CRLF2 (cytokine receptor like factor 2) - Rat Genome Database

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Gene: CRLF2 (cytokine receptor like factor 2) Homo sapiens
Analyze
Symbol: CRLF2
Name: cytokine receptor like factor 2
RGD ID: 1352132
HGNC Page HGNC:14281
Description: Enables coreceptor activity and cytokine receptor activity. Involved in several processes, including positive regulation of interleukin-5 production; positive regulation of mast cell activation; and positive regulation of receptor signaling pathway via STAT. Predicted to be located in plasma membrane. Predicted to be part of receptor complex. Predicted to be active in external side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CRL2; CRLF2Y; cytokine receptor CRL2 precusor; cytokine receptor-like 2; cytokine receptor-like factor 2; IL-XR; P2RY8/CRLF2 fusion; thymic stromal lymphopoietin protein receptor; thymic stromal lymphopoietin receptor; thymic stromal-derived lymphopoietin receptor; TSLP receptor; TSLPR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y1,190,490 - 1,212,649 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X1,190,490 - 1,212,649 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY1,190,490 - 1,212,723 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX1,190,490 - 1,212,723 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y1,264,869 - 1,281,542 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X1,314,869 - 1,331,542 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y1,274,894 - 1,291,529 (-)NCBINCBI36Build 36hg18NCBI36
Build 36X1,274,894 - 1,291,529 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX5,605,262 - 5,605,961 (-)NCBICelera
Cytogenetic MapX;YNCBI
CHM1_1X1,345,456 - 1,361,581 (-)NCBICHM1_1
T2T-CHM13v2.0X1,035,684 - 1,058,464 (-)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0Y1,050,430 - 1,072,677 (-)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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:10872831   PMID:11237741   PMID:11418668   PMID:11474172   PMID:11891057   PMID:14702039   PMID:17242164   PMID:17513717   PMID:19641190   PMID:19838194   PMID:19907440  
PMID:19965641   PMID:20018760   PMID:20096461   PMID:20109752   PMID:20128689   PMID:20139093   PMID:20236697   PMID:20378752   PMID:20466416   PMID:20483734   PMID:20663412   PMID:20807819  
PMID:20847213   PMID:20974963   PMID:21106984   PMID:21169835   PMID:21457190   PMID:21873635   PMID:21978707   PMID:22150304   PMID:22168549   PMID:22297722   PMID:22368272   PMID:22382891  
PMID:22441210   PMID:22484421   PMID:22851563   PMID:22915648   PMID:23091296   PMID:23145900   PMID:23804397   PMID:23974192   PMID:24018820   PMID:24231528   PMID:24356513   PMID:24667918  
PMID:24787007   PMID:24935070   PMID:25044358   PMID:25676453   PMID:26288354   PMID:26754556   PMID:26999524   PMID:27391346   PMID:27449287   PMID:27637012   PMID:28033648   PMID:28233860  
PMID:28371317   PMID:29402810   PMID:29413340   PMID:30123216   PMID:30487598   PMID:30535452   PMID:30578688   PMID:30588853   PMID:31290290   PMID:31318944   PMID:31418357   PMID:31830053  
PMID:33054468   PMID:33275800   PMID:33491417   PMID:33615710   PMID:33767403   PMID:33812392   PMID:33876219   PMID:33961781   PMID:34159401   PMID:34214466   PMID:34573368   PMID:34587248  
PMID:34857887   PMID:34987014   PMID:35253299   PMID:35306048   PMID:35537330   PMID:36642937   PMID:37364323   PMID:38862034  


Genomics

Comparative Map Data
CRLF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y1,190,490 - 1,212,649 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X1,190,490 - 1,212,649 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY1,190,490 - 1,212,723 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX1,190,490 - 1,212,723 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y1,264,869 - 1,281,542 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X1,314,869 - 1,331,542 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y1,274,894 - 1,291,529 (-)NCBINCBI36Build 36hg18NCBI36
Build 36X1,274,894 - 1,291,529 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX5,605,262 - 5,605,961 (-)NCBICelera
Cytogenetic MapX;YNCBI
CHM1_1X1,345,456 - 1,361,581 (-)NCBICHM1_1
T2T-CHM13v2.0X1,035,684 - 1,058,464 (-)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0Y1,050,430 - 1,072,677 (-)NCBIT2T-CHM13v2.0
Crlf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395109,702,575 - 109,707,301 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5109,702,575 - 109,706,859 (-)EnsemblGRCm39 Ensembl
GRCm385109,554,709 - 109,559,128 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5109,554,709 - 109,558,993 (-)EnsemblGRCm38mm10GRCm38
MGSCv375109,983,728 - 109,988,012 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365109,795,011 - 109,799,248 (-)NCBIMGSCv36mm8
Celera5106,655,703 - 106,673,432 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.24NCBI
Crlf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr814118,932 - 123,632 (+)NCBIGRCr8
mRatBN7.214103,943 - 108,643 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl14103,939 - 108,642 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx14121,877 - 126,551 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0141,423,652 - 1,428,326 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014120,324 - 124,998 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0141,456,843 - 1,461,543 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl141,456,844 - 1,461,543 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0141,459,624 - 1,464,324 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera14656,303 - 661,003 (-)NCBICelera
Cytogenetic Map14p22NCBI
Crlf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955499940,250 - 955,458 (-)NCBIChiLan1.0ChiLan1.0
LOC100981146
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2Y45,865,325 - 45,891,246 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1-v2X1,030,768 - 1,056,303 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X1,034,411 - 1,060,265 (-)NCBINHGRI_mPanPan1
NHGRI_mPanPan1Y1,063,595 - 1,089,386 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X933,459 - 957,950 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CRLF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X780,924 - 801,961 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX780,711 - 802,836 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX719,633 - 740,407 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X688,940 - 709,953 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX688,660 - 710,093 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X682,055 - 702,828 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X697,563 - 718,580 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X694,446 - 715,490 (-)NCBIUU_Cfam_GSD_1.0
Crlf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404953503,508 - 509,770 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366443,866,973 - 3,872,749 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110257900
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1Y4,965,886 - 4,992,529 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103247474
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_023666141213,570 - 241,034 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Crlf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624834596,067 - 610,333 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CRLF2
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 copy number gain See cases [RCV000052326] ChrX:40904..4469489 [GRCh38]
ChrX:90904..4387530 [GRCh37]
ChrX:30904..4397530 [NCBI36]
ChrX:Xp22.33-22.32		 pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3		 pathogenic
GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3 copy number gain See cases [RCV000052323] ChrX:26102..3730888 [GRCh38]
ChrX:76102..3648929 [GRCh37]
ChrX:16102..3658929 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0 copy number loss See cases [RCV000135637] ChrY:10679..13139461 [GRCh38]
ChrY:10679..15251375 [GRCh37]
ChrY:679..13760769 [NCBI36]
ChrY:Yp11.32-q11.221		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
NM_022148.4(CRLF2):c.406G>A (p.Val136Met) single nucleotide variant not specified [RCV000120616] ChrX:1202479 [GRCh38]
ChrY:1202479 [GRCh38]
ChrX:1321349 [GRCh37]
ChrY:1271349 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 not provided
NM_022148.4(CRLF2):c.637G>A (p.Glu213Lys) single nucleotide variant not specified [RCV000120617] ChrX:1198571 [GRCh38]
ChrY:1198571 [GRCh38]
ChrY:1267428 [GRCh37]
ChrX:1317428 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 not provided
NM_022148.4(CRLF2):c.730G>A (p.Val244Met) single nucleotide variant not specified [RCV000120618] ChrX:1196817 [GRCh38]
ChrY:1196817 [GRCh38]
ChrX:1314931 [GRCh37]
ChrY:1264931 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 not provided
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Yp11.32-11.2(chrY:10679-1339321)x0 copy number loss See cases [RCV000050918] ChrY:10679..1339321 [GRCh38]
ChrY:10679..1408214 [GRCh37]
ChrY:679..1418214 [NCBI36]
ChrY:Yp11.32-11.2		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33(chrX:795387-1499689)x3 copy number gain See cases [RCV000135104] ChrX:795387..1499689 [GRCh38]
ChrX:756122..1618582 [GRCh37]
ChrX:676122..1578582 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33(chrX:1123219-1202712)x3 copy number gain See cases [RCV000135128] ChrX:1123219..1202712 [GRCh38]
ChrX:1223372..1321581 [GRCh37]
ChrX:1143372..1281581 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Yp11.2(chrY:1123219-1202712)x3 copy number gain See cases [RCV000135129] ChrY:1123219..1202712 [GRCh38]
ChrY:1173372..1271581 [GRCh37]
ChrY:1143372..1281581 [NCBI36]
ChrY:Yp11.2		 benign
GRCh38/hg38 Xp22.33(chrX:1055101-1420616)x3 copy number gain See cases [RCV000135150] ChrX:1055101..1420616 [GRCh38]
ChrX:1015836..1539509 [GRCh37]
ChrX:935836..1499509 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Yp11.2(chrY:1055101-1420616)x3 copy number gain See cases [RCV000135151] ChrY:1055101..1420616 [GRCh38]
ChrY:965836..1489509 [GRCh37]
ChrY:935836..1499509 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Xp22.33(chrX:1202712-1228390)x3 copy number gain See cases [RCV000135153] ChrX:1202712..1228390 [GRCh38]
ChrX:1321581..1347283 [GRCh37]
ChrX:1281581..1307283 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33(chrX:820136-1397810)x3 copy number gain See cases [RCV000135271] ChrX:820136..1397810 [GRCh38]
ChrX:780871..1516703 [GRCh37]
ChrX:700871..1476703 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0 copy number loss See cases [RCV000135635] ChrX:10679..3758140 [GRCh38]
ChrX:60679..3676181 [GRCh37]
ChrX:679..3686181 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1059289-1549195)x3 copy number gain See cases [RCV000134790] ChrX:1059289..1549195 [GRCh38]
ChrX:1020024..1668088 [GRCh37]
ChrX:940024..1628088 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Yp11.31-11.2(chrY:302967-1581104)x0 copy number loss See cases [RCV000134810] ChrY:302967..1581104 [GRCh38]
ChrY:169634..1649997 [GRCh37]
ChrY:159634..1659997 [NCBI36]
ChrY:Yp11.31-11.2		 uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-1633117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053819]|See cases [RCV000053819] ChrX:10679..1633117 [GRCh38]
ChrX:60679..1752010 [GRCh37]
ChrX:679..1712010 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33(chrX:825835-1418665)x3 copy number gain See cases [RCV000133945] ChrX:825835..1418665 [GRCh38]
ChrX:786570..1537558 [GRCh37]
ChrX:706570..1497558 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
NM_022148.4(CRLF2):c.269A>G (p.Gln90Arg) single nucleotide variant not specified [RCV000120614] ChrX:1206513 [GRCh38]
ChrY:1206513 [GRCh38]
ChrX:1325406 [GRCh37]
ChrY:1275406 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 not provided
NM_022148.4(CRLF2):c.190G>A (p.Gly64Ser) single nucleotide variant not specified [RCV000120615] ChrX:1206592 [GRCh38]
ChrY:1206592 [GRCh38]
ChrY:1275485 [GRCh37]
ChrX:1325485 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 not provided
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 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 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 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:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1085618-1223133)x1 copy number loss See cases [RCV000139881] ChrX:1085618..1223133 [GRCh38]
ChrX:1118266..1342026 [GRCh37]
ChrX:1038266..1302026 [NCBI36]
ChrX:Xp22.33		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33(chrX:1027415-1702424)x3 copy number gain See cases [RCV000139885] ChrX:1027415..1702424 [GRCh38]
ChrX:988150..1821317 [GRCh37]
ChrX:908150..1781317 [NCBI36]
ChrY:908150..1781317 [NCBI36]
ChrX:Xp22.33
ChrY:Yp11.32-11.31		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33(chrX:1086932-1464861)x3 copy number gain See cases [RCV000140478] ChrX:1086932..1464861 [GRCh38]
ChrX:1110841..1583754 [GRCh37]
ChrX:1030841..1543754 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33(chrX:1055101-1228390)x3 copy number gain See cases [RCV000140483] ChrX:1055101..1228390 [GRCh38]
ChrX:1015836..1347283 [GRCh37]
ChrX:935836..1307283 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33(chrX:997890-1259698)x3 copy number gain See cases [RCV000140500] ChrX:997890..1259698 [GRCh38]
ChrX:958625..1378591 [GRCh37]
ChrX:878625..1338591 [NCBI36]
ChrX:Xp22.33		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 Xp22.33(chrX:1202712-1311821)x3 copy number gain See cases [RCV000140554] ChrX:1202712..1311821 [GRCh38]
ChrX:1321581..1430714 [GRCh37]
ChrX:1281581..1390714 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33(chrX:915816-1259698)x3 copy number gain See cases [RCV000140555] ChrX:915816..1259698 [GRCh38]
ChrX:876551..1378591 [GRCh37]
ChrX:796551..1338591 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Yp11.2(chrY:1086932-1464861)x3 copy number gain See cases [RCV000140654] ChrY:1086932..1464861 [GRCh38]
ChrY:1060841..1533754 [GRCh37]
ChrY:1030841..1543754 [NCBI36]
ChrY:Yp11.2		 benign
GRCh38/hg38 Yp11.2(chrY:1055101-1228390)x3 copy number gain See cases [RCV000140660] ChrY:1055101..1228390 [GRCh38]
ChrY:965836..1297283 [GRCh37]
ChrY:935836..1307283 [NCBI36]
ChrY:Yp11.2		 benign
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33(chrX:440936-1223133)x1 copy number loss See cases [RCV000140855] ChrX:440936..1223133 [GRCh38]
ChrX:401671..1342026 [GRCh37]
ChrX:321671..1302026 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
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 Xp22.33-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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 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 Xp22.33(chrX:21267-2299223)x1 copy number loss See cases [RCV000141399] ChrX:21267..2299223 [GRCh38]
ChrX:71267..2217264 [GRCh37]
ChrX:11267..2227264 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yp11.2(chrY:1000807-1223133)x1 copy number loss See cases [RCV000141632] ChrY:1000807..1223133 [GRCh38]
ChrY:911542..1292026 [GRCh37]
ChrY:881542..1302026 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Yp11.2(chrY:1112351-1702424)x3 copy number gain See cases [RCV000141635] ChrY:1112351..1702424 [GRCh38]
ChrY:1162504..1771317 [GRCh37]
ChrY:1132504..1781317 [NCBI36]
ChrY:Yp11.2		 uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2		 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 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1063677-1838017)x3 copy number gain See cases [RCV000142246] ChrX:1063677..1838017 [GRCh38]
ChrX:1024412..1956910 [GRCh37]
ChrX:944412..1916910 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 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 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 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1063704-1598200)x3 copy number gain See cases [RCV000143296] ChrX:1063704..1598200 [GRCh38]
ChrX:1024439..1717093 [GRCh37]
ChrX:944439..1677093 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Yp11.2(chrY:655725-1353033)x3 copy number gain See cases [RCV000143353] ChrY:655725..1353033 [GRCh38]
ChrY:566460..1421926 [GRCh37]
ChrY:536460..1431926 [NCBI36]
ChrY:Yp11.2		 uncertain significance
GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3 copy number gain See cases [RCV000143419] ChrY:301880..11680029 [GRCh38]
ChrY:168547..13800735 [GRCh37]
ChrY:158547..12310735 [NCBI36]
ChrY:Yp11.31-q11.21		 likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:868352-1308697)x4 copy number gain See cases [RCV000135776] ChrX:868352..1308697 [GRCh38]
ChrX:917876..1427590 [GRCh37]
ChrX:749087..1387590 [NCBI36]
ChrX:Xp22.33		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33(chrX:936345-1838841)x3 copy number gain See cases [RCV000135932] ChrX:936345..1838841 [GRCh38]
ChrX:917876..1957734 [GRCh37]
ChrX:817080..1917734 [NCBI36]
ChrX:Xp22.33		 pathogenic|likely benign
GRCh38/hg38 Xp22.33(chrX:936346-1308518)x3 copy number gain See cases [RCV000136027] ChrX:936346..1308518 [GRCh38]
ChrX:917876..1427411 [GRCh37]
ChrX:817081..1387411 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31		 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: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 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: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(chrX:10679-2777359)x1 copy number loss See cases [RCV000136867] ChrX:10679..2777359 [GRCh38]
ChrX:60679..2695400 [GRCh37]
ChrX:679..2705400 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23		 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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 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 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12		 uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1000807-1223133)x1 copy number loss See cases [RCV000137436] ChrX:1000807..1223133 [GRCh38]
ChrX:961542..1342026 [GRCh37]
ChrX:881542..1302026 [NCBI36]
ChrX:Xp22.33		 pathogenic|likely benign
GRCh38/hg38 Yp11.32-11.2(chrY:10001-1223133)x0 copy number loss See cases [RCV000137499] ChrY:10001..1223133 [GRCh38]
ChrY:10001..1292026 [GRCh37]
ChrY:1..1302026 [NCBI36]
ChrY:Yp11.32-11.2		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 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 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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 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 Yp11.32-q11.222(chrY:10701-17951506)x0 copy number loss See cases [RCV000137555] ChrY:10701..17951506 [GRCh38]
ChrY:10701..20063386 [GRCh37]
ChrY:701..18572780 [NCBI36]
ChrY:Yp11.32-q11.222		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1000807-1702424)x3 copy number gain See cases [RCV000137680] ChrX:1000807..1702424 [GRCh38]
ChrX:961542..1821317 [GRCh37]
ChrX:881542..1781317 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33(chrX:302942-1223133)x0 copy number loss See cases [RCV000137724] ChrX:302942..1223133 [GRCh38]
ChrX:219609..1342026 [GRCh37]
ChrX:159609..1302026 [NCBI36]
ChrX:Xp22.33		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1085618-1308663)x0 copy number loss See cases [RCV000137896] ChrX:1085618..1308663 [GRCh38]
ChrX:1118266..1427556 [GRCh37]
ChrX:1038266..1387556 [NCBI36]
ChrX:Xp22.33		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1		 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: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: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 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 Xp22.33(chrX:916820-1419770)x3 copy number gain See cases [RCV000138304] ChrX:916820..1419770 [GRCh38]
ChrX:917876..1538663 [GRCh37]
ChrX:797555..1498663 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33(chrX:1085618-1285905)x3 copy number gain See cases [RCV000138447] ChrX:1085618..1285905 [GRCh38]
ChrX:1118268..1404798 [GRCh37]
ChrX:1038268..1364798 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33(chrX:620976-1506411)x3 copy number gain See cases [RCV000139241] ChrX:620976..1506411 [GRCh38]
ChrX:581711..1625304 [GRCh37]
ChrX:501711..1585304 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Yp11.32-11.2(chrY:10701-1223133)x0 copy number loss See cases [RCV000139418] ChrY:10701..1223133 [GRCh38]
ChrY:10701..1292026 [GRCh37]
ChrY:701..1302026 [NCBI36]
ChrY:Yp11.32-11.2		 pathogenic
NM_022148.4(CRLF2):c.695T>G (p.Phe232Cys) single nucleotide variant Lymphoblastic leukemia, acute, with lymphomatous features [RCV000419749] ChrX:1196852 [GRCh38]
ChrY:1196852 [GRCh38]
ChrX:1314966 [GRCh37]
ChrY:1264966 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
Single allele duplication Autism [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11		 likely pathogenic
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1116864-1308697)x3 copy number gain Intellectual disability [RCV004776421] ChrX:1116864..1308697 [GRCh38]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1 copy number loss Intellectual disability [RCV004776398] ChrX:11091..10219826 [GRCh38]
ChrX:Xp22.33-22.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:980
Count of miRNA genes:415
Interacting mature miRNAs:441
Transcripts:ENST00000381566, ENST00000381567, ENST00000400841, ENST00000467626
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597501224GWAS1597298_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1597298 (human)1e-08severe acute respiratory syndrome, COVID-19X11943511194352Human

Markers in Region
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1142 2289 1987 1465 3034 1032 1897 2 392 1581 239 2126 4981 5030 50 2037 633 1245 1409 165

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001012288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB052639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC188046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF142570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF338733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY775789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX323853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX908382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP086569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS390622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS403716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM829053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN090297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB441732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD117897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH762800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000381566   ⟹   ENSP00000370978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,187,549 - 1,212,637 (-)Ensembl
Ensembl Acc Id: ENST00000381567   ⟹   ENSP00000370979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,190,897 - 1,212,634 (-)Ensembl
Ensembl Acc Id: ENST00000400841   ⟹   ENSP00000383641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,190,490 - 1,212,649 (-)Ensembl
Ensembl Acc Id: ENST00000467626   ⟹   ENSP00000485269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,190,492 - 1,212,723 (-)Ensembl
Ensembl Acc Id: ENST00000711254   ⟹   ENSP00000518625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,190,490 - 1,212,649 (-)Ensembl
Ensembl Acc Id: ENST00000711255   ⟹   ENSP00000518624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,190,492 - 1,212,723 (-)Ensembl
Ensembl Acc Id: ENST00000711256   ⟹   ENSP00000518623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,190,897 - 1,212,634 (-)Ensembl
RefSeq Acc Id: NM_001012288   ⟹   NP_001012288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,190,490 - 1,212,649 (-)NCBI
GRCh38X1,190,490 - 1,212,649 (-)NCBI
GRCh37X1,314,869 - 1,331,529 (-)ENTREZGENE
GRCh37Y1,264,869 - 1,281,529 (-)NCBI
Build 36X1,274,894 - 1,291,527 (-)NCBI Archive
Build 36Y1,274,894 - 1,291,527 (-)NCBI Archive
CHM1_1X1,345,456 - 1,361,668 (-)NCBI
T2T-CHM13v2.0X1,035,684 - 1,058,464 (-)NCBI
T2T-CHM13v2.0Y1,050,430 - 1,072,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022148   ⟹   NP_071431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,190,490 - 1,212,649 (-)NCBI
GRCh38X1,190,490 - 1,212,649 (-)NCBI
GRCh37X1,314,869 - 1,331,529 (-)ENTREZGENE
GRCh37Y1,264,869 - 1,281,529 (-)NCBI
Build 36X1,274,894 - 1,291,529 (-)NCBI Archive
Build 36Y1,274,894 - 1,291,529 (-)NCBI Archive
CHM1_1X1,345,456 - 1,361,668 (-)NCBI
T2T-CHM13v2.0X1,035,684 - 1,058,464 (-)NCBI
T2T-CHM13v2.0Y1,050,430 - 1,072,677 (-)NCBI
Sequence:
RefSeq Acc Id: NR_110830
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,190,490 - 1,212,649 (-)NCBI
GRCh38X1,190,490 - 1,212,649 (-)NCBI
CHM1_1X1,345,456 - 1,361,668 (-)NCBI
T2T-CHM13v2.0Y1,050,430 - 1,072,677 (-)NCBI
T2T-CHM13v2.0X1,035,684 - 1,058,464 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545634   ⟹   XP_011543936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,190,490 - 1,212,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011546181   ⟹   XP_011544483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,190,490 - 1,212,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054327570   ⟹   XP_054183545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,035,684 - 1,058,464 (-)NCBI
RefSeq Acc Id: XM_054328319   ⟹   XP_054184294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,050,430 - 1,072,677 (-)NCBI
RefSeq Acc Id: NP_001012288   ⟸   NM_001012288
- Peptide Label: isoform 2
- UniProtKB: Q9HC73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_071431   ⟸   NM_022148
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5G7M1 (UniProtKB/Swiss-Prot),   J3QKD1 (UniProtKB/Swiss-Prot),   Q9H5R3 (UniProtKB/Swiss-Prot),   Q9HC73 (UniProtKB/Swiss-Prot),   D0E2W4 (UniProtKB/TrEMBL),   Q53FI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544483   ⟸   XM_011546181
- Peptide Label: isoform X1
- UniProtKB: Q53FI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543936   ⟸   XM_011545634
- Peptide Label: isoform X1
- UniProtKB: Q53FI3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000485269   ⟸   ENST00000467626
Ensembl Acc Id: ENSP00000383641   ⟸   ENST00000400841
Ensembl Acc Id: ENSP00000370978   ⟸   ENST00000381566
Ensembl Acc Id: ENSP00000370979   ⟸   ENST00000381567
RefSeq Acc Id: XP_054183545   ⟸   XM_054327570
- Peptide Label: isoform X1
- UniProtKB: Q53FI3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184294   ⟸   XM_054328319
- Peptide Label: isoform X1
- UniProtKB: Q53FI3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000518625   ⟸   ENST00000711254
Ensembl Acc Id: ENSP00000518623   ⟸   ENST00000711256
Ensembl Acc Id: ENSP00000518624   ⟸   ENST00000711255
Protein Domains
Cytokine receptor-like factor 2-like   Cytokine receptor-like factor 2-like D2   Fibronectin type-III

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HC73-F1-model_v2 AlphaFold Q9HC73 1-371 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14281 AgrOrtholog
COSMIC CRLF2 COSMIC
Ensembl Genes ENSG00000205755 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000292363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381567 ENTREZGENE
  ENST00000381567.8 UniProtKB/Swiss-Prot
  ENST00000400841 ENTREZGENE
  ENST00000400841.8 UniProtKB/Swiss-Prot
  ENST00000467626 ENTREZGENE
  ENST00000467626.6 UniProtKB/TrEMBL
  ENST00000711254 ENTREZGENE
  ENST00000711254.1 UniProtKB/Swiss-Prot
  ENST00000711255 ENTREZGENE
  ENST00000711255.1 UniProtKB/TrEMBL
  ENST00000711256 ENTREZGENE
  ENST00000711256.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000205755 GTEx
  ENSG00000292363 GTEx
HGNC ID HGNC:14281 ENTREZGENE
Human Proteome Map CRLF2 Human Proteome Map
InterPro CRLF2-like_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSLPR_D1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64109 ENTREZGENE
OMIM 300357 OMIM
  400023 OMIM
PANTHER CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FIBRONECTIN TYPE-III DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIGH MOBILITY GROUP AT-HOOK 2 UniProtKB/TrEMBL
  PROTEIN GVQW1-RELATED UniProtKB/TrEMBL
Pfam CRLF2-like_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSLPR_D1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26883 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DH06_HUMAN UniProtKB/TrEMBL
  CRLF2_HUMAN UniProtKB/Swiss-Prot
  D0E2W4 ENTREZGENE, UniProtKB/TrEMBL
  J3QKD1 ENTREZGENE
  Q53FI3 ENTREZGENE, UniProtKB/TrEMBL
  Q5G7M1 ENTREZGENE
  Q9H5R3 ENTREZGENE
  Q9HC73 ENTREZGENE
UniProt Secondary J3QKD1 UniProtKB/Swiss-Prot
  Q5G7M1 UniProtKB/Swiss-Prot
  Q9H5R3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-16 CRLF2  cytokine receptor like factor 2    cytokine receptor-like factor 2  Symbol and/or name change 5135510 APPROVED