STARD8 (StAR related lipid transfer domain containing 8) - Rat Genome Database

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Gene: STARD8 (StAR related lipid transfer domain containing 8) Homo sapiens
Analyze
Symbol: STARD8
Name: StAR related lipid transfer domain containing 8
RGD ID: 1351860
HGNC Page HGNC
Description: Predicted to have GTPase activator activity. Predicted to be involved in actin cytoskeleton organization and regulation of Rho protein signal transduction. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARHGAP38; deleted in liver cancer 3 protein; DKFZp686H1668; DLC3; KIAA0189; StAR-related lipid transfer (START) domain containing 8; StAR-related lipid transfer domain containing 8; stAR-related lipid transfer protein 8; START domain containing 8; STARTGAP3
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
GRCh38.p13 EnsemblX68,647,666 - 68,725,842 (+)EnsemblGRCh38hg38GRCh38
GRCh38X68,647,666 - 68,725,842 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X67,867,508 - 67,945,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X67,784,236 - 67,862,403 (+)NCBINCBI36hg18NCBI36
Build 34X67,650,531 - 67,728,698NCBI
CeleraX68,220,334 - 68,298,611 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX61,695,452 - 61,772,608 (+)NCBIHuRef
CHM1_1X67,760,683 - 67,838,871 (+)NCBICHM1_1
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
cytosol  (TAS)
focal adhesion  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8724849   PMID:12477932   PMID:15489334   PMID:15772651   PMID:16685650   PMID:17297465   PMID:17517630   PMID:17976533   PMID:19913121   PMID:20628086   PMID:21873635   PMID:25673874  
PMID:27505894   PMID:29507755   PMID:31076513   PMID:32203420  


Genomics

Comparative Map Data
STARD8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX68,647,666 - 68,725,842 (+)EnsemblGRCh38hg38GRCh38
GRCh38X68,647,666 - 68,725,842 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X67,867,508 - 67,945,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X67,784,236 - 67,862,403 (+)NCBINCBI36hg18NCBI36
Build 34X67,650,531 - 67,728,698NCBI
CeleraX68,220,334 - 68,298,611 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX61,695,452 - 61,772,608 (+)NCBIHuRef
CHM1_1X67,760,683 - 67,838,871 (+)NCBICHM1_1
Stard8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X98,046,539 - 98,118,334 (+)NCBIGRCm39mm39
GRCm39 EnsemblX98,046,854 - 98,118,334 (+)Ensembl
GRCm38X99,002,933 - 99,074,728 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX99,003,248 - 99,074,728 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X96,237,920 - 96,270,067 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X95,245,384 - 95,277,447 (+)NCBImm8
CeleraX85,983,748 - 86,015,610 (+)NCBICelera
Cytogenetic MapXC3NCBI
Stard8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X64,079,079 - 64,196,052 (+)NCBI
Rnor_6.0 EnsemblX68,713,123 - 68,785,052 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X68,713,157 - 68,785,046 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X69,587,772 - 69,659,522 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X87,088,565 - 87,102,511 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX64,551,816 - 64,565,762 (+)NCBICelera
Cytogenetic MapXq22NCBI
Stard8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554758,245,754 - 8,278,319 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554758,203,624 - 8,278,319 (+)NCBIChiLan1.0ChiLan1.0
STARD8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X67,955,393 - 68,031,958 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX67,954,883 - 68,031,958 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X57,890,362 - 57,968,391 (+)NCBIMhudiblu_PPA_v0panPan3
STARD8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X53,128,122 - 53,211,115 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX53,128,095 - 53,210,852 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX43,953,760 - 44,036,713 (+)NCBI
ROS_Cfam_1.0X54,087,072 - 54,170,149 (+)NCBI
UMICH_Zoey_3.1X52,061,722 - 52,144,669 (+)NCBI
UNSW_CanFamBas_1.0X53,390,428 - 53,473,431 (+)NCBI
UU_Cfam_GSD_1.0X53,314,126 - 53,397,128 (+)NCBI
Stard8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X48,876,064 - 48,953,571 (-)NCBI
SpeTri2.0NW_004936777316,332 - 358,241 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STARD8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX54,773,171 - 54,856,713 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X54,773,189 - 54,856,716 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X61,989,481 - 62,001,599 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STARD8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X58,487,688 - 58,569,710 (+)NCBI
ChlSab1.1 EnsemblX58,556,806 - 58,566,551 (+)Ensembl
Stard8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248911,509,113 - 1,540,416 (-)NCBI

Position Markers
DXS7459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,874,893 - 67,875,002UniSTSGRCh37
Build 36X67,791,618 - 67,791,727RGDNCBI36
CeleraX68,227,716 - 68,227,825RGD
Cytogenetic MapXq13.1UniSTS
HuRefX61,702,344 - 61,702,453UniSTS
STS-AA027102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,945,569 - 67,945,669UniSTSGRCh37
Build 36X67,862,294 - 67,862,394RGDNCBI36
CeleraX68,298,496 - 68,298,596RGD
Cytogenetic MapXq13.1UniSTS
HuRefX61,772,493 - 61,772,593UniSTS
GeneMap99-GB4 RH MapX231.7UniSTS
NCBI RH MapX373.0UniSTS
RH25403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X67,945,133 - 67,945,239UniSTSGRCh37
Build 36X67,861,858 - 67,861,964RGDNCBI36
CeleraX68,298,060 - 68,298,166RGD
Cytogenetic MapXq13.1UniSTS
HuRefX61,772,057 - 61,772,163UniSTS
GeneMap99-GB4 RH MapX228.07UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8180
Count of miRNA genes:1431
Interacting mature miRNAs:1875
Transcripts:ENST00000252336, ENST00000374597, ENST00000374599, ENST00000488088, ENST00000523864
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 523 351 956 32 309 31 1427 404 966 239 513 1287 2 1193 736 2
Low 1843 2613 769 591 1307 432 2915 1788 2726 170 921 267 169 1 11 2052 4 2
Below cutoff 73 27 1 1 304 2 15 5 42 10 25 59 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK291747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ019015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D80011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252336   ⟹   ENSP00000252336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,647,669 - 68,725,840 (+)Ensembl
RefSeq Acc Id: ENST00000374597   ⟹   ENSP00000363725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,693,651 - 68,725,833 (+)Ensembl
RefSeq Acc Id: ENST00000374599   ⟹   ENSP00000363727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,647,768 - 68,725,836 (+)Ensembl
RefSeq Acc Id: ENST00000488088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,647,666 - 68,656,551 (+)Ensembl
RefSeq Acc Id: ENST00000523864   ⟹   ENSP00000428031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX68,647,669 - 68,725,842 (+)Ensembl
RefSeq Acc Id: NM_001142503   ⟹   NP_001135975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,647,666 - 68,725,836 (+)NCBI
GRCh37X67,867,511 - 67,945,684 (+)RGD
CeleraX68,220,334 - 68,298,611 (+)RGD
HuRefX61,695,452 - 61,772,608 (+)RGD
CHM1_1X67,760,683 - 67,838,871 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142504   ⟹   NP_001135976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,693,639 - 68,725,836 (+)NCBI
GRCh37X67,867,511 - 67,945,684 (+)RGD
CeleraX68,220,334 - 68,298,611 (+)RGD
HuRefX61,695,452 - 61,772,608 (+)RGD
CHM1_1X67,806,669 - 67,838,871 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014725   ⟹   NP_055540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,647,666 - 68,725,836 (+)NCBI
GRCh37X67,867,511 - 67,945,684 (+)RGD
Build 36X67,784,236 - 67,862,403 (+)NCBI Archive
CeleraX68,220,334 - 68,298,611 (+)RGD
HuRefX61,695,452 - 61,772,608 (+)RGD
CHM1_1X67,760,683 - 67,838,871 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262314   ⟹   XP_005262371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,647,695 - 68,725,842 (+)NCBI
GRCh37X67,867,511 - 67,945,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262315   ⟹   XP_005262372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,693,640 - 68,725,842 (+)NCBI
GRCh37X67,867,511 - 67,945,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531069   ⟹   XP_011529371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,686,483 - 68,725,842 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531070   ⟹   XP_011529372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,686,483 - 68,725,842 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001135975   ⟸   NM_001142503
- Peptide Label: isoform a
- UniProtKB: Q92502 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055540   ⟸   NM_014725
- Peptide Label: isoform b
- UniProtKB: Q92502 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135976   ⟸   NM_001142504
- Peptide Label: isoform b
- UniProtKB: Q92502 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262371   ⟸   XM_005262314
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005262372   ⟸   XM_005262315
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529372   ⟸   XM_011531070
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529371   ⟸   XM_011531069
- Peptide Label: isoform X2
- UniProtKB: Q92502 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000252336   ⟸   ENST00000252336
RefSeq Acc Id: ENSP00000363727   ⟸   ENST00000374599
RefSeq Acc Id: ENSP00000363725   ⟸   ENST00000374597
RefSeq Acc Id: ENSP00000428031   ⟸   ENST00000523864
Protein Domains
Rho-GAP   START

Promoters
RGD ID:6809292
Promoter ID:HG_KWN:67098
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_001142503,   OTTHUMT00000057024,   OTTHUMT00000057025
Position:
Human AssemblyChrPosition (strand)Source
Build 36X67,783,991 - 67,784,491 (+)MPROMDB
RGD ID:6813843
Promoter ID:HG_ACW:84163
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:STARD8.DAPR07,   STARD8.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X67,822,766 - 67,823,266 (+)MPROMDB
RGD ID:6809290
Promoter ID:HG_KWN:67099
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142504
Position:
Human AssemblyChrPosition (strand)Source
Build 36X67,830,116 - 67,830,627 (+)MPROMDB
RGD ID:6814837
Promoter ID:HG_XEF:8631
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001107849,   NM_199018
Position:
Human AssemblyChrPosition (strand)Source
Build 36X67,849,236 - 67,849,736 (+)MPROMDB
RGD ID:13627343
Promoter ID:EPDNEW_H28949
Type:initiation region
Name:STARD8_2
Description:StAR related lipid transfer domain containing 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28950  EPDNEW_H28951  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,647,663 - 68,647,723EPDNEW
RGD ID:13627347
Promoter ID:EPDNEW_H28950
Type:initiation region
Name:STARD8_1
Description:StAR related lipid transfer domain containing 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28949  EPDNEW_H28951  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,693,644 - 68,693,704EPDNEW
RGD ID:13627351
Promoter ID:EPDNEW_H28951
Type:multiple initiation site
Name:STARD8_3
Description:StAR related lipid transfer domain containing 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28949  EPDNEW_H28950  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X68,714,769 - 68,714,829EPDNEW

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
NM_014725.4(STARD8):c.-79-10343C>T single nucleotide variant Lung cancer [RCV000102739] ChrX:68702571 [GRCh38]
ChrX:67922413 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
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: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-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-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 Xq12-13.1(chrX:68126762-68820618)x3 copy number gain See cases [RCV000054200] ChrX:68126762..68820618 [GRCh38]
ChrX:67346604..68040461 [GRCh37]
ChrX:67263329..67957186 [NCBI36]
ChrX:Xq12-13.1
uncertain significance
GRCh38/hg38 Xq12-13.1(chrX:68441645-69382098)x3 copy number gain See cases [RCV000054202] ChrX:68441645..69382098 [GRCh38]
ChrX:67661487..68601941 [GRCh37]
ChrX:67578212..68518666 [NCBI36]
ChrX:Xq12-13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156013167)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: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-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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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 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-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-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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 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-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 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 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-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-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 Xq12-13.1(chrX:68277324-68861722)x1 copy number loss See cases [RCV000141866] ChrX:68277324..68861722 [GRCh38]
ChrX:67497166..68081565 [GRCh37]
ChrX:67413891..67998290 [NCBI36]
ChrX:Xq12-13.1
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3 copy number gain See cases [RCV000239973] ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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 Xq12-13.1(chrX:67501664-67882530)x4 copy number gain See cases [RCV000511316] ChrX:67501664..67882530 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-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-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 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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:67570138-68576809)x3 copy number gain See cases [RCV000446503] ChrX:67570138..68576809 [GRCh37]
ChrX:Xq12-13.1
likely 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 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq12-13.1(chrX:67637833-68628411)x3 copy number gain not provided [RCV000684342] ChrX:67637833..68628411 [GRCh37]
ChrX:Xq12-13.1
likely pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001142503.2(STARD8):c.1164A>G (p.Leu388=) single nucleotide variant not provided [RCV000882304] ChrX:68718078 [GRCh38]
ChrX:67937920 [GRCh37]
ChrX:Xq13.1
benign
NM_001142503.2(STARD8):c.739A>G (p.Ser247Gly) single nucleotide variant not provided [RCV000883542] ChrX:68717653 [GRCh38]
ChrX:67937495 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001142503.2(STARD8):c.2409G>A (p.Ala803=) single nucleotide variant not provided [RCV000976563] ChrX:68721696 [GRCh38]
ChrX:67941538 [GRCh37]
ChrX:Xq13.1
benign
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 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
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
NM_001142503.2(STARD8):c.1978C>T (p.Arg660Cys) single nucleotide variant not provided [RCV000932138] ChrX:68720352 [GRCh38]
ChrX:67940194 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001142503.2(STARD8):c.2488A>C (p.Arg830=) single nucleotide variant not provided [RCV000955613] ChrX:68722075 [GRCh38]
ChrX:67941917 [GRCh37]
ChrX:Xq13.1
benign
NM_001142503.2(STARD8):c.1284A>C (p.Glu428Asp) single nucleotide variant not provided [RCV000958322] ChrX:68718198 [GRCh38]
ChrX:67938040 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xq13.1(chrX:67822737-68635666)x3 copy number gain not provided [RCV001259001] ChrX:67822737..68635666 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19161 AgrOrtholog
COSMIC STARD8 COSMIC
Ensembl Genes ENSG00000130052 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000252336 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363725 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363727 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428031 UniProtKB/TrEMBL
Ensembl Transcript ENST00000252336 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374597 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523864 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.530.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130052 GTEx
HGNC ID HGNC:19161 ENTREZGENE
Human Proteome Map STARD8 Human Proteome Map
InterPro Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed UniProtKB/TrEMBL
  START-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  START_lipid-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9754 UniProtKB/Swiss-Prot
NCBI Gene 9754 ENTREZGENE
OMIM 300689 OMIM
Pfam RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  START UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38804 PharmGKB
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  START UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  START UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/TrEMBL
  SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0U2P1_HUMAN UniProtKB/TrEMBL
  E5RFN7_HUMAN UniProtKB/TrEMBL
  Q92502 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K6T2 UniProtKB/Swiss-Prot
  D3DVT9 UniProtKB/Swiss-Prot
  Q5JST0 UniProtKB/Swiss-Prot
  Q68DG7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 STARD8  StAR related lipid transfer domain containing 8    StAR-related lipid transfer domain containing 8  Symbol and/or name change 5135510 APPROVED
2015-11-10 STARD8  StAR-related lipid transfer domain containing 8    StAR-related lipid transfer (START) domain containing 8  Symbol and/or name change 5135510 APPROVED