XKR9 (XK related 9) - Rat Genome Database

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Gene: XKR9 (XK related 9) Homo sapiens
Analyze
Symbol: XKR9
Name: XK related 9
RGD ID: 1604439
HGNC Page HGNC:20937
Description: Predicted to enable phospholipid scramblase activity. Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in cell periphery and membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hXKR9; X Kell blood group precursor-related family, member 9; X-linked Kx blood group related 9; XK, Kell blood group complex subunit-related family, member 9; XK-related protein 9; XRG9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38870,669,339 - 71,065,805 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl870,669,339 - 70,790,371 (+)EnsemblGRCh38hg38GRCh38
GRCh37871,581,574 - 71,648,177 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36871,744,154 - 71,810,731 (+)NCBINCBI36Build 36hg18NCBI36
Celera867,579,235 - 67,644,725 (+)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef867,074,347 - 67,141,404 (+)NCBIHuRef
CHM1_1871,637,118 - 71,702,619 (+)NCBICHM1_1
T2T-CHM13v2.0871,099,221 - 71,495,619 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:22504420   PMID:27005419   PMID:34263724  


Genomics

Comparative Map Data
XKR9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38870,669,339 - 71,065,805 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl870,669,339 - 70,790,371 (+)EnsemblGRCh38hg38GRCh38
GRCh37871,581,574 - 71,648,177 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36871,744,154 - 71,810,731 (+)NCBINCBI36Build 36hg18NCBI36
Celera867,579,235 - 67,644,725 (+)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef867,074,347 - 67,141,404 (+)NCBIHuRef
CHM1_1871,637,118 - 71,702,619 (+)NCBICHM1_1
T2T-CHM13v2.0871,099,221 - 71,495,619 (+)NCBIT2T-CHM13v2.0
Xkr9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39113,738,962 - 13,772,454 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl113,738,995 - 13,771,947 (+)EnsemblGRCm39 Ensembl
GRCm38113,668,738 - 13,702,230 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl113,668,771 - 13,701,723 (+)EnsemblGRCm38mm10GRCm38
MGSCv37113,658,852 - 13,691,804 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36113,653,985 - 13,686,937 (+)NCBIMGSCv36mm8
Celera113,624,640 - 13,659,712 (+)NCBICelera
Cytogenetic Map1A3NCBI
cM Map14.31NCBI
Xkr9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8510,316,510 - 10,345,253 (-)NCBIGRCr8
mRatBN7.255,530,384 - 5,562,168 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl55,533,416 - 5,562,168 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx57,670,939 - 7,699,700 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.059,309,847 - 9,338,590 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.059,001,013 - 9,029,756 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.054,946,332 - 4,975,436 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl54,946,006 - 4,975,436 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.054,914,209 - 4,948,129 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.454,733,198 - 4,763,409 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.154,733,198 - 4,763,409 (-)NCBI
Celera55,118,209 - 5,146,740 (-)NCBICelera
Cytogenetic Map5q11NCBI
Xkr9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554449,025,635 - 9,053,775 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554449,027,662 - 9,059,911 (-)NCBIChiLan1.0ChiLan1.0
XKR9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2786,402,957 - 86,954,506 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1862,032,406 - 62,583,893 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0867,194,689 - 67,259,983 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1868,855,081 - 68,920,235 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl868,855,081 - 68,920,235 (+)Ensemblpanpan1.1panPan2
XKR9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12919,709,517 - 19,794,811 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2919,753,291 - 19,794,747 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2919,969,019 - 20,054,217 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02919,806,810 - 19,892,306 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2919,851,731 - 19,893,054 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12919,844,319 - 19,929,436 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02919,910,946 - 19,996,054 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02920,191,844 - 20,277,096 (+)NCBIUU_Cfam_GSD_1.0
Xkr9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530359,442,277 - 59,459,975 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366481,573 - 5,784 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366481,607 - 5,784 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XKR9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl464,679,170 - 64,707,710 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1464,678,734 - 64,727,495 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2470,309,649 - 70,341,116 (-)NCBISscrofa10.2Sscrofa10.2susScr3
XKR9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1866,406,484 - 66,463,500 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl866,441,550 - 66,463,496 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603974,954,790 - 75,022,625 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in XKR9
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1 copy number loss See cases [RCV000050801] Chr8:68488015..71476177 [GRCh38]
Chr8:69400250..72388412 [GRCh37]
Chr8:69562804..72550966 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
NM_001011720.1(XKR9):c.816C>G (p.Ile272Met) single nucleotide variant Malignant melanoma [RCV000061829] Chr8:70734118 [GRCh38]
Chr8:71646353 [GRCh37]
Chr8:71808907 [NCBI36]
Chr8:8q13.3
not provided
NM_001011720.1(XKR9):c.*99T>A single nucleotide variant Lung cancer [RCV000107649] Chr8:70734523 [GRCh38]
Chr8:71646758 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1 copy number loss See cases [RCV000134801] Chr8:68987881..71640028 [GRCh38]
Chr8:69900116..72552263 [GRCh37]
Chr8:70062670..72714817 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.3(chr8:70625656-70804655)x1 copy number loss See cases [RCV000137676] Chr8:70625656..70804655 [GRCh38]
Chr8:71537891..71716890 [GRCh37]
Chr8:71700445..71879444 [NCBI36]
Chr8:8q13.3
uncertain significance
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1 copy number loss See cases [RCV000138251] Chr8:68987835..71663466 [GRCh38]
Chr8:69900070..72575701 [GRCh37]
Chr8:70062624..72738255 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.11:g.70911483G>C single nucleotide variant Lung cancer [RCV000107650] Chr8:70911483 [GRCh38]
Chr8:71823718 [GRCh37]
Chr8:8q13.3
uncertain significance
NC_000008.11:g.70951988A>G single nucleotide variant Lung cancer [RCV000107651] Chr8:70951988 [GRCh38]
Chr8:71864223 [GRCh37]
Chr8:8q13.3
uncertain significance
NC_000008.11:g.70982660A>T single nucleotide variant Lung cancer [RCV000107652] Chr8:70982660 [GRCh38]
Chr8:71894895 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 copy number gain See cases [RCV000053655] Chr8:70948393..74353284 [GRCh38]
Chr8:71860628..75265519 [GRCh37]
Chr8:72023182..75428074 [NCBI36]
Chr8:8q13.3-21.11
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1 copy number loss See cases [RCV000240421] Chr8:69955127..72552241 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000446721] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71077789-72943097)x3 copy number gain See cases [RCV000446539] Chr8:71077789..72943097 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.3(chr8:71549662-71647145)x3 copy number gain See cases [RCV000448894] Chr8:71549662..71647145 [GRCh37]
Chr8:8q13.3
likely benign
GRCh37/hg19 8q13.3(chr8:71608781-71646728) copy number loss Abnormal esophagus morphology [RCV000416725] Chr8:71608781..71646728 [GRCh37]
Chr8:8q13.3
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000510185] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001011720.2(XKR9):c.351A>C (p.Gln117His) single nucleotide variant Inborn genetic diseases [RCV003280315] Chr8:70707011 [GRCh38]
Chr8:71619246 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.674T>A (p.Phe225Tyr) single nucleotide variant Inborn genetic diseases [RCV003290301] Chr8:70733976 [GRCh38]
Chr8:71646211 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.3(chr8:71198990-71920676)x1 copy number loss See cases [RCV000512294] Chr8:71198990..71920676 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71525694-71835493)x3 copy number gain not provided [RCV000682969] Chr8:71525694..71835493 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71619168-71663110)x3 copy number gain not provided [RCV000747639] Chr8:71619168..71663110 [GRCh37]
Chr8:8q13.3
benign
NM_001011720.2(XKR9):c.547C>T (p.Gln183Ter) single nucleotide variant not provided [RCV000964301] Chr8:70733849 [GRCh38]
Chr8:71646084 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3 copy number gain not provided [RCV001006112] Chr8:70848713..71632067 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71475270-71849895)x1 copy number loss not provided [RCV000846385] Chr8:71475270..71849895 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:71244655-71685822)x3 copy number gain not provided [RCV001258414] Chr8:71244655..71685822 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1 copy number loss not provided [RCV001827961] Chr8:69894553..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645) copy number loss not specified [RCV002053771] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
NM_001011720.2(XKR9):c.535A>G (p.Thr179Ala) single nucleotide variant Inborn genetic diseases [RCV003304034] Chr8:70733837 [GRCh38]
Chr8:71646072 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.908C>G (p.Thr303Ser) single nucleotide variant Inborn genetic diseases [RCV003264648] Chr8:70734210 [GRCh38]
Chr8:71646445 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.290A>G (p.Lys97Arg) single nucleotide variant Inborn genetic diseases [RCV002884142] Chr8:70706950 [GRCh38]
Chr8:71619185 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.787T>C (p.Tyr263His) single nucleotide variant Inborn genetic diseases [RCV002734040] Chr8:70734089 [GRCh38]
Chr8:71646324 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.314A>C (p.Lys105Thr) single nucleotide variant Inborn genetic diseases [RCV002737706] Chr8:70706974 [GRCh38]
Chr8:71619209 [GRCh37]
Chr8:8q13.3
likely benign
NM_001011720.2(XKR9):c.204G>C (p.Lys68Asn) single nucleotide variant Inborn genetic diseases [RCV002978482] Chr8:70681262 [GRCh38]
Chr8:71593497 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.260G>A (p.Gly87Glu) single nucleotide variant Inborn genetic diseases [RCV002713824] Chr8:70681318 [GRCh38]
Chr8:71593553 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.737C>T (p.Ala246Val) single nucleotide variant Inborn genetic diseases [RCV002812398] Chr8:70734039 [GRCh38]
Chr8:71646274 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.1000C>T (p.Leu334Phe) single nucleotide variant Inborn genetic diseases [RCV002896132] Chr8:70734302 [GRCh38]
Chr8:71646537 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.499G>A (p.Ala167Thr) single nucleotide variant Inborn genetic diseases [RCV002963766] Chr8:70733801 [GRCh38]
Chr8:71646036 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.358C>A (p.Leu120Ile) single nucleotide variant Inborn genetic diseases [RCV002988108] Chr8:70707018 [GRCh38]
Chr8:71619253 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.479C>T (p.Ala160Val) single nucleotide variant Inborn genetic diseases [RCV002722435] Chr8:70707139 [GRCh38]
Chr8:71619374 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.305C>A (p.Ala102Glu) single nucleotide variant Inborn genetic diseases [RCV003199041] Chr8:70706965 [GRCh38]
Chr8:71619200 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.3(chr8:71556060-71631858)x1 copy number loss not provided [RCV003483031] Chr8:71556060..71631858 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001011720.2(XKR9):c.599G>A (p.Cys200Tyr) single nucleotide variant not provided [RCV003423938] Chr8:70733901 [GRCh38]
Chr8:71646136 [GRCh37]
Chr8:8q13.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1055
Count of miRNA genes:680
Interacting mature miRNAs:751
Transcripts:ENST00000408926, ENST00000519350, ENST00000520030, ENST00000520092, ENST00000520273
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 5 1 1 2 1 2 29 14
Low 447 184 846 267 487 256 1046 128 819 202 747 640 23 125 491 6 1
Below cutoff 1760 2077 818 318 1011 178 2742 1684 2782 203 651 871 142 1 944 1879

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001011720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY534247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000408926   ⟹   ENSP00000386141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,669,339 - 70,735,942 (+)Ensembl
RefSeq Acc Id: ENST00000519350   ⟹   ENSP00000428904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,670,573 - 70,681,325 (+)Ensembl
RefSeq Acc Id: ENST00000520030   ⟹   ENSP00000431088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,669,398 - 70,734,490 (+)Ensembl
RefSeq Acc Id: ENST00000520092   ⟹   ENSP00000430781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,669,365 - 70,734,491 (+)Ensembl
RefSeq Acc Id: ENST00000520273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,669,408 - 70,790,371 (+)Ensembl
RefSeq Acc Id: NM_001011720   ⟹   NP_001011720
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,735,942 (+)NCBI
GRCh37871,581,600 - 71,648,177 (+)RGD
Build 36871,744,154 - 71,810,731 (+)NCBI Archive
Celera867,579,235 - 67,644,725 (+)RGD
HuRef867,074,347 - 67,141,404 (+)RGD
CHM1_1871,637,118 - 71,702,619 (+)NCBI
T2T-CHM13v2.0871,099,246 - 71,164,543 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287258   ⟹   NP_001274187
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,735,942 (+)NCBI
HuRef867,074,347 - 67,141,404 (+)NCBI
CHM1_1871,637,118 - 71,702,619 (+)NCBI
T2T-CHM13v2.0871,099,246 - 71,164,543 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287259   ⟹   NP_001274188
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,735,942 (+)NCBI
HuRef867,074,347 - 67,141,404 (+)NCBI
CHM1_1871,637,118 - 71,702,619 (+)NCBI
T2T-CHM13v2.0871,099,246 - 71,164,543 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287260   ⟹   NP_001274189
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,735,942 (+)NCBI
HuRef867,074,347 - 67,141,404 (+)NCBI
CHM1_1871,637,200 - 71,702,619 (+)NCBI
T2T-CHM13v2.0871,099,246 - 71,164,543 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517524   ⟹   XP_011515826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,735,942 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517525   ⟹   XP_011515827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,735,942 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517526   ⟹   XP_011515828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,713,577 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517527   ⟹   XP_011515829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 71,065,805 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013404   ⟹   XP_016868893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,678,368 - 70,735,942 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013405   ⟹   XP_016868894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,339 - 70,729,323 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054360456   ⟹   XP_054216431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,099,251 - 71,164,543 (+)NCBI
RefSeq Acc Id: XM_054360457   ⟹   XP_054216432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,099,221 - 71,164,543 (+)NCBI
RefSeq Acc Id: XM_054360458   ⟹   XP_054216433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,107,190 - 71,164,543 (+)NCBI
RefSeq Acc Id: XM_054360459   ⟹   XP_054216434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,099,246 - 71,142,186 (+)NCBI
RefSeq Acc Id: XM_054360460   ⟹   XP_054216435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,099,246 - 71,495,619 (+)NCBI
RefSeq Acc Id: XM_054360461   ⟹   XP_054216436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0871,099,246 - 71,157,780 (+)NCBI
RefSeq Acc Id: NP_001011720   ⟸   NM_001011720
- Peptide Label: isoform 2
- UniProtKB: B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot),   Q5GH70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274188   ⟸   NM_001287259
- Peptide Label: isoform 2
- UniProtKB: B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot),   Q5GH70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274187   ⟸   NM_001287258
- Peptide Label: isoform 1
- UniProtKB: Q5GH70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274189   ⟸   NM_001287260
- Peptide Label: isoform 2
- UniProtKB: B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot),   Q5GH70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515829   ⟸   XM_011517527
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515826   ⟸   XM_011517524
- Peptide Label: isoform X1
- UniProtKB: B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot),   Q5GH70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515828   ⟸   XM_011517526
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515827   ⟸   XM_011517525
- Peptide Label: isoform X1
- UniProtKB: B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot),   Q5GH70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868894   ⟸   XM_017013405
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016868893   ⟸   XM_017013404
- Peptide Label: isoform X1
- UniProtKB: B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot),   Q5GH70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000428904   ⟸   ENST00000519350
RefSeq Acc Id: ENSP00000431088   ⟸   ENST00000520030
RefSeq Acc Id: ENSP00000430781   ⟸   ENST00000520092
RefSeq Acc Id: ENSP00000386141   ⟸   ENST00000408926
RefSeq Acc Id: XP_054216432   ⟸   XM_054360457
- Peptide Label: isoform X1
- UniProtKB: Q5GH70 (UniProtKB/Swiss-Prot),   B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216435   ⟸   XM_054360460
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216436   ⟸   XM_054360461
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216434   ⟸   XM_054360459
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216431   ⟸   XM_054360456
- Peptide Label: isoform X1
- UniProtKB: Q5GH70 (UniProtKB/Swiss-Prot),   B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216433   ⟸   XM_054360458
- Peptide Label: isoform X1
- UniProtKB: Q5GH70 (UniProtKB/Swiss-Prot),   B2RNS9 (UniProtKB/Swiss-Prot),   B9EH74 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5GH70-F1-model_v2 AlphaFold Q5GH70 1-373 view protein structure

Promoters
RGD ID:7213501
Promoter ID:EPDNEW_H12496
Type:initiation region
Name:XKR9_1
Description:XK related 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12493  EPDNEW_H12494  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,669,373 - 70,669,433EPDNEW
RGD ID:6806832
Promoter ID:HG_KWN:61489
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000276590,   NM_001011720,   UC010LZD.1,   UC010LZE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36871,743,286 - 71,744,017 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20937 AgrOrtholog
COSMIC XKR9 COSMIC
Ensembl Genes ENSG00000221947 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000408926 ENTREZGENE
  ENST00000408926.8 UniProtKB/Swiss-Prot
  ENST00000519350.1 UniProtKB/TrEMBL
  ENST00000520030 ENTREZGENE
  ENST00000520030.5 UniProtKB/Swiss-Prot
  ENST00000520092.5 UniProtKB/TrEMBL
GTEx ENSG00000221947 GTEx
HGNC ID HGNC:20937 ENTREZGENE
Human Proteome Map XKR9 Human Proteome Map
InterPro XK-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389668 UniProtKB/Swiss-Prot
NCBI Gene 389668 ENTREZGENE
PANTHER XK-RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XK-RELATED PROTEIN 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam XK-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670567 PharmGKB
UniProt B2RNS9 ENTREZGENE
  B9EH74 ENTREZGENE
  E5RFF6_HUMAN UniProtKB/TrEMBL
  E5RI45_HUMAN UniProtKB/TrEMBL
  Q5GH70 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RNS9 UniProtKB/Swiss-Prot
  B9EH74 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 XKR9  XK related 9    X-linked Kx blood group related 9  Symbol and/or name change 5135510 APPROVED
2015-11-24 XKR9  X-linked Kx blood group related 9    XK, Kell blood group complex subunit-related family, member 9  Symbol and/or name change 5135510 APPROVED