MAGIX (MAGI family member, X-linked) - Rat Genome Database

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Gene: MAGIX (MAGI family member, X-linked) Homo sapiens
Analyze
Symbol: MAGIX
Name: MAGI family member, X-linked
RGD ID: 1605344
HGNC Page HGNC
Description: ASSOCIATED WITH autistic disorder; congenital disorder of glycosylation type IIm; neurodegeneration with brain iron accumulation 5; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-phenylprop-2-enal; acrylamide
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ21687; JM10; MGC138889; PDZ domain containing protein; PDZ domain containing, X chromosome; PDZ domain-containing protein MAGIX; PDZX
RGD Orthologs
Mouse
Rat
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
GRCh38.p13 EnsemblX49,162,564 - 49,168,483 (+)EnsemblGRCh38hg38GRCh38
GRCh38X49,162,843 - 49,168,157 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,019,181 - 49,024,496 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,906,125 - 48,910,780 (+)NCBINCBI36hg18NCBI36
CeleraX52,640,533 - 52,645,188 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,676,683 - 46,681,194 (+)NCBIHuRef
CHM1_1X49,051,538 - 49,056,852 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:26186194   PMID:28514442   PMID:29987050   PMID:30021884   PMID:31343991  


Genomics

Comparative Map Data
MAGIX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,162,564 - 49,168,483 (+)EnsemblGRCh38hg38GRCh38
GRCh38X49,162,843 - 49,168,157 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,019,181 - 49,024,496 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,906,125 - 48,910,780 (+)NCBINCBI36hg18NCBI36
CeleraX52,640,533 - 52,645,188 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,676,683 - 46,681,194 (+)NCBIHuRef
CHM1_1X49,051,538 - 49,056,852 (+)NCBICHM1_1
Magix
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,539,405 - 7,547,490 (-)NCBIGRCm39mm39
GRCm39 EnsemblX7,539,403 - 7,547,490 (-)Ensembl
GRCm38X7,673,166 - 7,681,251 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,673,164 - 7,681,251 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,250,292 - 7,258,215 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X6,831,586 - 6,838,006 (-)NCBImm8
CeleraX3,789,488 - 3,797,663 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.46NCBI
Magix
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,824,114 - 14,832,466 (+)NCBI
Rnor_6.0 EnsemblX15,669,191 - 15,676,050 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,669,191 - 15,676,051 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,460,417 - 16,467,277 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,865,047 - 26,871,907 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,907,513 - 14,914,379 (+)NCBICelera
Cytogenetic MapXq12NCBI
LOC612555
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,267,054 - 42,269,303 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,266,715 - 42,269,300 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,644,645 - 16,648,491 (+)NCBI
Magix
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,799,077 - 34,805,365 (+)NCBI
SpeTri2.0NW_0049367211,039,098 - 1,044,286 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAGIX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,207,054 - 43,211,628 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,206,680 - 43,212,889 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X48,054,641 - 48,059,583 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MAGIX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,260,076 - 46,264,187 (+)NCBI
ChlSab1.1 EnsemblX46,260,137 - 46,263,687 (+)Ensembl
Magix
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893906,203 - 909,555 (+)NCBI

Position Markers
RH77979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,020,924 - 49,021,072UniSTSGRCh37
Build 36X48,907,868 - 48,908,016RGDNCBI36
CeleraX52,643,297 - 52,643,445RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,678,283 - 46,678,431UniSTS
GeneMap99-GB4 RH MapX147.27UniSTS
SHGC-57082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,022,601 - 49,022,755UniSTSGRCh37
Build 36X48,909,545 - 48,909,699RGDNCBI36
CeleraX52,641,614 - 52,641,768RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,679,959 - 46,680,113UniSTS
TNG Radiation Hybrid MapX12497.0UniSTS
RH70282  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX52,642,201 - 52,642,363RGD
Cytogenetic MapXp11.23UniSTS
GeneMap99-GB4 RH MapX147.27UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4726
Count of miRNA genes:1202
Interacting mature miRNAs:1516
Transcripts:ENST00000376338, ENST00000376339, ENST00000412696, ENST00000415364, ENST00000425285, ENST00000425661, ENST00000454342, ENST00000458388, ENST00000498742
Prediction methods:Microtar, 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.


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 52 2 9 3 1 3 406 1 6 8
Low 2249 2609 1466 428 1259 270 3884 1928 3187 170 1185 1425 170 1036 2613 3
Below cutoff 50 372 8 1 503 1 434 265 71 11 69 30 168 175 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000454342   ⟹   ENSP00000400147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,164,544 - 49,166,223 (+)Ensembl
RefSeq Acc Id: ENST00000595224   ⟹   ENSP00000471299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,162,890 - 49,166,632 (+)Ensembl
RefSeq Acc Id: ENST00000612119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,163,996 - 49,166,213 (+)Ensembl
RefSeq Acc Id: ENST00000614074   ⟹   ENSP00000484729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,162,874 - 49,166,399 (+)Ensembl
RefSeq Acc Id: ENST00000614322   ⟹   ENSP00000479878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,162,677 - 49,166,214 (+)Ensembl
RefSeq Acc Id: ENST00000615626   ⟹   ENSP00000479023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,162,843 - 49,166,632 (+)Ensembl
RefSeq Acc Id: ENST00000615915   ⟹   ENSP00000484294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,163,932 - 49,166,632 (+)Ensembl
RefSeq Acc Id: ENST00000616266   ⟹   ENSP00000481198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,162,564 - 49,168,483 (+)Ensembl
RefSeq Acc Id: ENST00000616812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,162,665 - 49,166,632 (+)Ensembl
RefSeq Acc Id: NM_001099681   ⟹   NP_001093151
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,162,843 - 49,168,157 (+)NCBI
GRCh37X49,019,181 - 49,023,836 (+)RGD
Build 36X48,906,125 - 48,910,780 (+)NCBI Archive
CeleraX52,640,533 - 52,645,188 (-)RGD
HuRefX46,676,683 - 46,681,854 (+)NCBI
CHM1_1X49,051,538 - 49,056,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001099682   ⟹   NP_001093152
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,162,843 - 49,168,157 (+)NCBI
GRCh37X49,019,181 - 49,023,836 (+)RGD
Build 36X48,906,125 - 48,910,780 (+)NCBI Archive
CeleraX52,640,533 - 52,645,188 (-)RGD
HuRefX46,676,683 - 46,681,854 (+)NCBI
CHM1_1X49,051,538 - 49,056,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024859   ⟹   NP_079135
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,162,843 - 49,168,157 (+)NCBI
GRCh37X49,019,181 - 49,023,836 (+)RGD
Build 36X48,906,125 - 48,910,780 (+)NCBI Archive
CeleraX52,640,533 - 52,645,188 (-)RGD
HuRefX46,676,683 - 46,681,854 (+)NCBI
CHM1_1X49,051,538 - 49,056,852 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001093151   ⟸   NM_001099681
- Peptide Label: isoform c
- UniProtKB: Q9H6Y5 (UniProtKB/Swiss-Prot),   A0A087WUY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001093152   ⟸   NM_001099682
- Peptide Label: isoform d
- UniProtKB: Q9H6Y5 (UniProtKB/Swiss-Prot),   A0A087X263 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_079135   ⟸   NM_024859
- Peptide Label: isoform a
- UniProtKB: Q9H6Y5 (UniProtKB/Swiss-Prot),   A0A075B7A2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000471299   ⟸   ENST00000595224
RefSeq Acc Id: ENSP00000400147   ⟸   ENST00000454342
RefSeq Acc Id: ENSP00000479878   ⟸   ENST00000614322
RefSeq Acc Id: ENSP00000484729   ⟸   ENST00000614074
RefSeq Acc Id: ENSP00000484294   ⟸   ENST00000615915
RefSeq Acc Id: ENSP00000479023   ⟸   ENST00000615626
RefSeq Acc Id: ENSP00000481198   ⟸   ENST00000616266
Protein Domains
PDZ

Promoters
RGD ID:6808668
Promoter ID:HG_KWN:66747
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376339,   ENST00000399915,   NM_001099680,   NM_001099681,   NM_001099682,   NM_024859,   OTTHUMT00000083437,   OTTHUMT00000083439,   OTTHUMT00000083440,   UC004DMU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,907,006 - 48,908,337 (+)MPROMDB
RGD ID:6813817
Promoter ID:HG_ACW:83896
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:MAGIX.KAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,908,381 - 48,910,077 (+)MPROMDB
RGD ID:13605288
Promoter ID:EPDNEW_H28828
Type:initiation region
Name:MAGIX_1
Description:MAGI family member, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,162,871 - 49,162,931EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xp22.33-11.22(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-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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-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:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(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:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
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-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 Xp22.33-11.22(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-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xp22.33-11.23(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-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-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 Xp22.33-11.21(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-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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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-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: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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
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-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-11.21(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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 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 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 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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-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 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp22.33-11.22(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-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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-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:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30006 AgrOrtholog
COSMIC MAGIX COSMIC
Ensembl Genes ENSG00000269313 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000400147 UniProtKB/TrEMBL
  ENSP00000471299 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479023 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000479878 UniProtKB/TrEMBL
  ENSP00000481198 UniProtKB/Swiss-Prot
  ENSP00000484294 UniProtKB/TrEMBL
  ENSP00000484729 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000454342 UniProtKB/TrEMBL
  ENST00000595224 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000614074 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000614322 UniProtKB/TrEMBL
  ENST00000615626 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000615915 UniProtKB/TrEMBL
  ENST00000616266 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000269313 GTEx
HGNC ID HGNC:30006 ENTREZGENE
Human Proteome Map MAGIX Human Proteome Map
InterPro MAGIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79917 UniProtKB/Swiss-Prot
NCBI Gene 79917 ENTREZGENE
PANTHER PTHR47646 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162394882 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZ18_HUMAN UniProtKB/TrEMBL
  A0A075B7A2 ENTREZGENE
  A0A087WUY6 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WW28_HUMAN UniProtKB/TrEMBL
  A0A087X1L4_HUMAN UniProtKB/TrEMBL
  A0A087X263 ENTREZGENE, UniProtKB/TrEMBL
  C9J123_HUMAN UniProtKB/TrEMBL
  MAGIX_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A075B7A2 UniProtKB/Swiss-Prot
  A6XND4 UniProtKB/Swiss-Prot
  A8MSX9 UniProtKB/Swiss-Prot
  B7WP26 UniProtKB/Swiss-Prot
  Q14C81 UniProtKB/Swiss-Prot