,067,232 - 34,153,098 (+)Ensembl
RefSeq Acc Id: ENST00000494786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl734,042,676 - 34,055,209 (+)Ensembl
RefSeq Acc Id: ENST00000496609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,503 - 33,937,560 (+)Ensembl
RefSeq Acc Id: ENST00000647656   ⟹   ENSP00000497346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,563 - 34,154,400 (+)Ensembl
RefSeq Acc Id: ENST00000647703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl734,019,855 - 34,154,486 (+)Ensembl
RefSeq Acc Id: ENST00000648229   ⟹   ENSP00000498201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,522 - 34,154,451 (+)Ensembl
RefSeq Acc Id: ENST00000648305   ⟹   ENSP00000497365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,558 - 34,154,460 (+)Ensembl
RefSeq Acc Id: ENST00000648320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,977,087 - 34,154,489 (+)Ensembl
RefSeq Acc Id: ENST00000648392   ⟹   ENSP00000497488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,539 - 34,154,525 (+)Ensembl
RefSeq Acc Id: ENST00000648445   ⟹   ENSP00000498008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,584 - 34,154,465 (+)Ensembl
RefSeq Acc Id: ENST00000648618   ⟹   ENSP00000496953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,533 - 34,153,909 (+)Ensembl
RefSeq Acc Id: ENST00000648848   ⟹   ENSP00000497963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,545 - 34,154,406 (+)Ensembl
RefSeq Acc Id: ENST00000648856   ⟹   ENSP00000496854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,817 - 34,154,475 (+)Ensembl
RefSeq Acc Id: ENST00000648982   ⟹   ENSP00000498182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,906,882 - 34,156,356 (+)Ensembl
RefSeq Acc Id: ENST00000649002   ⟹   ENSP00000496926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,539 - 34,154,470 (+)Ensembl
RefSeq Acc Id: ENST00000649232   ⟹   ENSP00000497721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,906,871 - 34,153,410 (+)Ensembl
RefSeq Acc Id: ENST00000649409   ⟹   ENSP00000497748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,539 - 34,156,427 (+)Ensembl
RefSeq Acc Id: ENST00000649771   ⟹   ENSP00000497314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,906,247 - 34,154,019 (+)Ensembl
RefSeq Acc Id: ENST00000649985   ⟹   ENSP00000497578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,910 - 34,154,525 (+)Ensembl
RefSeq Acc Id: ENST00000650202   ⟹   ENSP00000497972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,897 - 34,154,489 (+)Ensembl
RefSeq Acc Id: ENST00000650206   ⟹   ENSP00000497637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,586 - 34,156,347 (+)Ensembl
RefSeq Acc Id: ENST00000650350   ⟹   ENSP00000497933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,671 - 34,154,682 (+)Ensembl
RefSeq Acc Id: ENST00000650533   ⟹   ENSP00000497081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,906 - 34,154,476 (+)Ensembl
RefSeq Acc Id: ENST00000650544   ⟹   ENSP00000497982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl733,905,539 - 34,154,458 (+)Ensembl
RefSeq Acc Id: NM_001365308   ⟹   NP_001352237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,905,539 - 34,156,427 (+)NCBI
Sequence:
RefSeq Acc Id: NM_133468   ⟹   NP_597725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,904,915 - 34,156,427 (+)NCBI
GRCh37733,944,523 - 34,195,484 (+)NCBI
Build 36733,911,048 - 34,162,009 (+)NCBI Archive
Celera733,926,362 - 34,175,842 (+)RGD
HuRef733,824,354 - 34,076,851 (+)NCBI
CHM1_1733,944,099 - 34,195,741 (+)NCBI
CRA_TCAGchr7v2733,988,876 - 34,239,892 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005249633   ⟹   XP_005249690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,905,503 - 34,154,580 (+)NCBI
GRCh37733,944,523 - 34,195,484 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011800   ⟹   XP_016867289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,905,503 - 34,154,580 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011801   ⟹   XP_016867290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,905,503 - 34,154,580 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_597725   ⟸   NM_133468
- Peptide Label: precursor
- UniProtKB: Q8N8U9 (UniProtKB/Swiss-Prot),   A0A090N7U6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249690   ⟸   XM_005249633
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016867289   ⟸   XM_017011800
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016867290   ⟸   XM_017011801
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001352237   ⟸   NM_001365308
- Peptide Label: precursor
RefSeq Acc Id: ENSP00000498201   ⟸   ENST00000648229
RefSeq Acc Id: ENSP00000496953   ⟸   ENST00000648618
RefSeq Acc Id: ENSP00000498008   ⟸   ENST00000648445
RefSeq Acc Id: ENSP00000497488   ⟸   ENST00000648392
RefSeq Acc Id: ENSP00000497365   ⟸   ENST00000648305
RefSeq Acc Id: ENSP00000498182   ⟸   ENST00000648982
RefSeq Acc Id: ENSP00000497963   ⟸   ENST00000648848
RefSeq Acc Id: ENSP00000496854   ⟸   ENST00000648856
RefSeq Acc Id: ENSP00000497748   ⟸   ENST00000649409
RefSeq Acc Id: ENSP00000497721   ⟸   ENST00000649232
RefSeq Acc Id: ENSP00000497578   ⟸   ENST00000649985
RefSeq Acc Id: ENSP00000497314   ⟸   ENST00000649771
RefSeq Acc Id: ENSP00000496926   ⟸   ENST00000649002
RefSeq Acc Id: ENSP00000497081   ⟸   ENST00000650533
RefSeq Acc Id: ENSP00000497982   ⟸   ENST00000650544
RefSeq Acc Id: ENSP00000497933   ⟸   ENST00000650350
RefSeq Acc Id: ENSP00000497972   ⟸   ENST00000650202
RefSeq Acc Id: ENSP00000497637   ⟸   ENST00000650206
RefSeq Acc Id: ENSP00000297161   ⟸   ENST00000297161
RefSeq Acc Id: ENSP00000409998   ⟸   ENST00000444773
RefSeq Acc Id: ENSP00000497346   ⟸   ENST00000647656
Protein Domains
TIL   VWFC   VWFD

Promoters
RGD ID:7210353
Promoter ID:EPDNEW_H10921
Type:initiation region
Name:BMPER_2
Description:BMP binding endothelial regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10922  EPDNEW_H10923  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,904,545 - 33,904,605EPDNEW
RGD ID:7210351
Promoter ID:EPDNEW_H10922
Type:initiation region
Name:BMPER_3
Description:BMP binding endothelial regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10921  EPDNEW_H10923  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,904,915 - 33,904,975EPDNEW
RGD ID:7210363
Promoter ID:EPDNEW_H10923
Type:initiation region
Name:BMPER_1
Description:BMP binding endothelial regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10922  EPDNEW_H10921  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38733,905,539 - 33,905,599EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001365308.1(BMPER):c.26_35delinsAGACCAGAGCGGCG (p.Ala9fs) indel Diaphanospondylodysostosis [RCV000023722] Chr7:33905639..33905648 [GRCh38]
Chr7:33945251..33945260 [GRCh37]
Chr7:7p14.3
pathogenic
NM_001365308.1(BMPER):c.1078+5G>A single nucleotide variant Diaphanospondylodysostosis [RCV000023723] Chr7:34062052 [GRCh38]
Chr7:34101664 [GRCh37]
Chr7:7p14.3
pathogenic
NM_001365308.1(BMPER):c.925C>T (p.Gln309Ter) single nucleotide variant Diaphanospondylodysostosis [RCV000023721] Chr7:34055301 [GRCh38]
Chr7:34094913 [GRCh37]
Chr7:7p14.3
pathogenic
NM_001365308.1(BMPER):c.1109C>T (p.Pro370Leu) single nucleotide variant Diaphanospondylodysostosis [RCV000023724] Chr7:34078887 [GRCh38]
Chr7:34118499 [GRCh37]
Chr7:7p14.3
pathogenic
NM_001365308.1(BMPER):c.1638T>A (p.Cys546Ter) single nucleotide variant Diaphanospondylodysostosis [RCV000023725] Chr7:34085985 [GRCh38]
Chr7:34125597 [GRCh37]
Chr7:7p14.3
pathogenic
NM_133468.4(BMPER):c.576+27209C>T single nucleotide variant Lung cancer [RCV000106001] Chr7:34001993 [GRCh38]
Chr7:34041605 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.4(BMPER):c.1877-3456G>T single nucleotide variant Lung cancer [RCV000106002] Chr7:34149636 [GRCh38]
Chr7:34189248 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 copy number gain See cases [RCV000051178] Chr7:30420933..34560665 [GRCh38]
Chr7:30460549..34600277 [GRCh37]
Chr7:30427074..34566802 [NCBI36]
Chr7:7p14.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
NM_133468.4(BMPER):c.760G>A (p.Asp254Asn) single nucleotide variant Malignant melanoma [RCV000067853] Chr7:34051944 [GRCh38]
Chr7:34091556 [GRCh37]
Chr7:34058081 [NCBI36]
Chr7:7p14.3
not provided
NM_133468.4(BMPER):c.880C>T (p.Pro294Ser) single nucleotide variant Malignant melanoma [RCV000067854] Chr7:34055256 [GRCh38]
Chr7:34094868 [GRCh37]
Chr7:34061393 [NCBI36]
Chr7:7p14.3
not provided
NM_133468.4(BMPER):c.1042C>T (p.Leu348Phe) single nucleotide variant Malignant melanoma [RCV000067855] Chr7:34062011 [GRCh38]
Chr7:34101623 [GRCh37]
Chr7:34068148 [NCBI36]
Chr7:7p14.3
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1 copy number loss See cases [RCV000140283] Chr7:32678391..41044983 [GRCh38]
Chr7:32718003..41084581 [GRCh37]
Chr7:32684528..41051106 [NCBI36]
Chr7:7p14.3-14.1
pathogenic
GRCh38/hg38 7p14.3(chr7:33733356-34433006)x1 copy number loss See cases [RCV000142048] Chr7:33733356..34433006 [GRCh38]
Chr7:33772968..34472618 [GRCh37]
Chr7:33739493..34439143 [NCBI36]
Chr7:7p14.3
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001365308.1(BMPER):c.857G>T (p.Cys286Phe) single nucleotide variant Diaphanospondylodysostosis [RCV000273713] Chr7:34055233 [GRCh38]
Chr7:34094845 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*2218C>T single nucleotide variant Diaphanospondylodysostosis [RCV000374105] Chr7:34155491 [GRCh38]
Chr7:34195103 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.*126_*127TA[7] microsatellite Diaphanospondylodysostosis [RCV000301483]|not provided [RCV001672694] Chr7:34153398..34153399 [GRCh38]
Chr7:34193010..34193011 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.*52C>T single nucleotide variant Diaphanospondylodysostosis [RCV000369070] Chr7:34153325 [GRCh38]
Chr7:34192937 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*278T>C single nucleotide variant Diaphanospondylodysostosis [RCV000352951] Chr7:34153551 [GRCh38]
Chr7:34193163 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.*617G>A single nucleotide variant Diaphanospondylodysostosis [RCV000322329] Chr7:34153890 [GRCh38]
Chr7:34193502 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*522G>A single nucleotide variant Diaphanospondylodysostosis [RCV000322646] Chr7:34153795 [GRCh38]
Chr7:34193407 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.*1424A>G single nucleotide variant Diaphanospondylodysostosis [RCV000397148] Chr7:34154697 [GRCh38]
Chr7:34194309 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-313G>C single nucleotide variant Diaphanospondylodysostosis [RCV000269501] Chr7:33904972 [GRCh38]
Chr7:33944584 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.474G>A (p.Met158Ile) single nucleotide variant Diaphanospondylodysostosis [RCV000269906]|not provided [RCV000954106] Chr7:33970400 [GRCh38]
Chr7:34010012 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.133+9G>C single nucleotide variant Diaphanospondylodysostosis [RCV000302098]|not provided [RCV000965748] Chr7:33905755 [GRCh38]
Chr7:33945367 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.1460C>T (p.Pro487Leu) single nucleotide variant Diaphanospondylodysostosis [RCV000287043] Chr7:34085807 [GRCh38]
Chr7:34125419 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*678G>T single nucleotide variant Diaphanospondylodysostosis [RCV000325709] Chr7:34153951 [GRCh38]
Chr7:34193563 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.1086C>T (p.Gly362=) single nucleotide variant Diaphanospondylodysostosis [RCV000374039]|not provided [RCV000956474] Chr7:34078864 [GRCh38]
Chr7:34118476 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.*1554A>C single nucleotide variant Diaphanospondylodysostosis [RCV000271431] Chr7:34154827 [GRCh38]
Chr7:34194439 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-263G>A single nucleotide variant Diaphanospondylodysostosis [RCV000326780] Chr7:33905022 [GRCh38]
Chr7:33944634 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.372G>A (p.Pro124=) single nucleotide variant Diaphanospondylodysostosis [RCV000404380] Chr7:33966531 [GRCh38]
Chr7:34006143 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1935G>C (p.Thr645=) single nucleotide variant Diaphanospondylodysostosis [RCV000351472]|not provided [RCV001672693] Chr7:34153150 [GRCh38]
Chr7:34192762 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp) single nucleotide variant Diaphanospondylodysostosis [RCV000377778]|not provided [RCV000892440] Chr7:34086010 [GRCh38]
Chr7:34125622 [GRCh37]
Chr7:7p14.3
benign|likely benign|uncertain significance
NM_001365308.1(BMPER):c.1461G>T (p.Pro487=) single nucleotide variant Diaphanospondylodysostosis [RCV000339558]|not provided [RCV001636992] Chr7:34085808 [GRCh38]
Chr7:34125420 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.254C>T (p.Pro85Leu) single nucleotide variant Diaphanospondylodysostosis [RCV000340538] Chr7:33937323 [GRCh38]
Chr7:33976935 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1262C>T single nucleotide variant Diaphanospondylodysostosis [RCV000406200] Chr7:34154535 [GRCh38]
Chr7:34194147 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1818C>A (p.Thr606=) single nucleotide variant Diaphanospondylodysostosis [RCV000406429] Chr7:34143302 [GRCh38]
Chr7:34182914 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1724T>C (p.Val575Ala) single nucleotide variant Diaphanospondylodysostosis [RCV000290436] Chr7:34086071 [GRCh38]
Chr7:34125683 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1927A>T (p.Ile643Phe) single nucleotide variant Diaphanospondylodysostosis [RCV000308375] Chr7:34153142 [GRCh38]
Chr7:34192754 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1067C>T single nucleotide variant Diaphanospondylodysostosis [RCV000352507] Chr7:34154340 [GRCh38]
Chr7:34193952 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1323C>T (p.Asn441=) single nucleotide variant Diaphanospondylodysostosis [RCV000379073] Chr7:34079101 [GRCh38]
Chr7:34118713 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.408C>T (p.Gly136=) single nucleotide variant Diaphanospondylodysostosis [RCV000362137]|not provided [RCV001712760] Chr7:33970334 [GRCh38]
Chr7:34009946 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.*677C>T single nucleotide variant Diaphanospondylodysostosis [RCV000383894] Chr7:34153950 [GRCh38]
Chr7:34193562 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*564T>C single nucleotide variant Diaphanospondylodysostosis [RCV000379651] Chr7:34153837 [GRCh38]
Chr7:34193449 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*678G>A single nucleotide variant Diaphanospondylodysostosis [RCV000291886] Chr7:34153951 [GRCh38]
Chr7:34193563 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1703C>T single nucleotide variant Diaphanospondylodysostosis [RCV000362640] Chr7:34154976 [GRCh38]
Chr7:34194588 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.1207G>A (p.Val403Met) single nucleotide variant Diaphanospondylodysostosis [RCV000260010] Chr7:34078985 [GRCh38]
Chr7:34118597 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*384T>G single nucleotide variant Diaphanospondylodysostosis [RCV000260410] Chr7:34153657 [GRCh38]
Chr7:34193269 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.*1163C>T single nucleotide variant Diaphanospondylodysostosis [RCV000293939] Chr7:34154436 [GRCh38]
Chr7:34194048 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
NM_001365308.1(BMPER):c.*11G>A single nucleotide variant Diaphanospondylodysostosis [RCV000311989] Chr7:34153284 [GRCh38]
Chr7:34192896 [GRCh37]
Chr7:7p14.3
benign|uncertain significance
NM_001365308.1(BMPER):c.*704A>G single nucleotide variant Diaphanospondylodysostosis [RCV000382688] Chr7:34153977 [GRCh38]
Chr7:34193589 [GRCh37]
Chr7:7p14.3
benign
NM_133468.5(BMPER):c.-230G>A single nucleotide variant Diaphanospondylodysostosis [RCV000388388] Chr7:33905055 [GRCh38]
Chr7:33944667 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.580G>A (p.Gly194Ser) single nucleotide variant Diaphanospondylodysostosis [RCV000313364]|not provided [RCV001636991] Chr7:34046309 [GRCh38]
Chr7:34085921 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_133468.5(BMPER):c.-362C>A single nucleotide variant Diaphanospondylodysostosis [RCV000366412] Chr7:33904923 [GRCh38]
Chr7:33944535 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
NM_001365308.1(BMPER):c.*1217A>G single nucleotide variant Diaphanospondylodysostosis [RCV000337257] Chr7:34154490 [GRCh38]
Chr7:34194102 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1797C>T (p.Cys599=) single nucleotide variant Diaphanospondylodysostosis [RCV000347780]|not provided [RCV000882005] Chr7:34143281 [GRCh38]
Chr7:34182893 [GRCh37]
Chr7:7p14.3
benign|likely benign|uncertain significance
NM_133468.5(BMPER):c.-211G>A single nucleotide variant Diaphanospondylodysostosis [RCV000296299] Chr7:33905074 [GRCh38]
Chr7:33944686 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_133468.5(BMPER):c.-141+4A>G single nucleotide variant Diaphanospondylodysostosis [RCV000338207] Chr7:33905148 [GRCh38]
Chr7:33944760 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.*2067A>T single nucleotide variant Diaphanospondylodysostosis [RCV000388872] Chr7:34155340 [GRCh38]
Chr7:34194952 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.774T>G (p.Ala258=) single nucleotide variant Diaphanospondylodysostosis [RCV000370390] Chr7:34051958 [GRCh38]
Chr7:34091570 [GRCh37]
Chr7:7p14.3
benign|uncertain significance
NM_001365308.1(BMPER):c.*609G>A single nucleotide variant Diaphanospondylodysostosis [RCV000264935] Chr7:34153882 [GRCh38]
Chr7:34193494 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1396A>G single nucleotide variant Diaphanospondylodysostosis [RCV000298417] Chr7:34154669 [GRCh38]
Chr7:34194281 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile) single nucleotide variant Diaphanospondylodysostosis [RCV000390626] Chr7:34153193 [GRCh38]
Chr7:34192805 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1248G>A (p.Ser416=) single nucleotide variant Diaphanospondylodysostosis [RCV000317601] Chr7:34079026 [GRCh38]
Chr7:34118638 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.-25C>A single nucleotide variant Diaphanospondylodysostosis [RCV000341542] Chr7:33905589 [GRCh38]
Chr7:33945201 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001365308.1(BMPER):c.*1878C>G single nucleotide variant Diaphanospondylodysostosis [RCV000269833] Chr7:34155151 [GRCh38]
Chr7:34194763 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-160G>A single nucleotide variant Diaphanospondylodysostosis [RCV000281078] Chr7:33905125 [GRCh38]
Chr7:33944737 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*2277T>G single nucleotide variant Diaphanospondylodysostosis [RCV000281860] Chr7:34155550 [GRCh38]
Chr7:34195162 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*123_*128del deletion Diaphanospondylodysostosis [RCV000262724] Chr7:34153393..34153398 [GRCh38]
Chr7:34193005..34193010 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-108G>A single nucleotide variant Diaphanospondylodysostosis [RCV000279554] Chr7:33905506 [GRCh38]
Chr7:33945118 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-192G>A single nucleotide variant Diaphanospondylodysostosis [RCV000330184] Chr7:33905093 [GRCh38]
Chr7:33944705 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1003C>A (p.Gln335Lys) single nucleotide variant Diaphanospondylodysostosis [RCV000331131] Chr7:34058134 [GRCh38]
Chr7:34097746 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*2170A>G single nucleotide variant Diaphanospondylodysostosis [RCV000331171] Chr7:34155443 [GRCh38]
Chr7:34195055 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*2100C>A single nucleotide variant Diaphanospondylodysostosis [RCV000292586] Chr7:34155373 [GRCh38]
Chr7:34194985 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1929dup duplication Diaphanospondylodysostosis [RCV000331954] Chr7:34155198..34155199 [GRCh38]
Chr7:34194810..34194811 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.115G>T (p.Ala39Ser) single nucleotide variant Diaphanospondylodysostosis [RCV000404026] Chr7:33905728 [GRCh38]
Chr7:33945340 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*767C>T single nucleotide variant Diaphanospondylodysostosis [RCV000295339] Chr7:34154040 [GRCh38]
Chr7:34193652 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-190C>T single nucleotide variant Diaphanospondylodysostosis [RCV000387139] Chr7:33905095 [GRCh38]
Chr7:33944707 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1071A>G single nucleotide variant Diaphanospondylodysostosis [RCV000406814] Chr7:34154344 [GRCh38]
Chr7:34193956 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-141+9T>A single nucleotide variant Diaphanospondylodysostosis [RCV000371897] Chr7:33905153 [GRCh38]
Chr7:33944765 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.406G>A (p.Gly136Ser) single nucleotide variant Diaphanospondylodysostosis [RCV000309799] Chr7:33970332 [GRCh38]
Chr7:34009944 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1484del deletion Diaphanospondylodysostosis [RCV000359197] Chr7:34154757 [GRCh38]
Chr7:34194369 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1411G>A single nucleotide variant Diaphanospondylodysostosis [RCV000360173] Chr7:34154684 [GRCh38]
Chr7:34194296 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1482_*1483del deletion Diaphanospondylodysostosis [RCV000301882] Chr7:34154740..34154741 [GRCh38]
Chr7:34194352..34194353 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1667G>C single nucleotide variant Diaphanospondylodysostosis [RCV000328987] Chr7:34154940 [GRCh38]
Chr7:34194552 [GRCh37]
Chr7:7p14.3
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13
pathogenic
NM_001365308.1(BMPER):c.1087G>A (p.Val363Ile) single nucleotide variant Diaphanospondylodysostosis [RCV001163696]|not provided [RCV000434501] Chr7:34078865 [GRCh38]
Chr7:34118477 [GRCh37]
Chr7:7p14.3
benign|uncertain significance
GRCh37/hg19 7p14.3(chr7:33769585-34472618)x1 copy number loss See cases [RCV000448380] Chr7:33769585..34472618 [GRCh37]
Chr7:7p14.3
likely benign
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp) single nucleotide variant Diaphanospondylodysostosis [RCV001158674]|not provided [RCV000962209]|not specified [RCV000455168] Chr7:33937289 [GRCh38]
Chr7:33976901 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001365308.1(BMPER):c.134-17T>C single nucleotide variant not provided [RCV000514283] Chr7:33906801 [GRCh38]
Chr7:33946413 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.410T>A (p.Val137Asp) single nucleotide variant Diaphanospondylodysostosis [RCV000677141] Chr7:33970336 [GRCh38]
Chr7:34009948 [GRCh37]
Chr7:7p14.3
pathogenic|likely pathogenic
NM_001365308.1(BMPER):c.1115A>G (p.Tyr372Cys) single nucleotide variant Diaphanospondylodysostosis [RCV000714709] Chr7:34078893 [GRCh38]
Chr7:34118505 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 copy number gain not provided [RCV000682909] Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13
pathogenic
GRCh37/hg19 7p14.3(chr7:34086180-34959828)x1 copy number loss not provided [RCV000682871] Chr7:34086180..34959828 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001365308.1(BMPER):c.1746-167C>T single nucleotide variant not provided [RCV001724617] Chr7:34143063 [GRCh38]
Chr7:34182675 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.319+101C>T single nucleotide variant not provided [RCV001611729] Chr7:33937489 [GRCh38]
Chr7:33977101 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.787-235C>G single nucleotide variant not provided [RCV001534475] Chr7:34054928 [GRCh38]
Chr7:34094540 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.*1807C>A single nucleotide variant Diaphanospondylodysostosis [RCV001163925] Chr7:34155080 [GRCh38]
Chr7:34194692 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.816C>A (p.Cys272Ter) single nucleotide variant Diaphanospondylodysostosis [RCV000778829] Chr7:34055192 [GRCh38]
Chr7:34094804 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1920G>A (p.Pro640=) single nucleotide variant not provided [RCV000908477] Chr7:34153135 [GRCh38]
Chr7:34192747 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.417A>T (p.Thr139=) single nucleotide variant Diaphanospondylodysostosis [RCV001161887]|not provided [RCV000949519] Chr7:33970343 [GRCh38]
Chr7:34009955 [GRCh37]
Chr7:7p14.3
benign|likely benign
GRCh37/hg19 7p14.3(chr7:33914258-34015196)x4 copy number gain not provided [RCV000847125] Chr7:33914258..34015196 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_133468.5(BMPER):c.-293T>C single nucleotide variant Diaphanospondylodysostosis [RCV001165401] Chr7:33904992 [GRCh38]
Chr7:33944604 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001365308.1(BMPER):c.*516G>T single nucleotide variant Diaphanospondylodysostosis [RCV001163802] Chr7:34153789 [GRCh38]
Chr7:34193401 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1794G>A single nucleotide variant Diaphanospondylodysostosis [RCV001163924] Chr7:34155067 [GRCh38]
Chr7:34194679 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1311C>T (p.Thr437=) single nucleotide variant Diaphanospondylodysostosis [RCV001163697] Chr7:34079089 [GRCh38]
Chr7:34118701 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1457C>T (p.Ala486Val) single nucleotide variant Diaphanospondylodysostosis [RCV001163698] Chr7:34085804 [GRCh38]
Chr7:34125416 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:33868997-34247759)x1 copy number loss not provided [RCV001005931] Chr7:33868997..34247759 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.493+5C>T single nucleotide variant Diaphanospondylodysostosis [RCV001163410]|not provided [RCV001455093] Chr7:33970424 [GRCh38]
Chr7:34010036 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
NM_001365308.1(BMPER):c.664C>T (p.Pro222Ser) single nucleotide variant Diaphanospondylodysostosis [RCV001163411] Chr7:34046393 [GRCh38]
Chr7:34086005 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.2054G>A (p.Arg685Gln) single nucleotide variant Diaphanospondylodysostosis [RCV001163505] Chr7:34153269 [GRCh38]
Chr7:34192881 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1403C>T single nucleotide variant Diaphanospondylodysostosis [RCV001163606] Chr7:34154676 [GRCh38]
Chr7:34194288 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:33667313-34047534)x4 copy number gain not provided [RCV001005930] Chr7:33667313..34047534 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*658T>C single nucleotide variant Diaphanospondylodysostosis [RCV001158890] Chr7:34153931 [GRCh38]
Chr7:34193543 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.928-227AC[14] microsatellite not provided [RCV001690741] Chr7:34057831..34057832 [GRCh38]
Chr7:34097443..34097444 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1974G>A (p.Pro658=) single nucleotide variant Diaphanospondylodysostosis [RCV001160135]|not provided [RCV000974520] Chr7:34153189 [GRCh38]
Chr7:34192801 [GRCh37]
Chr7:7p14.3
benign|uncertain significance
NM_001365308.1(BMPER):c.*726C>T single nucleotide variant Diaphanospondylodysostosis [RCV001158892] Chr7:34153999 [GRCh38]
Chr7:34193611 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1963T>C (p.Cys655Arg) single nucleotide variant Diaphanospondylodysostosis [RCV001160134] Chr7:34153178 [GRCh38]
Chr7:34192790 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1745+220G>A single nucleotide variant not provided [RCV001636018] Chr7:34086312 [GRCh38]
Chr7:34125924 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1032+116T>G single nucleotide variant not provided [RCV001687107] Chr7:34058279 [GRCh38]
Chr7:34097891 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1033-37dup duplication not provided [RCV001639395] Chr7:34061950..34061951 [GRCh38]
Chr7:34101562..34101563 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1032+81G>A single nucleotide variant not provided [RCV001686594] Chr7:34058244 [GRCh38]
Chr7:34097856 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.402+222A>T single nucleotide variant not provided [RCV001686985] Chr7:33966783 [GRCh38]
Chr7:34006395 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1033-40_1033-37dup duplication not provided [RCV001598550] Chr7:34061950..34061951 [GRCh38]
Chr7:34101562..34101563 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.133+222C>T single nucleotide variant not provided [RCV001678503] Chr7:33905968 [GRCh38]
Chr7:33945580 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.787-88A>C single nucleotide variant not provided [RCV001677400] Chr7:34055075 [GRCh38]
Chr7:34094687 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.577-286C>T single nucleotide variant not provided [RCV001674912] Chr7:34046020 [GRCh38]
Chr7:34085632 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1902G>C (p.Val634=) single nucleotide variant Diaphanospondylodysostosis [RCV001160132] Chr7:34153117 [GRCh38]
Chr7:34192729 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1906G>A (p.Asp636Asn) single nucleotide variant Diaphanospondylodysostosis [RCV001160133] Chr7:34153121 [GRCh38]
Chr7:34192733 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*53G>A single nucleotide variant Diaphanospondylodysostosis [RCV001163506] Chr7:34153326 [GRCh38]
Chr7:34192938 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*111C>A single nucleotide variant Diaphanospondylodysostosis [RCV001163507] Chr7:34153384 [GRCh38]
Chr7:34192996 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*2309G>A single nucleotide variant Diaphanospondylodysostosis [RCV001158986] Chr7:34155582 [GRCh38]
Chr7:34195194 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1471G>A (p.Gly491Ser) single nucleotide variant Diaphanospondylodysostosis [RCV001158780] Chr7:34085818 [GRCh38]
Chr7:34125430 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1481G>C (p.Cys494Ser) single nucleotide variant Diaphanospondylodysostosis [RCV001158781] Chr7:34085828 [GRCh38]
Chr7:34125440 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*980T>C single nucleotide variant Diaphanospondylodysostosis [RCV001160234] Chr7:34154253 [GRCh38]
Chr7:34193865 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.319+150A>G single nucleotide variant not provided [RCV001538314] Chr7:33937538 [GRCh38]
Chr7:33977150 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.390A>C (p.Leu130=) single nucleotide variant Diaphanospondylodysostosis [RCV001161884] Chr7:33966549 [GRCh38]
Chr7:34006161 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.576+118G>A single nucleotide variant not provided [RCV001685205] Chr7:33974902 [GRCh38]
Chr7:34014514 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.402+189G>A single nucleotide variant not provided [RCV001611779] Chr7:33966750 [GRCh38]
Chr7:34006362 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.220-268C>T single nucleotide variant not provided [RCV001679628] Chr7:33937021 [GRCh38]
Chr7:33976633 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.*244C>A single nucleotide variant Diaphanospondylodysostosis [RCV001163510] Chr7:34153517 [GRCh38]
Chr7:34193129 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.391C>T (p.Arg131Cys) single nucleotide variant Diaphanospondylodysostosis [RCV001161885] Chr7:33966550 [GRCh38]
Chr7:34006162 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.403-13T>C single nucleotide variant Diaphanospondylodysostosis [RCV001161886] Chr7:33970316 [GRCh38]
Chr7:34009928 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*134T>C single nucleotide variant Diaphanospondylodysostosis [RCV001163509] Chr7:34153407 [GRCh38]
Chr7:34193019 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1605C>T single nucleotide variant Diaphanospondylodysostosis [RCV001163608] Chr7:34154878 [GRCh38]
Chr7:34194490 [GRCh37]
Chr7:7p14.3
likely benign
NM_001365308.1(BMPER):c.*267C>T single nucleotide variant Diaphanospondylodysostosis [RCV001163800] Chr7:34153540 [GRCh38]
Chr7:34193152 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.758A>G (p.Tyr253Cys) single nucleotide variant Diaphanospondylodysostosis [RCV001163412] Chr7:34051942 [GRCh38]
Chr7:34091554 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*129A>T single nucleotide variant Diaphanospondylodysostosis [RCV001163508] Chr7:34153402 [GRCh38]
Chr7:34193014 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*1596A>G single nucleotide variant Diaphanospondylodysostosis [RCV001163607] Chr7:34154869 [GRCh38]
Chr7:34194481 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.1514G>A (p.Arg505His) single nucleotide variant Diaphanospondylodysostosis [RCV001158782] Chr7:34085861 [GRCh38]
Chr7:34125473 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*699C>T single nucleotide variant Diaphanospondylodysostosis [RCV001158891] Chr7:34153972 [GRCh38]
Chr7:34193584 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*490T>C single nucleotide variant Diaphanospondylodysostosis [RCV001163801] Chr7:34153763 [GRCh38]
Chr7:34193375 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*887G>A single nucleotide variant Diaphanospondylodysostosis [RCV001160232] Chr7:34154160 [GRCh38]
Chr7:34193772 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.*975G>A single nucleotide variant Diaphanospondylodysostosis [RCV001160233] Chr7:34154248 [GRCh38]
Chr7:34193860 [GRCh37]
Chr7:7p14.3
likely benign
NM_133468.5(BMPER):c.-201G>T single nucleotide variant Diaphanospondylodysostosis [RCV001165402] Chr7:33905084 [GRCh38]
Chr7:33944696 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:33643418-34089823)x3 copy number gain See cases [RCV001194530] Chr7:33643418..34089823 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001365308.1(BMPER):c.928-227AC[12] microsatellite not provided [RCV001536198] Chr7:34057832..34057833 [GRCh38]
Chr7:34097444..34097445 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1577G>A (p.Trp526Ter) single nucleotide variant not provided [RCV001268683] Chr7:34085924 [GRCh38]
Chr7:34125536 [GRCh37]
Chr7:7p14.3
pathogenic
NM_001365308.1(BMPER):c.416C>G (p.Thr139Arg) single nucleotide variant not provided [RCV001269911] Chr7:33970342 [GRCh38]
Chr7:34009954 [GRCh37]
Chr7:7p14.3
likely pathogenic
NM_001365308.1(BMPER):c.501_502del (p.Val167_Phe168insTer) microsatellite not provided [RCV001269595] Chr7:33974704..33974705 [GRCh38]
Chr7:34014316..34014317 [GRCh37]
Chr7:7p14.3
pathogenic
NM_001365308.1(BMPER):c.942G>A (p.Trp314Ter) single nucleotide variant not provided [RCV001269912] Chr7:34058073 [GRCh38]
Chr7:34097685 [GRCh37]
Chr7:7p14.3
pathogenic
NM_001365308.1(BMPER):c.1876+162G>A single nucleotide variant not provided [RCV001710991] Chr7:34143522 [GRCh38]
Chr7:34183134 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.928-227AC[15] microsatellite not provided [RCV001716546] Chr7:34057831..34057832 [GRCh38]
Chr7:34097443..34097444 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.1877-192A>T single nucleotide variant not provided [RCV001611523] Chr7:34152900 [GRCh38]
Chr7:34192512 [GRCh37]
Chr7:7p14.3
benign
NM_001365308.1(BMPER):c.133+8A>G single nucleotide variant not provided [RCV001452438] Chr7:33905754 [GRCh38]
Chr7:33945366 [GRCh37]
Chr7:7p14.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24154 AgrOrtholog
COSMIC BMPER COSMIC
Ensembl Genes ENSG00000164619 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297161 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000409998 UniProtKB/TrEMBL
  ENSP00000496854 UniProtKB/TrEMBL
  ENSP00000496926 UniProtKB/TrEMBL
  ENSP00000496953 UniProtKB/TrEMBL
  ENSP00000497081 UniProtKB/TrEMBL
  ENSP00000497314 UniProtKB/TrEMBL
  ENSP00000497346 UniProtKB/TrEMBL
  ENSP00000497365 UniProtKB/TrEMBL
  ENSP00000497488 UniProtKB/TrEMBL
  ENSP00000497578 UniProtKB/TrEMBL
  ENSP00000497637 UniProtKB/TrEMBL
  ENSP00000497721 UniProtKB/TrEMBL
  ENSP00000497748 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497933 UniProtKB/TrEMBL
  ENSP00000497963 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497972 UniProtKB/TrEMBL
  ENSP00000497982 UniProtKB/TrEMBL
  ENSP00000498008 UniProtKB/TrEMBL
  ENSP00000498182 UniProtKB/TrEMBL
  ENSP00000498201 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297161 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000444773 UniProtKB/TrEMBL
  ENST00000647656 UniProtKB/TrEMBL
  ENST00000648229 UniProtKB/TrEMBL
  ENST00000648305 UniProtKB/TrEMBL
  ENST00000648392 UniProtKB/TrEMBL
  ENST00000648445 UniProtKB/TrEMBL
  ENST00000648618 UniProtKB/TrEMBL
  ENST00000648848 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000648856 UniProtKB/TrEMBL
  ENST00000648982 UniProtKB/TrEMBL
  ENST00000649002 UniProtKB/TrEMBL
  ENST00000649232 UniProtKB/TrEMBL
  ENST00000649409 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000649771 UniProtKB/TrEMBL
  ENST00000649985 UniProtKB/TrEMBL
  ENST00000650202 UniProtKB/TrEMBL
  ENST00000650206 UniProtKB/TrEMBL
  ENST00000650350 UniProtKB/TrEMBL
  ENST00000650533 UniProtKB/TrEMBL
  ENST00000650544 UniProtKB/TrEMBL
GTEx ENSG00000164619 GTEx
HGNC ID HGNC:24154 ENTREZGENE
Human Proteome Map BMPER Human Proteome Map
InterPro Ser_inhib-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unchr_dom_Cys-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_type-D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:168667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 168667 ENTREZGENE
OMIM 608022 OMIM
  608699 OMIM
Pfam PF08742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672557 PharmGKB
PROSITE VWFC_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00832 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57567 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N7U6 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IRM9_HUMAN UniProtKB/TrEMBL
  A0A3B3IRP7_HUMAN UniProtKB/TrEMBL
  A0A3B3IRQ4_HUMAN UniProtKB/TrEMBL
  A0A3B3IS51_HUMAN UniProtKB/TrEMBL
  A0A3B3ISK6_HUMAN UniProtKB/TrEMBL
  A0A3B3ISL7_HUMAN UniProtKB/TrEMBL
  A0A3B3ISN0_HUMAN UniProtKB/TrEMBL
  A0A3B3IT71_HUMAN UniProtKB/TrEMBL
  A0A3B3ITB6_HUMAN UniProtKB/TrEMBL
  A0A3B3ITD3_HUMAN UniProtKB/TrEMBL
  A0A3B3ITU0_HUMAN UniProtKB/TrEMBL
  A0A3B3ITW7_HUMAN UniProtKB/TrEMBL
  A0A3B3ITX1_HUMAN UniProtKB/TrEMBL
  A0A3B3ITY4_HUMAN UniProtKB/TrEMBL
  A0A3B3ITZ8_HUMAN UniProtKB/TrEMBL
  A0A3B3IUC5_HUMAN UniProtKB/TrEMBL
  A0A3B3IUD9_HUMAN UniProtKB/TrEMBL
  BMPER_HUMAN UniProtKB/Swiss-Prot
  F8WDG9_HUMAN UniProtKB/TrEMBL
  Q8N8U9 ENTREZGENE
UniProt Secondary A8K1P8 UniProtKB/Swiss-Prot
  Q8TF36 UniProtKB/Swiss-Prot