CENPI (centromere protein I) - Rat Genome Database

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Gene: CENPI (centromere protein I) Homo sapiens
Analyze
Symbol: CENPI
Name: centromere protein I
RGD ID: 733555
HGNC Page HGNC:3968
Description: Predicted to be involved in CENP-A containing chromatin assembly and mitotic sister chromatid segregation. Located in inner kinetochore and nuclear body.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CENP-I; follicle-stimulating hormone primary response protein; FSH primary response 1; FSH primary response protein 1; FSHPRH1; interphase centromere complex protein 19; leucine-rich primary response protein 1; LRPR1; Mis6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CENPIP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,098,204 - 101,181,859 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,098,188 - 101,166,126 (+)EnsemblGRCh38hg38GRCh38
GRCh37X100,353,193 - 100,421,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,241,454 - 100,304,634 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X100,160,942 - 100,224,121NCBI
CeleraX100,873,565 - 100,936,744 (+)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,157,955 - 90,222,098 (+)NCBIHuRef
CHM1_1X100,247,886 - 100,311,777 (+)NCBICHM1_1
T2T-CHM13v2.0X99,541,564 - 99,625,927 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-methylcholanthrene  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dichloroacetic acid  (ISO)
dioxygen  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
folic acid  (EXP)
folpet  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
lucanthone  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
potassium chromate  (EXP)
propanal  (EXP)
quercetin  (EXP)
sodium arsenite  (EXP,ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
chromosome, centromeric region  (IEA)
cytosol  (TAS)
inner kinetochore  (IBA,IEA,IPI)
kinetochore  (IDA,IEA)
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IEA,NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1538749   PMID:7758824   PMID:8921378   PMID:12477932   PMID:12640463   PMID:15009096   PMID:15489334   PMID:15772651   PMID:16344560   PMID:16565220   PMID:16622419   PMID:16622420  
PMID:16716197   PMID:18045986   PMID:20212317   PMID:21832049   PMID:21873635   PMID:21888900   PMID:24862574   PMID:24981860   PMID:25525168   PMID:26496610   PMID:26527398   PMID:28514442  
PMID:29180619   PMID:29507755   PMID:29656893   PMID:29778605   PMID:29936263   PMID:30021884   PMID:31912435   PMID:32296183   PMID:32694731   PMID:33536335   PMID:33961781   PMID:34079125  
PMID:34617858   PMID:35271311   PMID:35337019   PMID:36085283   PMID:36724073   PMID:38232915  


Genomics

Comparative Map Data
CENPI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,098,204 - 101,181,859 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,098,188 - 101,166,126 (+)EnsemblGRCh38hg38GRCh38
GRCh37X100,353,193 - 100,421,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,241,454 - 100,304,634 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X100,160,942 - 100,224,121NCBI
CeleraX100,873,565 - 100,936,744 (+)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,157,955 - 90,222,098 (+)NCBIHuRef
CHM1_1X100,247,886 - 100,311,777 (+)NCBICHM1_1
T2T-CHM13v2.0X99,541,564 - 99,625,927 (+)NCBIT2T-CHM13v2.0
Cenpi
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,206,777 - 133,263,853 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX133,208,833 - 133,263,388 (+)EnsemblGRCm39 Ensembl
GRCm38X134,308,084 - 134,363,104 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,308,084 - 134,362,639 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X130,842,702 - 130,897,178 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X129,654,513 - 129,708,989 (+)NCBIMGSCv36mm8
CeleraX117,186,889 - 117,241,322 (+)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX56.08NCBI
Cenpi
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X101,809,192 - 101,860,935 (+)NCBIGRCr8
mRatBN7.2X97,515,919 - 97,567,671 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX97,515,972 - 97,567,657 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX99,190,524 - 99,241,792 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X102,700,326 - 102,751,618 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X100,203,727 - 100,255,009 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X105,147,045 - 105,198,798 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX105,147,153 - 105,198,797 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X105,039,923 - 105,090,804 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,786,667 - 121,837,546 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X121,860,099 - 121,910,978 (+)NCBI
CeleraX98,557,884 - 98,609,121 (+)NCBICelera
Cytogenetic MapXq32NCBI
Cenpi
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555037,237,080 - 7,341,702 (+)NCBIChiLan1.0ChiLan1.0
CENPI
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X100,696,625 - 100,765,308 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X100,699,991 - 100,768,912 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X90,299,867 - 90,366,294 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X100,434,703 - 100,501,745 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,438,622 - 100,501,041 (+)Ensemblpanpan1.1panPan2
CENPI
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,035,147 - 75,112,991 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,035,141 - 75,211,971 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,449,036 - 76,529,170 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX76,448,989 - 76,529,011 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X74,017,250 - 74,097,403 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X75,677,561 - 75,757,982 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X75,440,090 - 75,520,225 (+)NCBIUU_Cfam_GSD_1.0
Cenpi
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,230,229 - 63,303,962 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936813172,894 - 244,881 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936813171,187 - 224,442 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CENPI
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,776,447 - 82,825,655 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,776,375 - 82,826,651 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X90,692,350 - 90,742,559 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CENPI
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,434,711 - 89,502,782 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX89,437,651 - 89,504,340 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606514,357,290 - 14,426,270 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cenpi
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248148,820,811 - 8,823,072 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249021,391,144 - 1,500,323 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CENPI
21 total Variants

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: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 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 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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23		 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 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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25		 pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3		 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 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 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: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: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)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 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 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: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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23		 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 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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23		 pathogenic
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 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3		 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: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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23		 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 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 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 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
GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1		 uncertain significance
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 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 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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:71267-155234036)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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 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 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1		 likely 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: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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2		 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: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
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 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 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23		 pathogenic|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|uncertain significance
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 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 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 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 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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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
Single allele duplication Autism [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 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_001386188.2(CENPI):c.28G>A (p.Val10Ile) single nucleotide variant not provided [RCV000920841] ChrX:101101098 [GRCh38]
ChrX:100356087 [GRCh37]
ChrX:Xq22.1		 benign
GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4 copy number gain not provided [RCV000996091] ChrX:100183898..100809683 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_001386188.2(CENPI):c.497G>A (p.Arg166His) single nucleotide variant Premature ovarian insufficiency [RCV000766168]|not provided [RCV003432762] ChrX:101109904 [GRCh38]
ChrX:100364893 [GRCh37]
ChrX:Xq22.1		 likely benign|uncertain significance
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 Xq22.1(chrX:98987165-100421459)x2 copy number gain not provided [RCV000848726] ChrX:98987165..100421459 [GRCh37]
ChrX:Xq22.1		 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
GRCh37/hg19 Xq22.1(chrX:99943376-100476729)x2 copy number gain not provided [RCV000849738] ChrX:99943376..100476729 [GRCh37]
ChrX:Xq22.1		 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 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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001386188.2(CENPI):c.2042A>G (p.Asn681Ser) single nucleotide variant not provided [RCV001572819] ChrX:101148109 [GRCh38]
ChrX:100403098 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001386188.2(CENPI):c.826G>A (p.Val276Met) single nucleotide variant not provided [RCV000910386] ChrX:101127186 [GRCh38]
ChrX:100382175 [GRCh37]
ChrX:Xq22.1		 benign
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 Xq22.1(chrX:100074893-100454200)x3 copy number gain not provided [RCV001007328] ChrX:100074893..100454200 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 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
NC_000023.10:g.(?_99551275)_(101097764_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV003109223]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NC_000023.10:g.(?_99917153)_(100662891_?)dup duplication Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001871045] ChrX:99917153..100662891 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 copy number gain not provided [RCV001834163] ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99842716-100570618) copy number gain not specified [RCV002053163] ChrX:99842716..100570618 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_99551275)_(100663464_?)del deletion Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672] ChrX:99551275..100663464 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.2074G>A (p.Ala692Thr) single nucleotide variant Inborn genetic diseases [RCV003255103] ChrX:101148141 [GRCh38]
ChrX:100403130 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100118775-100510437)x2 copy number gain not provided [RCV002475861] ChrX:100118775..100510437 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.938T>C (p.Leu313Pro) single nucleotide variant Inborn genetic diseases [RCV002882619] ChrX:101127529 [GRCh38]
ChrX:100382518 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.2257A>G (p.Asn753Asp) single nucleotide variant Inborn genetic diseases [RCV002783356] ChrX:101162953 [GRCh38]
ChrX:100417942 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.2015G>C (p.Gly672Ala) single nucleotide variant Inborn genetic diseases [RCV002874756] ChrX:101148082 [GRCh38]
ChrX:100403071 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.523A>C (p.Ile175Leu) single nucleotide variant Inborn genetic diseases [RCV002718704] ChrX:101109930 [GRCh38]
ChrX:100364919 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.1365C>A (p.Phe455Leu) single nucleotide variant Inborn genetic diseases [RCV002724534] ChrX:101132267 [GRCh38]
ChrX:100387256 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.1659C>A (p.Asn553Lys) single nucleotide variant Inborn genetic diseases [RCV003212259] ChrX:101145157 [GRCh38]
ChrX:100400146 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.253G>T (p.Asp85Tyr) single nucleotide variant Inborn genetic diseases [RCV003378216] ChrX:101102300 [GRCh38]
ChrX:100357289 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.1991A>G (p.Asp664Gly) single nucleotide variant Inborn genetic diseases [RCV003366401] ChrX:101148058 [GRCh38]
ChrX:100403047 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100078029-100451296)x2 copy number gain not provided [RCV003483970] ChrX:100078029..100451296 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.1083T>C (p.Ser361=) single nucleotide variant not provided [RCV003432229] ChrX:101128724 [GRCh38]
ChrX:100383713 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_001386188.2(CENPI):c.1195+6A>G single nucleotide variant not provided [RCV003432230] ChrX:101128842 [GRCh38]
ChrX:100383831 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.447C>T (p.Ser149=) single nucleotide variant not provided [RCV003432228] ChrX:101109555 [GRCh38]
ChrX:100364544 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_001386188.2(CENPI):c.163G>C (p.Glu55Gln) single nucleotide variant Inborn genetic diseases [RCV003360208] ChrX:101101233 [GRCh38]
ChrX:100356222 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 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
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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
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 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 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
NC_000023.10:g.(?_99551275)_(101097764_?)del deletion not provided [RCV003113386] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_001386188.2(CENPI):c.644A>G (p.Lys215Arg) single nucleotide variant Inborn genetic diseases [RCV002883596] ChrX:101120741 [GRCh38]
ChrX:100375730 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.402C>G (p.Ile134Met) single nucleotide variant Inborn genetic diseases [RCV002701826] ChrX:101109510 [GRCh38]
ChrX:100364499 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.584A>C (p.Asp195Ala) single nucleotide variant Inborn genetic diseases [RCV002712824] ChrX:101109991 [GRCh38]
ChrX:100364980 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_001386188.2(CENPI):c.1832G>A (p.Arg611His) single nucleotide variant Inborn genetic diseases [RCV003219723] ChrX:101147768 [GRCh38]
ChrX:100402757 [GRCh37]
ChrX:Xq22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1365
Count of miRNA genes:580
Interacting mature miRNAs:649
Transcripts:ENST00000218507, ENST00000372926, ENST00000372927, ENST00000403304, ENST00000423383, ENST00000435570
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D6S1615  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p11.2UniSTS
Cytogenetic MapXq22.1UniSTS
Marshfield Genetic Map644.96UniSTS
Marshfield Genetic Map644.96RGD
Genethon Genetic Map644.9UniSTS
DXS1257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,368,823 - 100,368,923UniSTSGRCh37
Build 36X100,255,479 - 100,255,579RGDNCBI36
CeleraX100,887,590 - 100,887,690RGD
Cytogenetic MapXq22.1UniSTS
HuRefX90,171,983 - 90,172,083UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
D6S1615  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map2p11.2UniSTS


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 90 5 26 22 529 24 232 48 82 51 167 198 9 2
Low 1574 1095 242 170 624 130 2586 498 800 154 996 590 47 1 716 1634 4 1
Below cutoff 773 1829 1427 411 743 291 1523 1627 2840 205 295 818 119 488 1139

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK302986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF204027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG114761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ224168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA736853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M78295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372926   ⟹   ENSP00000362017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,100,437 - 101,141,293 (+)Ensembl
RefSeq Acc Id: ENST00000372927   ⟹   ENSP00000362018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,100,437 - 101,163,681 (+)Ensembl
RefSeq Acc Id: ENST00000403304   ⟹   ENSP00000384546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,098,218 - 101,101,295 (+)Ensembl
RefSeq Acc Id: ENST00000423383   ⟹   ENSP00000399274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,098,189 - 101,163,436 (+)Ensembl
RefSeq Acc Id: ENST00000435570   ⟹   ENSP00000409173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,098,221 - 101,101,205 (+)Ensembl
RefSeq Acc Id: ENST00000682095   ⟹   ENSP00000507927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,098,204 - 101,166,126 (+)Ensembl
RefSeq Acc Id: ENST00000682304   ⟹   ENSP00000507798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,098,204 - 101,101,159 (+)Ensembl
RefSeq Acc Id: ENST00000684367   ⟹   ENSP00000507595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,098,188 - 101,163,795 (+)Ensembl
RefSeq Acc Id: NM_001318521   ⟹   NP_001305450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,163,678 (+)NCBI
CHM1_1X100,246,258 - 100,312,461 (+)NCBI
T2T-CHM13v2.0X99,541,624 - 99,607,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318523   ⟹   NP_001305452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,101,058 - 101,141,290 (+)NCBI
CHM1_1X100,249,135 - 100,290,082 (+)NCBI
T2T-CHM13v2.0X99,544,481 - 99,585,373 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386188   ⟹   NP_001373117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
T2T-CHM13v2.0X99,541,624 - 99,610,207 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006733   ⟹   NP_006724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,099,809 - 101,163,673 (+)NCBI
GRCh37X100,353,178 - 100,418,667 (+)NCBI
Build 36X100,241,454 - 100,304,634 (+)NCBI Archive
CeleraX100,873,565 - 100,936,744 (+)RGD
HuRefX90,157,955 - 90,222,098 (+)RGD
CHM1_1X100,247,886 - 100,312,461 (+)NCBI
T2T-CHM13v2.0X99,543,232 - 99,607,755 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262111   ⟹   XP_005262168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
GRCh37X100,353,178 - 100,418,667 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530895   ⟹   XP_011529197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029383   ⟹   XP_016884872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,181,859 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441947   ⟹   XP_047297903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441948   ⟹   XP_047297904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441949   ⟹   XP_047297905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441950   ⟹   XP_047297906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441951   ⟹   XP_047297907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441952   ⟹   XP_047297908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441953   ⟹   XP_047297909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441954   ⟹   XP_047297910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441955   ⟹   XP_047297911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,166,126 (+)NCBI
RefSeq Acc Id: XM_047441956   ⟹   XP_047297912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,098,204 - 101,137,963 (+)NCBI
RefSeq Acc Id: XM_054326740   ⟹   XP_054182715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,624 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326741   ⟹   XP_054182716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,576 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326742   ⟹   XP_054182717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,564 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326743   ⟹   XP_054182718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,624 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326744   ⟹   XP_054182719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,624 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326745   ⟹   XP_054182720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,587 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326746   ⟹   XP_054182721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,564 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326747   ⟹   XP_054182722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,624 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326748   ⟹   XP_054182723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,576 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326749   ⟹   XP_054182724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,608 - 99,610,207 (+)NCBI
RefSeq Acc Id: XM_054326750   ⟹   XP_054182725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,624 - 99,625,927 (+)NCBI
RefSeq Acc Id: XM_054326751   ⟹   XP_054182726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,541,595 - 99,581,402 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001305450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305452 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373117 (Get FASTA)   NCBI Sequence Viewer  
  NP_006724 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262168 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529197 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884872 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297903 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297904 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297905 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297906 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297907 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297908 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297909 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297910 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297911 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297912 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182717 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182718 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182719 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182720 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182721 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182722 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182723 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182724 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182725 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182726 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12462 (Get FASTA)   NCBI Sequence Viewer  
  BAG64126 (Get FASTA)   NCBI Sequence Viewer  
  CAA65884 (Get FASTA)   NCBI Sequence Viewer  
  CAD34792 (Get FASTA)   NCBI Sequence Viewer  
  EAX02840 (Get FASTA)   NCBI Sequence Viewer  
  EAX02841 (Get FASTA)   NCBI Sequence Viewer  
  EAX02842 (Get FASTA)   NCBI Sequence Viewer  
  EAX02843 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362017
  ENSP00000362017.1
  ENSP00000362018.1
  ENSP00000384546.2
  ENSP00000399274
  ENSP00000399274.2
  ENSP00000409173.1
  ENSP00000507595
  ENSP00000507595.1
  ENSP00000507798.1
  ENSP00000507927
  ENSP00000507927.1
GenBank Protein Q92674 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006724   ⟸   NM_006733
- Peptide Label: isoform 1
- UniProtKB: Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262168   ⟸   XM_005262111
- Peptide Label: isoform X1
- UniProtKB: Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529197   ⟸   XM_011530895
- Peptide Label: isoform X1
- UniProtKB: Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305450   ⟸   NM_001318521
- Peptide Label: isoform 2
- UniProtKB: B4DZL4 (UniProtKB/TrEMBL),   A0A8C8KX99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305452   ⟸   NM_001318523
- Peptide Label: isoform 3
- UniProtKB: Q92674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884872   ⟸   XM_017029383
- Peptide Label: isoform X3
- UniProtKB: B4DZL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000399274   ⟸   ENST00000423383
RefSeq Acc Id: ENSP00000362017   ⟸   ENST00000372926
RefSeq Acc Id: ENSP00000362018   ⟸   ENST00000372927
RefSeq Acc Id: ENSP00000384546   ⟸   ENST00000403304
RefSeq Acc Id: ENSP00000409173   ⟸   ENST00000435570
RefSeq Acc Id: NP_001373117   ⟸   NM_001386188
- Peptide Label: isoform 1
- UniProtKB: Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000507595   ⟸   ENST00000684367
RefSeq Acc Id: ENSP00000507798   ⟸   ENST00000682304
RefSeq Acc Id: ENSP00000507927   ⟸   ENST00000682095
RefSeq Acc Id: XP_047297907   ⟸   XM_047441951
- Peptide Label: isoform X1
- UniProtKB: Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297911   ⟸   XM_047441955
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297906   ⟸   XM_047441950
- Peptide Label: isoform X1
- UniProtKB: Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297904   ⟸   XM_047441948
- Peptide Label: isoform X1
- UniProtKB: Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297910   ⟸   XM_047441954
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297905   ⟸   XM_047441949
- Peptide Label: isoform X1
- UniProtKB: Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297903   ⟸   XM_047441947
- Peptide Label: isoform X1
- UniProtKB: Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   Q96ED0 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297908   ⟸   XM_047441952
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297909   ⟸   XM_047441953
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297912   ⟸   XM_047441956
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054182717   ⟸   XM_054326742
- Peptide Label: isoform X1
- UniProtKB: Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182721   ⟸   XM_054326746
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182716   ⟸   XM_054326741
- Peptide Label: isoform X1
- UniProtKB: Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182723   ⟸   XM_054326748
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182720   ⟸   XM_054326745
- Peptide Label: isoform X1
- UniProtKB: Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182726   ⟸   XM_054326751
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054182724   ⟸   XM_054326749
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182725   ⟸   XM_054326750
- Peptide Label: isoform X3
- UniProtKB: B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182719   ⟸   XM_054326744
- Peptide Label: isoform X1
- UniProtKB: Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182718   ⟸   XM_054326743
- Peptide Label: isoform X1
- UniProtKB: Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182722   ⟸   XM_054326747
- Peptide Label: isoform X2
- UniProtKB: A0A8C8KX99 (UniProtKB/TrEMBL),   B4DZL4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182715   ⟸   XM_054326740
- Peptide Label: isoform X1
- UniProtKB: Q96ED0 (UniProtKB/Swiss-Prot),   Q92674 (UniProtKB/Swiss-Prot),   Q5JWZ9 (UniProtKB/Swiss-Prot),   B4DZL4 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92674-F1-model_v2 AlphaFold Q92674 1-756 view protein structure

Promoters
RGD ID:6808570
Promoter ID:HG_KWN:67489
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000403304,   OTTHUMT00000057517,   OTTHUMT00000057518
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,239,481 - 100,239,981 (+)MPROMDB
RGD ID:6808571
Promoter ID:HG_KWN:67490
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000218507,   ENST00000372926,   ENST00000372927,   NM_006733,   UC004EGY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,242,501 - 100,243,001 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3968 AgrOrtholog
COSMIC CENPI COSMIC
Ensembl Genes ENSG00000102384 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372926 ENTREZGENE
  ENST00000372926.5 UniProtKB/Swiss-Prot
  ENST00000372927.5 UniProtKB/Swiss-Prot
  ENST00000403304.6 UniProtKB/TrEMBL
  ENST00000423383 ENTREZGENE
  ENST00000423383.3 UniProtKB/TrEMBL
  ENST00000435570.1 UniProtKB/TrEMBL
  ENST00000682095 ENTREZGENE
  ENST00000682095.1 UniProtKB/Swiss-Prot
  ENST00000682304.1 UniProtKB/TrEMBL
  ENST00000684367 ENTREZGENE
  ENST00000684367.1 UniProtKB/Swiss-Prot
GTEx ENSG00000102384 GTEx
HGNC ID HGNC:3968 ENTREZGENE
Human Proteome Map CENPI Human Proteome Map
InterPro CENP-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2491 UniProtKB/Swiss-Prot
NCBI Gene 2491 ENTREZGENE
OMIM 300065 OMIM
PANTHER CENTROMERE PROTEIN I UniProtKB/Swiss-Prot
  CENTROMERE PROTEIN I UniProtKB/Swiss-Prot
  CENTROMERE PROTEIN I UniProtKB/TrEMBL
  CENTROMERE PROTEIN I UniProtKB/TrEMBL
Pfam CENP-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28385 PharmGKB
UniProt A0A804HK71_HUMAN UniProtKB/TrEMBL
  A0A8C8KX99 ENTREZGENE, UniProtKB/TrEMBL
  B4DZL4 ENTREZGENE, UniProtKB/TrEMBL
  CENPI_HUMAN UniProtKB/Swiss-Prot
  Q5JWZ9 ENTREZGENE
  Q5JX01_HUMAN UniProtKB/TrEMBL
  Q5JX02_HUMAN UniProtKB/TrEMBL
  Q92674 ENTREZGENE
  Q96ED0 ENTREZGENE
UniProt Secondary Q5JWZ9 UniProtKB/Swiss-Prot
  Q96ED0 UniProtKB/Swiss-Prot