FUNDC2 (FUN14 domain containing 2) - Rat Genome Database

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Gene: FUNDC2 (FUN14 domain containing 2) Homo sapiens
Analyze
Symbol: FUNDC2
Name: FUN14 domain containing 2
RGD ID: 1351400
HGNC Page HGNC
Description: Predicted to be involved in autophagy of mitochondrion. Localizes to mitochondrion; INTERACTS WITH aflatoxin B1; amiodarone; atrazine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: cervical cancer oncogene 3; cervical cancer proto-oncogene 3 protein; DC44; FLJ33773; FUN14 domain-containing protein 2; HCBP6; HCC-3; HCC3; hepatitis C virus core-binding protein 6; MGC131676; MGC2495; PD03104
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: FUNDC2P1   FUNDC2P2   FUNDC2P3   FUNDC2P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,025,980 - 155,060,304 (+)EnsemblGRCh38hg38GRCh38
GRCh38X155,026,844 - 155,060,304 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,255,119 - 154,288,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,908,258 - 153,938,385 (+)NCBINCBI36hg18NCBI36
Build 34X153,818,825 - 153,847,085NCBI
CeleraX154,413,800 - 154,443,906 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,800,036 - 142,830,182 (+)NCBIHuRef
CHM1_1X154,166,689 - 154,196,808 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:11076863   PMID:11256614   PMID:12665903   PMID:14702039   PMID:15146197   PMID:15489336   PMID:16169070   PMID:16381901   PMID:20833797   PMID:21630459   PMID:21873635  
PMID:21900206   PMID:22645275   PMID:22658674   PMID:25416956   PMID:25855506   PMID:26186194   PMID:26496610   PMID:26972000   PMID:27499296   PMID:28057766   PMID:28514442   PMID:28712289  
PMID:29187281   PMID:29786068   PMID:30021884   PMID:30194290   PMID:32296183   PMID:32877691   PMID:33060197  


Genomics

Comparative Map Data
FUNDC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,025,980 - 155,060,304 (+)EnsemblGRCh38hg38GRCh38
GRCh38X155,026,844 - 155,060,304 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,255,119 - 154,288,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,908,258 - 153,938,385 (+)NCBINCBI36hg18NCBI36
Build 34X153,818,825 - 153,847,085NCBI
CeleraX154,413,800 - 154,443,906 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,800,036 - 142,830,182 (+)NCBIHuRef
CHM1_1X154,166,689 - 154,196,808 (+)NCBICHM1_1
Fundc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X74,426,005 - 74,440,764 (+)NCBIGRCm39mm39
GRCm39 EnsemblX74,426,005 - 74,440,065 (+)Ensembl
GRCm38X75,382,399 - 75,397,158 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX75,382,399 - 75,396,459 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X72,627,738 - 72,642,497 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X71,635,142 - 71,648,836 (+)NCBImm8
CeleraX66,783,170 - 66,799,149 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Fundc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.218128,473 - 138,232 (-)NCBI
Rnor_6.0 Ensembl18402,295 - 407,954 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.018401,878 - 407,954 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.018447,139 - 453,204 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.418112,408 - 118,067 (-)NCBIRGSC3.4rn4RGSC3.4
Celera18125,282 - 130,946 (-)NCBICelera
Cytogenetic Map18p13NCBI
Fundc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955594625,701 - 656,400 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955594627,839 - 656,241 (-)NCBIChiLan1.0ChiLan1.0
FUNDC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X154,345,251 - 154,373,806 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX154,345,251 - 154,374,743 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X144,505,703 - 144,534,871 (+)NCBIMhudiblu_PPA_v0panPan3
FUNDC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X123,046,451 - 123,064,580 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX123,045,954 - 123,064,580 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX108,039,832 - 108,057,960 (+)NCBI
ROS_Cfam_1.0X126,174,003 - 126,192,133 (+)NCBI
UMICH_Zoey_3.1X121,921,891 - 121,940,021 (+)NCBI
UNSW_CanFamBas_1.0X124,444,308 - 124,462,462 (+)NCBI
UU_Cfam_GSD_1.0X124,165,031 - 124,183,161 (+)NCBI
Fundc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,945,691 - 119,960,506 (+)NCBI
SpeTri2.0NW_004936927304,162 - 318,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FUNDC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,354,009 - 125,372,627 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,354,032 - 125,366,029 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,117,012 - 143,129,015 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FUNDC2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,315,315 - 129,342,395 (+)NCBI
ChlSab1.1 EnsemblX129,315,465 - 129,342,193 (+)Ensembl
Fundc2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624963223,145 - 250,841 (-)NCBI

Position Markers
ECD03608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,274,598 - 154,275,387UniSTSGRCh37
Build 36X153,927,792 - 153,928,581RGDNCBI36
CeleraX154,433,314 - 154,434,103RGD
Cytogenetic MapXq28UniSTS
HuRefX142,819,589 - 142,820,378UniSTS
ECD06005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,283,160 - 154,283,880UniSTSGRCh37
Build 36X153,936,354 - 153,937,074RGDNCBI36
CeleraX154,441,875 - 154,442,595RGD
Cytogenetic MapXq28UniSTS
HuRefX142,828,151 - 142,828,871UniSTS
ECD07087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,282,450 - 154,283,141UniSTSGRCh37
Build 36X153,935,644 - 153,936,335RGDNCBI36
CeleraX154,441,165 - 154,441,856RGD
Cytogenetic MapXq28UniSTS
HuRefX142,827,441 - 142,828,132UniSTS
ECD07678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,279,758 - 154,280,433UniSTSGRCh37
Build 36X153,932,952 - 153,933,627RGDNCBI36
CeleraX154,438,474 - 154,439,149RGD
Cytogenetic MapXq28UniSTS
HuRefX142,824,749 - 142,825,424UniSTS
ECD07963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,278,997 - 154,279,664UniSTSGRCh37
Build 36X153,932,191 - 153,932,858RGDNCBI36
CeleraX154,437,713 - 154,438,380RGD
Cytogenetic MapXq28UniSTS
HuRefX142,823,989 - 142,824,656UniSTS
ECD09392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,275,949 - 154,276,579UniSTSGRCh37
Build 36X153,929,143 - 153,929,773RGDNCBI36
CeleraX154,434,665 - 154,435,295RGD
Cytogenetic MapXq28UniSTS
HuRefX142,820,940 - 142,821,570UniSTS
ECD13457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,280,637 - 154,281,154UniSTSGRCh37
Build 36X153,933,831 - 153,934,348RGDNCBI36
CeleraX154,439,353 - 154,439,870RGD
Cytogenetic MapXq28UniSTS
HuRefX142,825,628 - 142,826,145UniSTS
ECD13623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,261,440 - 154,261,956UniSTSGRCh37
Build 36X153,914,634 - 153,915,150RGDNCBI36
CeleraX154,420,179 - 154,420,695RGD
Cytogenetic MapXq28UniSTS
HuRefX142,806,474 - 142,806,990UniSTS
ECD17738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,254,576 - 154,254,962UniSTSGRCh37
Build 36X153,907,770 - 153,908,156RGDNCBI36
CeleraX154,413,312 - 154,413,698RGD
Cytogenetic MapXq28UniSTS
HuRefX142,799,547 - 142,799,933UniSTS
ECD18560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,256,264 - 154,256,590UniSTSGRCh37
Build 36X153,909,458 - 153,909,784RGDNCBI36
CeleraX154,415,000 - 154,415,328RGD
Cytogenetic MapXq28UniSTS
HuRefX142,801,236 - 142,801,562UniSTS
ECD20614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,253,285 - 154,253,563UniSTSGRCh37
Build 36X153,906,479 - 153,906,757RGDNCBI36
CeleraX154,412,021 - 154,412,299RGD
Cytogenetic MapXq28UniSTS
HuRefX142,798,383 - 142,798,661UniSTS
ECD21185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,271,890 - 154,272,148UniSTSGRCh37
Build 36X153,925,084 - 153,925,342RGDNCBI36
CeleraX154,430,609 - 154,430,867RGD
Cytogenetic MapXq28UniSTS
HuRefX142,816,457 - 142,816,715UniSTS
ECD21451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,259,943 - 154,260,192UniSTSGRCh37
Build 36X153,913,137 - 153,913,386RGDNCBI36
CeleraX154,418,681 - 154,418,930RGD
Cytogenetic MapXq28UniSTS
HuRefX142,804,977 - 142,805,226UniSTS
ECD22301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,275,555 - 154,275,778UniSTSGRCh37
Build 36X153,928,749 - 153,928,972RGDNCBI36
CeleraX154,434,271 - 154,434,494RGD
Cytogenetic MapXq28UniSTS
HuRefX142,820,546 - 142,820,769UniSTS
ECD22399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,284,166 - 154,284,386UniSTSGRCh37
Build 36X153,937,360 - 153,937,580RGDNCBI36
CeleraX154,442,881 - 154,443,101RGD
Cytogenetic MapXq28UniSTS
HuRefX142,829,157 - 142,829,377UniSTS
ECD23325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,281,762 - 154,281,954UniSTSGRCh37
Build 36X153,934,956 - 153,935,148RGDNCBI36
Cytogenetic MapXq28UniSTS
HuRefX142,826,753 - 142,826,945UniSTS
ECD24296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,281,501 - 154,281,646UniSTSGRCh37
Build 36X153,934,695 - 153,934,840RGDNCBI36
CeleraX154,440,217 - 154,440,362RGD
Cytogenetic MapXq28UniSTS
HuRefX142,826,492 - 142,826,637UniSTS
stSG604407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,253,545 - 154,254,962UniSTSGRCh37
Build 36X153,906,739 - 153,908,156RGDNCBI36
CeleraX154,412,281 - 154,413,698RGD
HuRefX142,798,643 - 142,799,933UniSTS
stSG604408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,254,943 - 154,256,296UniSTSGRCh37
Build 36X153,908,137 - 153,909,490RGDNCBI36
CeleraX154,413,679 - 154,415,032RGD
HuRefX142,799,914 - 142,801,268UniSTS
stSG604409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,255,828 - 154,257,182UniSTSGRCh37
Build 36X153,909,022 - 153,910,376RGDNCBI36
CeleraX154,414,564 - 154,415,920RGD
HuRefX142,800,800 - 142,802,154UniSTS
stSG604410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,259,943 - 154,261,081UniSTSGRCh37
Build 36X153,913,137 - 153,914,275RGDNCBI36
CeleraX154,418,681 - 154,419,820RGD
HuRefX142,804,977 - 142,806,115UniSTS
stSG604411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,261,081 - 154,262,454UniSTSGRCh37
Build 36X153,914,275 - 153,915,648RGDNCBI36
CeleraX154,419,820 - 154,421,193RGD
HuRefX142,806,115 - 142,807,489UniSTS
stSG604412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,262,435 - 154,263,593UniSTSGRCh37
Build 36X153,915,629 - 153,916,787RGDNCBI36
CeleraX154,421,174 - 154,422,332RGD
HuRefX142,807,470 - 142,808,628UniSTS
stSG604413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,271,901 - 154,272,148UniSTSGRCh37
Build 36X153,925,095 - 153,925,342RGDNCBI36
CeleraX154,430,620 - 154,430,867RGD
HuRefX142,816,468 - 142,816,715UniSTS
stSG604414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,274,596 - 154,275,610UniSTSGRCh37
Build 36X153,927,790 - 153,928,804RGDNCBI36
CeleraX154,433,312 - 154,434,326RGD
HuRefX142,819,587 - 142,820,601UniSTS
stSG604415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,275,590 - 154,276,595UniSTSGRCh37
Build 36X153,928,784 - 153,929,789RGDNCBI36
CeleraX154,434,306 - 154,435,311RGD
HuRefX142,820,581 - 142,821,586UniSTS
stSG604416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,276,574 - 154,277,574UniSTSGRCh37
Build 36X153,929,768 - 153,930,768RGDNCBI36
CeleraX154,435,290 - 154,436,290RGD
HuRefX142,821,565 - 142,822,565UniSTS
stSG604417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,277,570 - 154,279,036UniSTSGRCh37
Build 36X153,930,764 - 153,932,230RGDNCBI36
CeleraX154,436,286 - 154,437,752RGD
Cytogenetic MapXq28UniSTS
HuRefX142,822,561 - 142,824,028UniSTS
stSG604418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,279,017 - 154,280,339UniSTSGRCh37
Build 36X153,932,211 - 153,933,533RGDNCBI36
CeleraX154,437,733 - 154,439,055RGD
HuRefX142,824,009 - 142,825,330UniSTS
stSG604419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,280,326 - 154,281,633UniSTSGRCh37
Build 36X153,933,520 - 153,934,827RGDNCBI36
CeleraX154,439,042 - 154,440,349RGD
HuRefX142,825,317 - 142,826,624UniSTS
stSG604420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,281,614 - 154,283,038UniSTSGRCh37
Build 36X153,934,808 - 153,936,232RGDNCBI36
CeleraX154,440,330 - 154,441,753RGD
HuRefX142,826,605 - 142,828,029UniSTS
stSG604421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,283,019 - 154,284,386UniSTSGRCh37
Build 36X153,936,213 - 153,937,580RGDNCBI36
CeleraX154,441,734 - 154,443,101RGD
Cytogenetic MapXq28UniSTS
HuRefX142,828,010 - 142,829,377UniSTS
STS-AA002210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37572,805,134 - 72,805,419UniSTSGRCh37
GRCh37X154,283,002 - 154,283,263UniSTSGRCh37
Build 36X153,936,196 - 153,936,457RGDNCBI36
CeleraX154,441,717 - 154,441,978RGD
Celera568,700,426 - 68,700,711UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map5q13.2UniSTS
HuRef568,010,641 - 68,010,926UniSTS
HuRefX142,827,993 - 142,828,254UniSTS
GeneMap99-GB4 RH MapX356.07UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3204
Count of miRNA genes:1222
Interacting mature miRNAs:1519
Transcripts:ENST00000369498, ENST00000456179, ENST00000471528, ENST00000475165, ENST00000484175, ENST00000485289, ENST00000492303
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
Result types:miRGate_prediction

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

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


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 adipose tissue appendage entire extraembryonic component
High
Medium 2132 2206 1403 299 1103 161 3893 2107 2915 345 1400 1558 150 1200 2558 3
Low 300 778 320 323 845 303 462 86 793 73 48 50 21 4 230 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_023934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF267862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF320778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI886036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY032594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI463291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM713884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU738737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX470111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN306694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369498   ⟹   ENSP00000358510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,026,844 - 155,060,304 (+)Ensembl
RefSeq Acc Id: ENST00000456179   ⟹   ENSP00000395488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,033,426 - 155,055,106 (+)Ensembl
RefSeq Acc Id: ENST00000471528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,047,057 - 155,054,892 (+)Ensembl
RefSeq Acc Id: ENST00000475165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,025,980 - 155,051,732 (+)Ensembl
RefSeq Acc Id: ENST00000484175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,027,153 - 155,054,681 (+)Ensembl
RefSeq Acc Id: ENST00000485289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,032,979 - 155,054,613 (+)Ensembl
RefSeq Acc Id: ENST00000492303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,049,094 - 155,055,571 (+)Ensembl
RefSeq Acc Id: NM_023934   ⟹   NP_076423
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,026,844 - 155,060,304 (+)NCBI
GRCh37X154,255,064 - 154,285,191 (+)RGD
Build 36X153,908,258 - 153,938,385 (+)NCBI Archive
CeleraX154,413,800 - 154,443,906 (+)RGD
HuRefX142,800,036 - 142,830,182 (+)RGD
CHM1_1X154,166,689 - 154,196,808 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_076423   ⟸   NM_023934
- UniProtKB: Q9BWH2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000395488   ⟸   ENST00000456179
RefSeq Acc Id: ENSP00000358510   ⟸   ENST00000369498

Promoters
RGD ID:6808743
Promoter ID:HG_KWN:68721
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000327891,   ENST00000355488,   OTTHUMT00000037641
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,908,161 - 153,908,812 (+)MPROMDB
RGD ID:6808865
Promoter ID:HG_KWN:68725
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000037642
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,930,661 - 153,932,657 (+)MPROMDB
RGD ID:13628680
Promoter ID:EPDNEW_H29578
Type:initiation region
Name:FUNDC2_2
Description:FUN14 domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29579  EPDNEW_H29580  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,025,865 - 155,025,925EPDNEW
RGD ID:13628682
Promoter ID:EPDNEW_H29579
Type:initiation region
Name:FUNDC2_3
Description:FUN14 domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29578  EPDNEW_H29580  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,026,643 - 155,026,703EPDNEW
RGD ID:13628684
Promoter ID:EPDNEW_H29580
Type:initiation region
Name:FUNDC2_1
Description:FUN14 domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29578  EPDNEW_H29579  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,026,917 - 155,026,977EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 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: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)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq28(chrX:154931352-155331063)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050362]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050362]|See cases [RCV000050362] ChrX:154931352..155331063 [GRCh38]
ChrX:154159627..154560375 [GRCh37]
ChrX:Xq28
uncertain significance
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 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 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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 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 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 Xq28(chrX:154897608-155335682)x1 copy number loss See cases [RCV000051761] ChrX:154897608..155335682 [GRCh38]
ChrX:153779077..154218185 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154984506-155098444)x0 copy number loss See cases [RCV000051763] ChrX:154984506..155098444 [GRCh38]
ChrX:153865975..153979913 [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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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: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 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:154791149-155996431)x3 copy number gain See cases [RCV000054323] ChrX:154791149..155996431 [GRCh38]
ChrX:153672618..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155007151-155491717)x3 copy number gain See cases [RCV000054324] ChrX:155007151..155491717 [GRCh38]
ChrX:154418093..154721378 [GRCh37]
ChrX:153888620..154374572 [NCBI36]
ChrX:Xq28
uncertain significance
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
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 Xq28(chrX:154931352-155331063)x1 copy number loss See cases [RCV000133832] ChrX:154931352..155331063 [GRCh38]
ChrX:153812821..154213569 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
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 Xq28(chrX:154931352-155331063)x3 copy number gain See cases [RCV000050362] ChrX:154931352..155331063 [GRCh38]
ChrX:153812821..154213569 [NCBI36]
ChrX:Xq28
uncertain significance
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: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 Xq28(chrX:154984506-155098444)x1 copy number loss See cases [RCV000051762] ChrX:154984506..155098444 [GRCh38]
ChrX:153865975..153979913 [NCBI36]
ChrX:Xq28
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 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 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 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 Xq28(chrX:154836929-155123329)x3 copy number gain See cases [RCV000135629] ChrX:154836929..155123329 [GRCh38]
ChrX:153718398..154004798 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 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 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:154904963-155331063)x1 copy number loss See cases [RCV000137010] ChrX:154904963..155331063 [GRCh38]
ChrX:153786432..154213569 [NCBI36]
ChrX:Xq28
uncertain significance
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 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 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: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 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 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 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 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 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 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 Xq28(chrX:154890368-155348538)x2 copy number gain See cases [RCV000137816] ChrX:154890368..155348538 [GRCh38]
ChrX:153771837..154231046 [NCBI36]
ChrX:Xq28
uncertain significance
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 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 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 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 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:154890313-155331062)x1 copy number loss See cases [RCV000139766] ChrX:154890313..155331062 [GRCh38]
ChrX:153771782..154213568 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
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 Xq28(chrX:154883744-155336409)x2 copy number gain See cases [RCV000141857] ChrX:154883744..155336409 [GRCh38]
ChrX:154112019..154565718 [GRCh37]
ChrX:153765213..154218912 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:154892324-155339449)x1 copy number loss See cases [RCV000142097] ChrX:154892324..155339449 [GRCh38]
ChrX:154120599..154568758 [GRCh37]
ChrX:153773793..154221952 [NCBI36]
ChrX:Xq28
uncertain significance
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 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 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)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154124111-154564398) copy number gain See cases [RCV000169646] ChrX:154124111..154564398 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154124111-154564398) copy number loss See cases [RCV000169647] ChrX:154124111..154564398 [GRCh37]
ChrX:Xq28
pathogenic|likely 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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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 Xq28(chrX:154256858-154297348)x0 copy number loss See cases [RCV000258800] ChrX:154256858..154297348 [GRCh37]
ChrX:Xq28
likely 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 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: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 Xq28(chrX:154115785-154528181)x1 copy number loss See cases [RCV000239872] ChrX:154115785..154528181 [GRCh37]
ChrX:Xq28
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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
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: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 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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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:168546-155196888)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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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
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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:70297-155246585)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
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154124170-154528181)x1 copy number loss X-linked intellectual disability syndrome [RCV000509496] ChrX:154124170..154528181 [GRCh37]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:154110363-154565718)x3 copy number gain See cases [RCV000510427] ChrX:154110363..154565718 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 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:154110363-154568758)x3 copy number gain See cases [RCV000511866] ChrX:154110363..154568758 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154250433-154317840)x0 copy number loss See cases [RCV000511063] ChrX:154250433..154317840 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:154117578-154553189)x2 copy number gain See cases [RCV000510828] ChrX:154117578..154553189 [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
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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 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:154120620-154565718)x1 copy number loss See cases [RCV000512474] ChrX:154120620..154565718 [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
Single allele deletion not provided [RCV000677993] ChrX:154115785..154528181 [GRCh37]
ChrX:Xq28
likely 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 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
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 Xq28(chrX:154110363-154417230)x2 copy number gain not provided [RCV000684417] ChrX:154110363..154417230 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154568774)x2 copy number gain not provided [RCV000684418] ChrX:154120620..154568774 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154120640-154565718)x1 copy number loss not provided [RCV000684419] ChrX:154120640..154565718 [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 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:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [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 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
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 Xq28(chrX:153904473-155090513)x0 copy number loss not provided [RCV000753943] ChrX:153904473..155090513 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154038887-154758477)x3 copy number gain not provided [RCV000753944] ChrX:154038887..154758477 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154038887-154921557)x0 copy number loss not provided [RCV000753945] ChrX:154038887..154921557 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154070167-154927199)x1 copy number loss not provided [RCV000753946] ChrX:154070167..154927199 [GRCh37]
ChrX:Xq28
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 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
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 Xq28(chrX:154252722-154343784)x0 copy number loss not provided [RCV001007371] ChrX:154252722..154343784 [GRCh37]
ChrX:Xq28
likely pathogenic
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 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154117563-154617602)x2 copy number gain not provided [RCV000845701] ChrX:154117563..154617602 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153941568-154290231)x2 copy number gain not provided [RCV000846317] ChrX:153941568..154290231 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:154238385-154339708)x2 copy number gain not provided [RCV000847882] ChrX:154238385..154339708 [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
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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 Xq28(chrX:154117563-154633634)x3 copy number gain not provided [RCV000847765] ChrX:154117563..154633634 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154130223-154563104)x3 copy number gain See cases [RCV001194537] ChrX:154130223..154563104 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154112019-154625699)x2 copy number gain not provided [RCV001007369] ChrX:154112019..154625699 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154051891-155236747)x3 copy number gain See cases [RCV001194554] ChrX:154051891..155236747 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154617577)x3 copy number gain not provided [RCV001007370] ChrX:154120620..154617577 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154078238-154563469)x3 copy number gain not provided [RCV001260057] ChrX:154078238..154563469 [GRCh37]
ChrX:Xq28
pathogenic
NM_023934.4(FUNDC2):c.-2_133+51del deletion Hereditary factor VIII deficiency disease [RCV001265078] ChrX:155026935..155027120 [GRCh38]
ChrX:154255210..154255395 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_023934.4(FUNDC2):c.361-2517_0del deletion Aganglionic megacolon [RCV001290038] ChrX:155049151..155071205 [GRCh38]
ChrX:154277426..154299480 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24925 AgrOrtholog
COSMIC FUNDC2 COSMIC
Ensembl Genes ENSG00000165775 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358510 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395488 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369498 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456179 UniProtKB/TrEMBL
GTEx ENSG00000165775 GTEx
HGNC ID HGNC:24925 ENTREZGENE
Human Proteome Map FUNDC2 Human Proteome Map
InterPro FUN14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:65991 UniProtKB/Swiss-Prot
NCBI Gene 65991 ENTREZGENE
OMIM 301042 OMIM
PANTHER PTHR21346 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FUN14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134908797 PharmGKB
UniProt FUND2_HUMAN UniProtKB/Swiss-Prot
  H7C0K8_HUMAN UniProtKB/TrEMBL
  L0R6G9_HUMAN UniProtKB/TrEMBL
  Q9BWH2 ENTREZGENE
UniProt Secondary B2R7W5 UniProtKB/Swiss-Prot
  D3DWY5 UniProtKB/Swiss-Prot
  Q8NHX8 UniProtKB/Swiss-Prot
  Q9H2I6 UniProtKB/Swiss-Prot