DNASE1L1 (deoxyribonuclease 1 like 1) - Rat Genome Database

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Gene: DNASE1L1 (deoxyribonuclease 1 like 1) Homo sapiens
Analyze
Symbol: DNASE1L1
Name: deoxyribonuclease 1 like 1
RGD ID: 1348755
HGNC Page HGNC
Description: Predicted to have DNA binding activity and deoxyribonuclease I activity. Predicted to be involved in DNA catabolic process, endonucleolytic. Localizes to endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: deoxyribonuclease I-like 1; deoxyribonuclease-1-like 1; DNAS1L1; DNase I, lysosomal-like; DNase I-like 1; DNase I-like, muscle-specific; DNase X; DNASEX; DNL1L; G4.8; muscle-specific DNase I-like; XIB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,401,236 - 154,412,112 (-)EnsemblGRCh38hg38GRCh38
GRCh38X154,401,236 - 154,412,101 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,629,577 - 153,640,438 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,282,773 - 153,293,621 (-)NCBINCBI36hg18NCBI36
Build 34X153,150,425 - 153,158,422NCBI
CeleraX153,790,635 - 153,801,484 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,206,968 - 142,217,816 (-)NCBIHuRef
CHM1_1X153,541,220 - 153,552,075 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8248200   PMID:8541839   PMID:8654957   PMID:8733135   PMID:9099869   PMID:9205125   PMID:10409440   PMID:11076863   PMID:11256614   PMID:11263960   PMID:12477932   PMID:15146197  
PMID:15489334   PMID:15489336   PMID:15772651   PMID:16107205   PMID:16381901   PMID:16569403   PMID:17180083   PMID:19913121   PMID:20503202   PMID:20628086   PMID:20967767   PMID:21873635  
PMID:23376485   PMID:24098122   PMID:24304513   PMID:24329527   PMID:26186194   PMID:28514442   PMID:29509190   PMID:30021884   PMID:31391242   PMID:31527615   PMID:31586073   PMID:32814053  


Genomics

Comparative Map Data
DNASE1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,401,236 - 154,412,112 (-)EnsemblGRCh38hg38GRCh38
GRCh38X154,401,236 - 154,412,101 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,629,577 - 153,640,438 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,282,773 - 153,293,621 (-)NCBINCBI36hg18NCBI36
Build 34X153,150,425 - 153,158,422NCBI
CeleraX153,790,635 - 153,801,484 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,206,968 - 142,217,816 (-)NCBIHuRef
CHM1_1X153,541,220 - 153,552,075 (-)NCBICHM1_1
Dnase1l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,316,823 - 73,325,939 (-)NCBIGRCm39mm39
GRCm39 EnsemblX73,316,823 - 73,325,943 (-)Ensembl
GRCm38X74,273,217 - 74,282,333 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,273,217 - 74,282,337 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,518,556 - 71,527,672 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X70,525,938 - 70,534,454 (-)NCBImm8
CeleraX65,526,994 - 65,536,124 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.94NCBI
Dnase1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,056,942 - 152,065,518 (-)NCBI
Rnor_6.0 EnsemblX156,429,585 - 156,438,066 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,429,521 - 156,438,066 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,169,678 - 152,178,213 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,327,966 - 160,336,447 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X160,404,391 - 160,412,828 (+)NCBI
Celera1135,831,332 - 135,839,813 (+)NCBICelera
Cytogenetic MapXq37NCBI
Dnase1l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580907,582 - 914,243 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580907,056 - 913,604 (-)NCBIChiLan1.0ChiLan1.0
DNASE1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,712,050 - 153,725,868 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,712,054 - 153,725,868 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,842,920 - 143,851,795 (-)NCBIMhudiblu_PPA_v0panPan3
DNASE1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,101,992 - 122,109,240 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,101,992 - 122,109,165 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,243,686 - 125,250,933 (-)NCBI
UMICH_Zoey_3.1X121,012,760 - 121,020,007 (-)NCBI
UNSW_CanFamBas_1.0X123,527,626 - 123,534,873 (-)NCBI
UU_Cfam_GSD_1.0X123,289,507 - 123,296,773 (-)NCBI
Dnase1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,413,626 - 119,420,791 (-)NCBI
SpeTri2.0NW_0049368091,151,312 - 1,159,017 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNASE1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,931,408 - 124,939,965 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,931,410 - 124,937,569 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DNASE1L1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Dnase1l1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946858,638 - 869,859 (-)NCBI

Position Markers
GDB:548776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,022 - 153,640,441UniSTSGRCh37
Build 36X153,293,216 - 153,293,635RGDNCBI36
CeleraX153,801,080 - 153,801,498RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,412 - 142,217,830UniSTS
GDB:548777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,344 - 153,637,573UniSTSGRCh37
Build 36X153,290,538 - 153,290,767RGDNCBI36
CeleraX153,798,404 - 153,798,633RGD
Cytogenetic MapXq28UniSTS
HuRefX142,214,735 - 142,214,964UniSTS
GDB:548779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,633,726 - 153,634,055UniSTSGRCh37
Build 36X153,286,920 - 153,287,249RGDNCBI36
CeleraX153,794,783 - 153,795,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,211,112 - 142,211,441UniSTS
GDB:548780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,633,098 - 153,633,536UniSTSGRCh37
Build 36X153,286,292 - 153,286,730RGDNCBI36
CeleraX153,794,155 - 153,794,593RGD
Cytogenetic MapXq28UniSTS
HuRefX142,210,485 - 142,210,922UniSTS
GDB:548781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,573 - 153,632,035UniSTSGRCh37
Build 36X153,284,767 - 153,285,229RGDNCBI36
CeleraX153,792,630 - 153,793,092RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,962 - 142,209,422UniSTS
GDB:548782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,229 - 153,631,594UniSTSGRCh37
Build 36X153,284,423 - 153,284,788RGDNCBI36
CeleraX153,792,286 - 153,792,651RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,618 - 142,208,983UniSTS
GDB:548783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,505 - 153,631,395UniSTSGRCh37
Build 36X153,283,699 - 153,284,589RGDNCBI36
CeleraX153,791,562 - 153,792,452RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,894 - 142,208,784UniSTS
G65815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,636,607 - 153,637,211UniSTSGRCh37
Build 36X153,289,801 - 153,290,405RGDNCBI36
CeleraX153,797,667 - 153,798,271RGD
Cytogenetic MapXq28UniSTS
HuRefX142,213,998 - 142,214,602UniSTS
ECD01292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,425 - 153,642,294UniSTSGRCh37
Build 36X153,294,619 - 153,295,488RGDNCBI36
CeleraX153,802,482 - 153,803,351RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,815 - 142,219,683UniSTS
ECD01698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,420 - 153,630,276UniSTSGRCh37
Build 36X153,282,614 - 153,283,470RGDNCBI36
CeleraX153,790,476 - 153,791,332RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,809 - 142,207,665UniSTS
ECD01918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,337 - 153,631,184UniSTSGRCh37
Build 36X153,283,531 - 153,284,378RGDNCBI36
CeleraX153,791,393 - 153,792,241RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,726 - 142,208,573UniSTS
ECD02316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,272 - 153,632,106UniSTSGRCh37
Build 36X153,284,466 - 153,285,300RGDNCBI36
CeleraX153,792,329 - 153,793,163RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,661 - 142,209,493UniSTS
ECD07224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,446 - 153,641,133UniSTSGRCh37
Build 36X153,293,640 - 153,294,327RGDNCBI36
CeleraX153,801,503 - 153,802,190RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,835 - 142,218,522UniSTS
ECD07323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,632,667 - 153,633,351UniSTSGRCh37
Build 36X153,285,861 - 153,286,545RGDNCBI36
CeleraX153,793,724 - 153,794,408RGD
Cytogenetic MapXq28UniSTS
HuRefX142,210,054 - 142,210,738UniSTS
ECD08741  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX153,794,432 - 153,795,079RGD
Cytogenetic MapXq28UniSTS
ECD11949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,118 - 153,637,675UniSTSGRCh37
Build 36X153,290,312 - 153,290,869RGDNCBI36
CeleraX153,798,178 - 153,798,735RGD
Cytogenetic MapXq28UniSTS
HuRefX142,214,509 - 142,215,066UniSTS
ECD12967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,737 - 153,638,267UniSTSGRCh37
Build 36X153,290,931 - 153,291,461RGDNCBI36
CeleraX153,798,797 - 153,799,327RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,128 - 142,215,657UniSTS
ECD17423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,029 - 153,640,429UniSTSGRCh37
Build 36X153,293,223 - 153,293,623RGDNCBI36
CeleraX153,801,087 - 153,801,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,419 - 142,217,818UniSTS
ECD17900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,636,633 - 153,637,013UniSTSGRCh37
Build 36X153,289,827 - 153,290,207RGDNCBI36
CeleraX153,797,693 - 153,798,073RGD
Cytogenetic MapXq28UniSTS
HuRefX142,214,024 - 142,214,404UniSTS
REN89429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,267 - 153,629,499UniSTSGRCh37
Build 36X153,282,461 - 153,282,693RGDNCBI36
CeleraX153,790,323 - 153,790,555RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,656 - 142,206,888UniSTS
REN89430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,486 - 153,629,734UniSTSGRCh37
Build 36X153,282,680 - 153,282,928RGDNCBI36
CeleraX153,790,542 - 153,790,790RGD
Cytogenetic MapXq28UniSTS
HuRefX142,206,875 - 142,207,123UniSTS
REN89431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,711 - 153,629,963UniSTSGRCh37
Build 36X153,282,905 - 153,283,157RGDNCBI36
CeleraX153,790,767 - 153,791,019RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,100 - 142,207,352UniSTS
REN89432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,961 - 153,630,188UniSTSGRCh37
Build 36X153,283,155 - 153,283,382RGDNCBI36
CeleraX153,791,017 - 153,791,244RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,350 - 142,207,577UniSTS
REN89433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,178 - 153,630,402UniSTSGRCh37
Build 36X153,283,372 - 153,283,596RGDNCBI36
CeleraX153,791,234 - 153,791,458RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,567 - 142,207,791UniSTS
REN89434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,383 - 153,630,627UniSTSGRCh37
Build 36X153,283,577 - 153,283,821RGDNCBI36
CeleraX153,791,439 - 153,791,684RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,772 - 142,208,016UniSTS
REN89435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,602 - 153,630,837UniSTSGRCh37
Build 36X153,283,796 - 153,284,031RGDNCBI36
CeleraX153,791,659 - 153,791,894RGD
Cytogenetic MapXq28UniSTS
HuRefX142,207,991 - 142,208,226UniSTS
REN89436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,798 - 153,631,024UniSTSGRCh37
Build 36X153,283,992 - 153,284,218RGDNCBI36
CeleraX153,791,855 - 153,792,081RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,187 - 142,208,413UniSTS
REN89437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,002 - 153,631,246UniSTSGRCh37
Build 36X153,284,196 - 153,284,440RGDNCBI36
CeleraX153,792,059 - 153,792,303RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,391 - 142,208,635UniSTS
REN89438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,228 - 153,631,454UniSTSGRCh37
Build 36X153,284,422 - 153,284,648RGDNCBI36
CeleraX153,792,285 - 153,792,511RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,617 - 142,208,843UniSTS
REN89439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,434 - 153,631,687UniSTSGRCh37
Build 36X153,284,628 - 153,284,881RGDNCBI36
CeleraX153,792,491 - 153,792,744RGD
Cytogenetic MapXq28UniSTS
HuRefX142,208,823 - 142,209,076UniSTS
REN89440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,670 - 153,631,936UniSTSGRCh37
Build 36X153,284,864 - 153,285,130RGDNCBI36
CeleraX153,792,727 - 153,792,993RGD
Cytogenetic MapXq28UniSTS
REN89441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,906 - 153,632,161UniSTSGRCh37
Build 36X153,285,100 - 153,285,355RGDNCBI36
CeleraX153,792,963 - 153,793,218RGD
Cytogenetic MapXq28UniSTS
REN89442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,632,137 - 153,632,390UniSTSGRCh37
Build 36X153,285,331 - 153,285,584RGDNCBI36
CeleraX153,793,194 - 153,793,447RGD
Cytogenetic MapXq28UniSTS
HuRefX142,209,524 - 142,209,777UniSTS
REN89443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,632,355 - 153,632,614UniSTSGRCh37
Build 36X153,285,549 - 153,285,808RGDNCBI36
CeleraX153,793,412 - 153,793,671RGD
Cytogenetic MapXq28UniSTS
HuRefX142,209,742 - 142,210,001UniSTS
REN89445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,632,810 - 153,633,054UniSTSGRCh37
Build 36X153,286,004 - 153,286,248RGDNCBI36
CeleraX153,793,867 - 153,794,111RGD
Cytogenetic MapXq28UniSTS
HuRefX142,210,197 - 142,210,441UniSTS
REN89446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,633,011 - 153,633,270UniSTSGRCh37
Build 36X153,286,205 - 153,286,464RGDNCBI36
CeleraX153,794,068 - 153,794,327RGD
Cytogenetic MapXq28UniSTS
HuRefX142,210,398 - 142,210,657UniSTS
REN89447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,633,245 - 153,633,475UniSTSGRCh37
Build 36X153,286,439 - 153,286,669RGDNCBI36
CeleraX153,794,302 - 153,794,532RGD
Cytogenetic MapXq28UniSTS
HuRefX142,210,632 - 142,210,861UniSTS
REN89448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,633,467 - 153,633,691UniSTSGRCh37
Build 36X153,286,661 - 153,286,885RGDNCBI36
CeleraX153,794,524 - 153,794,748RGD
Cytogenetic MapXq28UniSTS
HuRefX142,210,853 - 142,211,077UniSTS
REN89449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,633,686 - 153,633,915UniSTSGRCh37
Build 36X153,286,880 - 153,287,109RGDNCBI36
CeleraX153,794,743 - 153,794,972RGD
Cytogenetic MapXq28UniSTS
HuRefX142,211,072 - 142,211,301UniSTS
REN89450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,633,901 - 153,634,170UniSTSGRCh37
Build 36X153,287,095 - 153,287,364RGDNCBI36
CeleraX153,794,958 - 153,795,227RGD
Cytogenetic MapXq28UniSTS
HuRefX142,211,287 - 142,211,556UniSTS
REN89451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,634,051 - 153,634,309UniSTSGRCh37
Build 36X153,287,245 - 153,287,503RGDNCBI36
CeleraX153,795,108 - 153,795,366RGD
Cytogenetic MapXq28UniSTS
HuRefX142,211,437 - 142,211,695UniSTS
REN89452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,635,146 - 153,635,371UniSTSGRCh37
Build 36X153,288,340 - 153,288,565RGDNCBI36
CeleraX153,796,201 - 153,796,426RGD
Cytogenetic MapXq28UniSTS
HuRefX142,212,532 - 142,212,757UniSTS
REN89453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,635,148 - 153,635,396UniSTSGRCh37
Build 36X153,288,342 - 153,288,590RGDNCBI36
CeleraX153,796,203 - 153,796,451RGD
Cytogenetic MapXq28UniSTS
HuRefX142,212,534 - 142,212,782UniSTS
REN89454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,635,882 - 153,636,145UniSTSGRCh37
Build 36X153,289,076 - 153,289,339RGDNCBI36
CeleraX153,796,941 - 153,797,204RGD
Cytogenetic MapXq28UniSTS
HuRefX142,213,273 - 142,213,536UniSTS
REN89455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,636,357 - 153,636,606UniSTSGRCh37
Build 36X153,289,551 - 153,289,800RGDNCBI36
CeleraX153,797,417 - 153,797,666RGD
Cytogenetic MapXq28UniSTS
HuRefX142,213,748 - 142,213,997UniSTS
REN89456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,636,605 - 153,636,853UniSTSGRCh37
Build 36X153,289,799 - 153,290,047RGDNCBI36
CeleraX153,797,665 - 153,797,913RGD
Cytogenetic MapXq28UniSTS
HuRefX142,213,996 - 142,214,244UniSTS
REN89457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,636,828 - 153,637,064UniSTSGRCh37
Build 36X153,290,022 - 153,290,258RGDNCBI36
CeleraX153,797,888 - 153,798,124RGD
Cytogenetic MapXq28UniSTS
HuRefX142,214,219 - 142,214,455UniSTS
REN89458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,049 - 153,637,298UniSTSGRCh37
Build 36X153,290,243 - 153,290,492RGDNCBI36
CeleraX153,798,109 - 153,798,358RGD
Cytogenetic MapXq28UniSTS
HuRefX142,214,440 - 142,214,689UniSTS
REN89459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,297 - 153,637,546UniSTSGRCh37
Build 36X153,290,491 - 153,290,740RGDNCBI36
CeleraX153,798,357 - 153,798,606RGD
Cytogenetic MapXq28UniSTS
HuRefX142,214,688 - 142,214,937UniSTS
REN89460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,451 - 153,637,677UniSTSGRCh37
Build 36X153,290,645 - 153,290,871RGDNCBI36
CeleraX153,798,511 - 153,798,737RGD
Cytogenetic MapXq28UniSTS
HuRefX142,214,842 - 142,215,068UniSTS
REN89461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,658 - 153,637,902UniSTSGRCh37
Build 36X153,290,852 - 153,291,096RGDNCBI36
CeleraX153,798,718 - 153,798,962RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,049 - 142,215,293UniSTS
REN89462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,883 - 153,638,111UniSTSGRCh37
Build 36X153,291,077 - 153,291,305RGDNCBI36
CeleraX153,798,943 - 153,799,171RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,274 - 142,215,501UniSTS
REN89463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,638,063 - 153,638,303UniSTSGRCh37
Build 36X153,291,257 - 153,291,497RGDNCBI36
CeleraX153,799,123 - 153,799,363RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,453 - 142,215,693UniSTS
REN89464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,638,178 - 153,638,415UniSTSGRCh37
Build 36X153,291,372 - 153,291,609RGDNCBI36
CeleraX153,799,238 - 153,799,475RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,568 - 142,215,805UniSTS
REN89465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,278 - 153,639,504UniSTSGRCh37
Build 36X153,292,472 - 153,292,698RGDNCBI36
CeleraX153,800,337 - 153,800,563RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,668 - 142,216,894UniSTS
REN89466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,312 - 153,639,573UniSTSGRCh37
Build 36X153,292,506 - 153,292,767RGDNCBI36
CeleraX153,800,371 - 153,800,632RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,702 - 142,216,963UniSTS
REN89467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,514 - 153,639,739UniSTSGRCh37
Build 36X153,292,708 - 153,292,933RGDNCBI36
CeleraX153,800,573 - 153,800,798RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,904 - 142,217,129UniSTS
REN89468  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX153,800,766 - 153,801,030RGD
Cytogenetic MapXq28UniSTS
REN89469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,030 - 153,640,292UniSTSGRCh37
Build 36X153,293,224 - 153,293,486RGDNCBI36
CeleraX153,801,088 - 153,801,349RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,420 - 142,217,681UniSTS
REN89470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,274 - 153,640,531UniSTSGRCh37
Build 36X153,293,468 - 153,293,725RGDNCBI36
CeleraX153,801,331 - 153,801,588RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,663 - 142,217,920UniSTS
REN89471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,529 - 153,640,774UniSTSGRCh37
Build 36X153,293,723 - 153,293,968RGDNCBI36
CeleraX153,801,586 - 153,801,831RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,918 - 142,218,163UniSTS
REN89472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,722 - 153,640,983UniSTSGRCh37
Build 36X153,293,916 - 153,294,177RGDNCBI36
CeleraX153,801,779 - 153,802,040RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,111 - 142,218,372UniSTS
REN89473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,960 - 153,641,209UniSTSGRCh37
Build 36X153,294,154 - 153,294,403RGDNCBI36
CeleraX153,802,017 - 153,802,266RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,349 - 142,218,598UniSTS
REN89474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,185 - 153,641,429UniSTSGRCh37
Build 36X153,294,379 - 153,294,623RGDNCBI36
CeleraX153,802,242 - 153,802,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,574 - 142,218,819UniSTS
REN89475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,399 - 153,641,650UniSTSGRCh37
Build 36X153,294,593 - 153,294,844RGDNCBI36
CeleraX153,802,456 - 153,802,707RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,789 - 142,219,039UniSTS
REN89476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,648 - 153,641,879UniSTSGRCh37
Build 36X153,294,842 - 153,295,073RGDNCBI36
CeleraX153,802,705 - 153,802,936RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,037 - 142,219,268UniSTS
REN89477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,849 - 153,642,098UniSTSGRCh37
Build 36X153,295,043 - 153,295,292RGDNCBI36
CeleraX153,802,906 - 153,803,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,238 - 142,219,487UniSTS
REN89478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,076 - 153,642,341UniSTSGRCh37
Build 36X153,295,270 - 153,295,535RGDNCBI36
CeleraX153,803,133 - 153,803,398RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,465 - 142,219,730UniSTS
stSG604023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,630,612 - 153,631,922UniSTSGRCh37
Build 36X153,283,806 - 153,285,116RGDNCBI36
CeleraX153,791,669 - 153,792,979RGD
Cytogenetic MapXq28UniSTS
stSG604024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,631,903 - 153,633,059UniSTSGRCh37
Build 36X153,285,097 - 153,286,253RGDNCBI36
CeleraX153,792,960 - 153,794,116RGD
stSG604027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,636,884 - 153,637,088UniSTSGRCh37
Build 36X153,290,078 - 153,290,282RGDNCBI36
CeleraX153,797,944 - 153,798,148RGD
HuRefX142,214,275 - 142,214,479UniSTS
stSG604028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,090 - 153,638,171UniSTSGRCh37
Build 36X153,290,284 - 153,291,365RGDNCBI36
CeleraX153,798,150 - 153,799,231RGD
HuRefX142,214,481 - 142,215,561UniSTS
stSG604029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,555 - 153,638,641UniSTSGRCh37
Build 36X153,290,749 - 153,291,835RGDNCBI36
CeleraX153,798,615 - 153,799,701RGD
HuRefX142,214,946 - 142,216,031UniSTS
stSG604031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,269 - 153,641,444UniSTSGRCh37
Build 36X153,293,463 - 153,294,638RGDNCBI36
CeleraX153,801,326 - 153,802,501RGD
HuRefX142,217,658 - 142,218,834UniSTS
REN89444  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
HuRefX142,209,989 - 142,210,218UniSTS
G54829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,629,603 - 153,630,599UniSTSGRCh37
CeleraX153,790,659 - 153,791,656UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,206,992 - 142,207,988UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7320
Count of miRNA genes:1157
Interacting mature miRNAs:1471
Transcripts:ENST00000014935, ENST00000309585, ENST00000369807, ENST00000369808, ENST00000369809, ENST00000393638, ENST00000412184, ENST00000424626, ENST00000432135, ENST00000447892, ENST00000451865, ENST00000497242
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1134 2205 1236 201 1253 60 2964 1485 1115 275 935 1540 152 977 2137 2 2
Low 1305 786 490 423 695 405 1392 711 2618 144 525 73 22 1 227 651 3
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001009932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001009933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001009934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005277829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC245140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW445150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE900752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG468580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI756240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN346700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U06846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X90392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X90393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000014935   ⟹   ENSP00000014935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,401,758 - 154,410,039 (-)Ensembl
RefSeq Acc Id: ENST00000309585   ⟹   ENSP00000309168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,401,761 - 154,412,112 (-)Ensembl
RefSeq Acc Id: ENST00000369807   ⟹   ENSP00000358822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,401,236 - 154,409,254 (-)Ensembl
RefSeq Acc Id: ENST00000369808   ⟹   ENSP00000358823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,401,758 - 154,409,278 (-)Ensembl
RefSeq Acc Id: ENST00000369809   ⟹   ENSP00000358824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,401,238 - 154,412,090 (-)Ensembl
RefSeq Acc Id: ENST00000393638   ⟹   ENSP00000377255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,401,238 - 154,412,090 (-)Ensembl
RefSeq Acc Id: ENST00000412184   ⟹   ENSP00000416881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,403,138 - 154,405,618 (-)Ensembl
RefSeq Acc Id: ENST00000424626   ⟹   ENSP00000393000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,404,828 - 154,412,091 (-)Ensembl
RefSeq Acc Id: ENST00000432135   ⟹   ENSP00000410281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,405,489 - 154,412,089 (-)Ensembl
RefSeq Acc Id: ENST00000447892   ⟹   ENSP00000395591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,402,722 - 154,405,610 (-)Ensembl
RefSeq Acc Id: ENST00000451865   ⟹   ENSP00000393346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,403,092 - 154,412,083 (-)Ensembl
RefSeq Acc Id: ENST00000497242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,402,487 - 154,403,596 (-)Ensembl
RefSeq Acc Id: NM_001009932   ⟹   NP_001009932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,236 - 154,412,101 (-)NCBI
GRCh37X153,629,579 - 153,640,428 (-)NCBI
Build 36X153,282,773 - 153,293,621 (-)NCBI Archive
HuRefX142,206,968 - 142,217,816 (-)ENTREZGENE
CHM1_1X153,541,220 - 153,552,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001009933   ⟹   NP_001009933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,236 - 154,412,101 (-)NCBI
GRCh37X153,629,579 - 153,640,428 (-)NCBI
Build 36X153,282,773 - 153,293,621 (-)NCBI Archive
HuRefX142,206,968 - 142,217,816 (-)ENTREZGENE
CHM1_1X153,541,220 - 153,552,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001009934   ⟹   NP_001009934
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,236 - 154,412,101 (-)NCBI
GRCh37X153,629,579 - 153,640,428 (-)NCBI
Build 36X153,282,773 - 153,293,621 (-)NCBI Archive
HuRefX142,206,968 - 142,217,816 (-)ENTREZGENE
CHM1_1X153,541,220 - 153,552,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001303620   ⟹   NP_001290549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,236 - 154,409,254 (-)NCBI
CHM1_1X153,541,220 - 153,549,262 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006730   ⟹   NP_006721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,236 - 154,409,254 (-)NCBI
GRCh37X153,629,579 - 153,640,428 (-)NCBI
Build 36X153,282,773 - 153,290,769 (-)NCBI Archive
HuRefX142,206,968 - 142,217,816 (-)ENTREZGENE
CHM1_1X153,541,220 - 153,549,262 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005277829   ⟹   XP_005277886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,239 - 154,412,087 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531122   ⟹   XP_011529424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,239 - 154,410,005 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029332   ⟹   XP_016884821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,401,239 - 154,412,101 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001009934   ⟸   NM_001009934
- Peptide Label: precursor
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001009933   ⟸   NM_001009933
- Peptide Label: precursor
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001009932   ⟸   NM_001009932
- Peptide Label: precursor
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006721   ⟸   NM_006730
- Peptide Label: precursor
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005277886   ⟸   XM_005277829
- Peptide Label: isoform X1
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290549   ⟸   NM_001303620
- Peptide Label: precursor
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529424   ⟸   XM_011531122
- Peptide Label: isoform X1
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884821   ⟸   XM_017029332
- Peptide Label: isoform X1
- UniProtKB: P49184 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000393000   ⟸   ENST00000424626
RefSeq Acc Id: ENSP00000416881   ⟸   ENST00000412184
RefSeq Acc Id: ENSP00000393346   ⟸   ENST00000451865
RefSeq Acc Id: ENSP00000309168   ⟸   ENST00000309585
RefSeq Acc Id: ENSP00000410281   ⟸   ENST00000432135
RefSeq Acc Id: ENSP00000377255   ⟸   ENST00000393638
RefSeq Acc Id: ENSP00000395591   ⟸   ENST00000447892
RefSeq Acc Id: ENSP00000358823   ⟸   ENST00000369808
RefSeq Acc Id: ENSP00000358824   ⟸   ENST00000369809
RefSeq Acc Id: ENSP00000358822   ⟸   ENST00000369807
RefSeq Acc Id: ENSP00000014935   ⟸   ENST00000014935
Promoters
RGD ID:6808634
Promoter ID:HG_KWN:68646
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000320546,   OTTHUMT00000320547
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,286,621 - 153,287,121 (-)MPROMDB
RGD ID:6808664
Promoter ID:HG_KWN:68647
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000014935,   OTTHUMT00000080928,   UC004FKS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,290,689 - 153,291,189 (-)MPROMDB
RGD ID:6808633
Promoter ID:HG_KWN:68649
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001009932,   NM_001009934,   OTTHUMT00000080929,   OTTHUMT00000080930,   OTTHUMT00000080931,   OTTHUMT00000127881,   OTTHUMT00000316552
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,293,289 - 153,293,789 (-)MPROMDB
RGD ID:13628610
Promoter ID:EPDNEW_H29543
Type:initiation region
Name:DNASE1L1_2
Description:deoxyribonuclease 1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29547  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,409,205 - 154,409,265EPDNEW
RGD ID:13628618
Promoter ID:EPDNEW_H29547
Type:initiation region
Name:DNASE1L1_1
Description:deoxyribonuclease 1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29543  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,412,101 - 154,412,161EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.109+28C>T single nucleotide variant not specified [RCV000035085] ChrX:154411980 [GRCh38]
ChrX:153640317 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001340612]|not provided [RCV000766522]|not specified [RCV000035086] ChrX:154411856 [GRCh38]
ChrX:153640193 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) single nucleotide variant not specified [RCV000035093] ChrX:154411891 [GRCh38]
ChrX:153640228 [GRCh37]
ChrX:Xq28
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.110-17= single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000030474]|not specified [RCV000245792] ChrX:154412069 [GRCh38]
ChrX:153640406 [GRCh37]
ChrX:Xq28
benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154363949-154405679)x3 copy number gain See cases [RCV000137621] ChrX:154363949..154405679 [GRCh38]
ChrX:153592317..153634020 [GRCh37]
ChrX:153245511..153287214 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.-17C>T single nucleotide variant not specified [RCV000154436] ChrX:154411827 [GRCh38]
ChrX:153640164 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153640181)_(153641904_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV000154557] ChrX:153640181..153641904 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAZ):c.-119= deletion 3-Methylglutaconic aciduria type 2 [RCV000367327]|Cardiomyopathy, left ventricular noncompaction [RCV000275048]|Dilated cardiomyopathy 3B [RCV000375201]|Endocardial fibroelastosis [RCV000318438] ChrX:154411725 [GRCh38]
ChrX:153640062 [GRCh37]
ChrX:Xq28
benign
NM_000116.5(TAFAZZIN):c.-88G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000378751]|Cardiomyopathy, left ventricular noncompaction [RCV000286363]|Endocardial fibroelastosis [RCV000317169]|Primary dilated cardiomyopathy [RCV000259528] ChrX:154411756 [GRCh38]
ChrX:153640093 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000538576]|not provided [RCV000827408] ChrX:154411912 [GRCh38]
ChrX:153640249 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.-37C>T single nucleotide variant not specified [RCV000442950] ChrX:154411807 [GRCh38]
ChrX:153640144 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.110-6C>T single nucleotide variant Cardiomyopathy [RCV000770594]|not provided [RCV000950984]|not specified [RCV000426844] ChrX:154412080 [GRCh38]
ChrX:153640417 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000474914] ChrX:154412099 [GRCh38]
ChrX:153640436 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:153418991-153644258)x3 copy number gain See cases [RCV000511851] ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.108C>T (p.Thr36=) single nucleotide variant not specified [RCV000616107] ChrX:154411951 [GRCh38]
ChrX:153640288 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV000708327] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001169982]|Cardiomyopathy, left ventricular noncompaction [RCV000853160] ChrX:154411872 [GRCh38]
ChrX:153640209 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_153577207)_(153642537_?)dup duplication Periventricular nodular heterotopia 1 [RCV001031667] ChrX:153577207..153642537 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001303620.2(DNASE1L1):c.201G>C (p.Pro67=) single nucleotide variant not provided [RCV000948167] ChrX:154405018 [GRCh38]
ChrX:153633359 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000864634] ChrX:154411922 [GRCh38]
ChrX:153640259 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153577207)_(153650075_?)dup duplication Periventricular nodular heterotopia 1 [RCV000816614] ChrX:153577207..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153640161)_(153649363_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV000808649] ChrX:153640161..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000813199] ChrX:154411894 [GRCh38]
ChrX:153640231 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001167556]|Endocardial fibroelastosis [RCV001167554]|Primary dilated cardiomyopathy [RCV001167555] ChrX:154411892 [GRCh38]
ChrX:153640229 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 copy number gain not provided [RCV000847428] ChrX:153255132..153636707 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000116.5(TAFAZZIN):c.110-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011858] ChrX:154412084 [GRCh38]
ChrX:153640421 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001228815] ChrX:154411890 [GRCh38]
ChrX:153640227 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001051674] ChrX:154411932 [GRCh38]
ChrX:153640269 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001042821] ChrX:154411870 [GRCh38]
ChrX:153640207 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV001313748] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2957 AgrOrtholog
COSMIC DNASE1L1 COSMIC
Ensembl Genes ENSG00000013563 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000014935 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000309168 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358823 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358824 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377255 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393000 UniProtKB/TrEMBL
  ENSP00000393346 UniProtKB/TrEMBL
  ENSP00000395591 UniProtKB/TrEMBL
  ENSP00000410281 UniProtKB/TrEMBL
  ENSP00000416881 UniProtKB/TrEMBL
Ensembl Transcript ENST00000014935 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000309585 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369808 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369809 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393638 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412184 UniProtKB/TrEMBL
  ENST00000424626 UniProtKB/TrEMBL
  ENST00000432135 UniProtKB/TrEMBL
  ENST00000447892 UniProtKB/TrEMBL
  ENST00000451865 UniProtKB/TrEMBL
Gene3D-CATH 3.60.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000013563 GTEx
HGNC ID HGNC:2957 ENTREZGENE
Human Proteome Map DNASE1L1 Human Proteome Map
InterPro Deoxyribonuclease-1_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNase_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNASE_I_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endo/exonu/phosph_ase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endo/exonuclease/phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1774 UniProtKB/Swiss-Prot
NCBI Gene 1774 ENTREZGENE
OMIM 300081 OMIM
Pfam Exo_endo_phos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27428 PharmGKB
PIRSF DNase_I_euk UniProtKB/Swiss-Prot
PRINTS DNASEI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNASE_I_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNASE_I_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DNaseIc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56219 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A3KQT1_HUMAN UniProtKB/TrEMBL
  A6QRJ0_HUMAN UniProtKB/TrEMBL
  DNSL1_HUMAN UniProtKB/Swiss-Prot
  E7ESG1_HUMAN UniProtKB/TrEMBL
  E7EUJ0_HUMAN UniProtKB/TrEMBL
  P49184 ENTREZGENE
  Q5HY40_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DWW7 UniProtKB/Swiss-Prot
  Q5HY41 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 DNASE1L1  deoxyribonuclease 1 like 1    deoxyribonuclease I-like 1  Symbol and/or name change 5135510 APPROVED
2011-08-17 DNASE1L1  deoxyribonuclease I-like 1  DNASE1L1  deoxyribonuclease I-like 1  Symbol and/or name change 5135510 APPROVED