GTPBP6 (GTP binding protein 6 (putative)) - Rat Genome Database

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Gene: GTPBP6 (GTP binding protein 6 (putative)) Homo sapiens
Analyze
Symbol: GTPBP6
Name: GTP binding protein 6 (putative)
RGD ID: 1353569
HGNC Page HGNC:30189
Description: Predicted to enable ribosome binding activity. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ20977; FLJ22809; FLJ56662; FLJ56805; FLJ90047; PGPL; pseudoautosomal GTP-binding protein-like; putative GTP-binding protein 6; putative GTP-binding protein 6-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y304,759 - 318,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X304,759 - 318,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY304,529 - 318,796 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX304,529 - 318,796 (-)EnsemblGRCh38hg38GRCh38
GRCh37X221,426 - 230,887 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y171,426 - 180,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X161,426 - 170,887 (-)NCBINCBI36Build 36hg18NCBI36
Build 36Y161,426 - 170,887 (-)NCBINCBI36Build 36hg18NCBI36
Build 34Y161,425 - 170,887NCBI
CeleraX784,280 - 819,319 (+)NCBICelera
Cytogenetic MapX;YNCBI
CHM1_1X204,984 - 214,451 (-)NCBICHM1_1
T2T-CHM13v2.0X132,988 - 149,851 (-)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0Y132,137 - 148,937 (-)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
cytoplasm  (IBA)

Molecular Function

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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8125298   PMID:9466997   PMID:11731500   PMID:14702039   PMID:15146197   PMID:17347996   PMID:21873635   PMID:26186194   PMID:26496610   PMID:26972000   PMID:28514442   PMID:28611215  
PMID:28712724   PMID:29117863   PMID:29509190   PMID:30021884   PMID:30554943   PMID:31527615   PMID:31871319   PMID:32513696   PMID:32877691   PMID:33264405   PMID:33545068   PMID:33961781  
PMID:34079125   PMID:34135319   PMID:35748872   PMID:35914814   PMID:35944360  


Genomics

Comparative Map Data
GTPBP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y304,759 - 318,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X304,759 - 318,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY304,529 - 318,796 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX304,529 - 318,796 (-)EnsemblGRCh38hg38GRCh38
GRCh37X221,426 - 230,887 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y171,426 - 180,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X161,426 - 170,887 (-)NCBINCBI36Build 36hg18NCBI36
Build 36Y161,426 - 170,887 (-)NCBINCBI36Build 36hg18NCBI36
Build 34Y161,425 - 170,887NCBI
CeleraX784,280 - 819,319 (+)NCBICelera
Cytogenetic MapX;YNCBI
CHM1_1X204,984 - 214,451 (-)NCBICHM1_1
T2T-CHM13v2.0X132,988 - 149,851 (-)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0Y132,137 - 148,937 (-)NCBIT2T-CHM13v2.0
Gtpbp6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395110,251,842 - 110,256,063 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5110,251,841 - 110,256,063 (-)EnsemblGRCm39 Ensembl
GRCm385110,103,976 - 110,108,331 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5110,103,975 - 110,108,197 (-)EnsemblGRCm38mm10GRCm38
MGSCv375110,532,996 - 110,537,216 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365110,344,281 - 110,348,169 (-)NCBIMGSCv36mm8
Celera5107,230,450 - 107,234,671 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.3NCBI
Gtpbp6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81252,234,646 - 52,238,578 (+)NCBIGRCr8
mRatBN7.21246,574,913 - 46,578,873 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1246,574,435 - 46,578,873 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1247,751,181 - 47,755,040 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01248,356,580 - 48,360,439 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01247,417,104 - 47,420,963 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01252,637,000 - 52,640,869 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1252,637,000 - 52,640,839 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1252,670,898 - 52,674,737 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01254,373,897 - 54,377,766 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41246,722,131 - 46,726,000 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11246,589,062 - 46,592,902 (+)NCBI
Celera1248,130,798 - 48,134,675 (+)NCBICelera
Cytogenetic Map12q16NCBI
Gtpbp6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955499585,338 - 591,993 (-)NCBIChiLan1.0ChiLan1.0
LOC100969322
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X112,976 - 126,173 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1-v2Y46,857,149 - 46,871,958 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X116,640 - 129,818 (-)NCBINHGRI_mPanPan1
NHGRI_mPanPan1Y82,708 - 95,822 (-)NCBINHGRI_mPanPan1
GTPBP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X324,576 - 349,926 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX324,244 - 337,221 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX66,158 - 88,002 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X33,104 - 54,892 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX42,842 - 55,210 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X35,607 - 47,655 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X45,792 - 59,621 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X36,770 - 58,387 (-)NCBIUU_Cfam_GSD_1.0
Gtpbp6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404953155,490 - 163,762 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366444,213,953 - 4,221,253 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110257936
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1Y6,985,633 - 6,999,844 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GTPBP6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366605661,674 - 72,808 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gtpbp6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624834273,425 - 281,488 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624834272,883 - 281,443 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 Xp22.33-22.32(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 Xp22.33-22.31(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 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 Xp22.33(chrX:10679-803222)x1 copy number loss See cases [RCV000051208] ChrX:10679..803222 [GRCh38]
ChrX:60679..763957 [GRCh37]
ChrX:679..683957 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-868396)x1 copy number loss See cases [RCV000050661] ChrX:10679..868396 [GRCh38]
ChrX:60679..803877 [GRCh37]
ChrX:679..749131 [NCBI36]
ChrX:Xp22.33		 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 Xp22.33-11.22(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 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 Yp11.32-11.2(chrY:259759-736434)x3 copy number gain See cases [RCV000134581] ChrY:259759..736434 [GRCh38]
ChrY:126426..647169 [GRCh37]
ChrY:116426..617169 [NCBI36]
ChrY:Yp11.32-11.2		 benign
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 Xp22.33-21.1(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 Xp22.33-22.31(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(chrX:259759-736434)x3 copy number gain See cases [RCV000134532] ChrX:259759..736434 [GRCh38]
ChrX:176426..697169 [GRCh37]
ChrX:116426..617169 [NCBI36]
ChrX:Xp22.33		 benign
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 Xp22.33-11.21(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 Xp22.33-22.12(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
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 Yp11.32-11.31(chrY:10679-309069)x0 copy number loss See cases [RCV000051764] ChrY:10679..309069 [GRCh38]
ChrY:10679..175736 [GRCh37]
ChrY:679..165736 [NCBI36]
ChrY:Yp11.32-11.31		 pathogenic
GRCh38/hg38 Yp11.32-11.2(chrY:10679-1127669)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051765]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051765]|See cases [RCV000051765] ChrY:10679..1127669 [GRCh38]
ChrY:10679..1177822 [GRCh37]
ChrY:679..1147822 [NCBI36]
ChrY:Yp11.32-11.2		 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:21267-820336)x3 copy number gain See cases [RCV000140487] ChrX:21267..820336 [GRCh38]
ChrX:71267..781071 [GRCh37]
ChrX:11267..701071 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33(chrX:309149-516712)x3 copy number gain See cases [RCV000140497] ChrX:309149..516712 [GRCh38]
ChrX:225816..477447 [GRCh37]
ChrX:165816..397447 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Yp11.32-11.31(chrY:259759-404595)x1 copy number loss See cases [RCV000140567] ChrY:259759..404595 [GRCh38]
ChrY:126426..315330 [GRCh37]
ChrY:116426..285330 [NCBI36]
ChrY:Yp11.32-11.31		 likely 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:285058-876672)x3 copy number gain See cases [RCV000140884] ChrX:285058..876672 [GRCh38]
ChrX:201725..837407 [GRCh37]
ChrX:141725..757407 [NCBI36]
ChrX:Xp22.33		 uncertain significance
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 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-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 Xp22.33-22.31(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-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 Xp22.33-11.22(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 Yp11.31-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 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
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 Xp22.33-22.31(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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 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-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-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33(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 Xp22.33-21.1(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:10701-813813)x3 copy number gain See cases [RCV000138657] ChrX:10701..813813 [GRCh38]
ChrX:60701..774548 [GRCh37]
ChrX:701..694548 [NCBI36]
ChrX:Xp22.33		 uncertain significance
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 Xp22.33-11.1(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
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1056
Count of miRNA genes:642
Interacting mature miRNAs:705
Transcripts:ENST00000326153, ENST00000400701, ENST00000485332
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
UniSTS:99581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X221,455 - 221,616UniSTSGRCh37
GRCh37Y171,455 - 171,616UniSTSGRCh37
Build 36X161,455 - 161,616RGDNCBI36
CeleraX819,129 - 819,290RGD
SHGC-143507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y176,181 - 176,509UniSTSGRCh37
GRCh37X226,181 - 226,509UniSTSGRCh37
Build 36X166,181 - 166,509RGDNCBI36
DXYS142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X1,762,757 - 1,762,972UniSTSGRCh37
GRCh37Y1,712,757 - 1,712,972UniSTSGRCh37
Build 36X1,722,757 - 1,722,972RGDNCBI36
CeleraX812,476 - 812,664UniSTS
CeleraX6,036,769 - 6,036,984RGD
Stanford-G3 RH MapY119.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2431 2860 1721 620 1852 462 4354 2158 3689 412 1445 1605 171 1204 2788 3
Low 1 124 2 2 96 2 1 35 19 6 3 3 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK024630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG437484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX000483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN356690 (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
  CX758592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN997384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO681518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000326153   ⟹   ENSP00000316598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX304,759 - 318,796 (-)Ensembl
RefSeq Acc Id: ENST00000485332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX304,529 - 312,463 (-)Ensembl
RefSeq Acc Id: ENST00000711232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY304,529 - 312,463 (-)Ensembl
RefSeq Acc Id: ENST00000711233   ⟹   ENSP00000518626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY304,759 - 318,796 (-)Ensembl
RefSeq Acc Id: NM_012227   ⟹   NP_036359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y304,759 - 318,796 (-)NCBI
GRCh38X304,759 - 318,796 (-)NCBI
GRCh37X221,426 - 230,887 (-)ENTREZGENE
GRCh37Y171,426 - 180,887 (-)NCBI
Build 36X161,426 - 170,887 (-)NCBI Archive
Build 36Y161,426 - 170,887 (-)NCBI Archive
CHM1_1X204,975 - 214,451 (-)NCBI
T2T-CHM13v2.0X132,988 - 149,851 (-)NCBI
T2T-CHM13v2.0Y132,137 - 148,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442543   ⟹   XP_047298499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X304,759 - 318,796 (-)NCBI
RefSeq Acc Id: XM_047442544   ⟹   XP_047298500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X304,759 - 318,796 (-)NCBI
RefSeq Acc Id: XM_047442545   ⟹   XP_047298501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X304,759 - 318,796 (-)NCBI
RefSeq Acc Id: XM_047442546   ⟹   XP_047298502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X304,759 - 316,905 (-)NCBI
RefSeq Acc Id: XM_047442759   ⟹   XP_047298715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y304,759 - 318,796 (-)NCBI
RefSeq Acc Id: XM_047442760   ⟹   XP_047298716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y304,759 - 318,796 (-)NCBI
RefSeq Acc Id: XM_047442761   ⟹   XP_047298717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y304,759 - 318,796 (-)NCBI
RefSeq Acc Id: XM_047442762   ⟹   XP_047298718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y304,759 - 316,845 (-)NCBI
RefSeq Acc Id: XM_054327927   ⟹   XP_054183902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X132,988 - 149,851 (-)NCBI
RefSeq Acc Id: XM_054327928   ⟹   XP_054183903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X132,988 - 149,851 (-)NCBI
RefSeq Acc Id: XM_054327929   ⟹   XP_054183904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X132,988 - 147,970 (-)NCBI
RefSeq Acc Id: XM_054328363   ⟹   XP_054184338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y132,137 - 148,937 (-)NCBI
RefSeq Acc Id: XM_054328364   ⟹   XP_054184339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y132,137 - 148,937 (-)NCBI
RefSeq Acc Id: XM_054328365   ⟹   XP_054184340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y132,137 - 147,044 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036359   ⟸   NM_012227
- UniProtKB: Q53F77 (UniProtKB/Swiss-Prot),   Q5HYX8 (UniProtKB/Swiss-Prot),   O43824 (UniProtKB/Swiss-Prot),   H0Y2S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000316598   ⟸   ENST00000326153
RefSeq Acc Id: XP_047298499   ⟸   XM_047442543
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298501   ⟸   XM_047442545
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047298500   ⟸   XM_047442544
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047298502   ⟸   XM_047442546
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047298715   ⟸   XM_047442759
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298717   ⟸   XM_047442761
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047298716   ⟸   XM_047442760
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047298718   ⟸   XM_047442762
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183902   ⟸   XM_054327927
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183903   ⟸   XM_054327928
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054183904   ⟸   XM_054327929
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054184338   ⟸   XM_054328363
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184339   ⟸   XM_054328364
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054184340   ⟸   XM_054328365
- Peptide Label: isoform X5
RefSeq Acc Id: ENSP00000518626   ⟸   ENST00000711233
Protein Domains
Hflx-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43824-F1-model_v2 AlphaFold O43824 1-516 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30189 AgrOrtholog
COSMIC GTPBP6 COSMIC
Ensembl Genes ENSG00000178605 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000292358 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000326153 ENTREZGENE
  ENST00000326153.10 UniProtKB/Swiss-Prot
  ENST00000711233 ENTREZGENE
  ENST00000711233.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.11060 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000178605 GTEx
  ENSG00000292358 GTEx
HGNC ID HGNC:30189 ENTREZGENE
Human Proteome Map GTPBP6 Human Proteome Map
InterPro G_HFLX_dom UniProtKB/Swiss-Prot
  GTP-bd_M UniProtKB/Swiss-Prot
  GTP_binding_domain UniProtKB/Swiss-Prot
  GTPase_HflX UniProtKB/Swiss-Prot
  GTPase_HflX_N UniProtKB/Swiss-Prot
  GTPase_HflX_N_sf UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:8225 UniProtKB/Swiss-Prot
NCBI Gene 8225 ENTREZGENE
OMIM 300124 OMIM
PANTHER GTP-BINDING PROTEIN 6-RELATED UniProtKB/Swiss-Prot
  PTHR10229 UniProtKB/Swiss-Prot
Pfam GTP-bdg_M UniProtKB/Swiss-Prot
  GTP-bdg_N UniProtKB/Swiss-Prot
  MMR_HSR1 UniProtKB/Swiss-Prot
PharmGKB PA128394538 PharmGKB
PROSITE G_HFLX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt GTPB6_HUMAN UniProtKB/Swiss-Prot
  H0Y2S1 ENTREZGENE
  O43824 ENTREZGENE
  Q53F77 ENTREZGENE
  Q5HYX8 ENTREZGENE
UniProt Secondary H0Y2S1 UniProtKB/Swiss-Prot
  Q53F77 UniProtKB/Swiss-Prot
  Q5HYX8 UniProtKB/Swiss-Prot