PHF8 (PHD finger protein 8) - Rat Genome Database

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Gene: PHF8 (PHD finger protein 8) Homo sapiens
Analyze
Symbol: PHF8
Name: PHD finger protein 8
RGD ID: 1347460
HGNC Page HGNC
Description: Exhibits several functions, including histone demethylase activity; methylated histone binding activity; and transition metal ion binding activity. Involved in several processes, including histone lysine demethylation; negative regulation of ribosomal DNA heterochromatin assembly; and positive regulation of transcription by RNA polymerase I. Localizes to nuclear membrane; nucleolus; and nucleoplasm. Implicated in syndromic X-linked intellectual disability Siderius type. Biomarker of prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: [histone H3]-dimethyl-L-lysine(36) demethylase PHF8; [histone H3]-dimethyl-L-lysine(9) demethylase PHF8; DKFZp686E0868; histone lysine demethylase PHF8; JHDM1F; jumonji C domain-containing histone demethylase 1F; KDM7B; KIAA1111; MRXSSD; ZNF422
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 EnsemblX53,936,676 - 54,048,958 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,936,680 - 54,048,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,963,113 - 54,071,569 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,979,838 - 54,087,036 (-)NCBINCBI36hg18NCBI36
Build 34X53,846,135 - 53,953,332NCBI
CeleraX57,794,656 - 57,902,802 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,017,153 - 51,124,050 (-)NCBIHuRef
CHM1_1X53,954,083 - 54,062,605 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10398231   PMID:10470851   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:15772651   PMID:16199551   PMID:16344560   PMID:17081983   PMID:17594395  
PMID:17643375   PMID:17661819   PMID:18498374   PMID:19394292   PMID:19843542   PMID:20023638   PMID:20067792   PMID:20101266   PMID:20208542   PMID:20346720   PMID:20421419   PMID:20531378  
PMID:20548336   PMID:20622853   PMID:20622854   PMID:20644565   PMID:20850016   PMID:20953165   PMID:21029866   PMID:21057379   PMID:21244100   PMID:21832049   PMID:21873635   PMID:22850744  
PMID:23022380   PMID:23518351   PMID:23979597   PMID:24146981   PMID:25065740   PMID:25204660   PMID:25544563   PMID:26186194   PMID:26496610   PMID:26751588   PMID:26864203   PMID:26972000  
PMID:27025967   PMID:27183383   PMID:27689328   PMID:27880917   PMID:27899639   PMID:28135719   PMID:28514442   PMID:28718761   PMID:28734980   PMID:28765946   PMID:29117863   PMID:29246768  
PMID:29330049   PMID:29395067   PMID:29467282   PMID:29509190   PMID:29676528   PMID:29845934   PMID:30021884   PMID:30180906   PMID:30758047   PMID:30764899   PMID:30804502   PMID:30940648  
PMID:31048545   PMID:31091453   PMID:31343991   PMID:31536960   PMID:31753913   PMID:31923801   PMID:32051553   PMID:32416067   PMID:32958674   PMID:33010150  


Genomics

Comparative Map Data
PHF8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,936,676 - 54,048,958 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,936,680 - 54,048,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,963,113 - 54,071,569 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,979,838 - 54,087,036 (-)NCBINCBI36hg18NCBI36
Build 34X53,846,135 - 53,953,332NCBI
CeleraX57,794,656 - 57,902,802 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,017,153 - 51,124,050 (-)NCBIHuRef
CHM1_1X53,954,083 - 54,062,605 (-)NCBICHM1_1
Phf8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X150,303,621 - 150,416,855 (+)NCBIGRCm39mm39
GRCm39 EnsemblX150,303,668 - 150,416,855 (+)Ensembl
GRCm38X151,520,641 - 151,633,859 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX151,520,672 - 151,633,859 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X147,955,215 - 148,068,400 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X146,861,897 - 146,966,549 (+)NCBImm8
CeleraX132,791,679 - 132,892,823 (-)NCBICelera
Cytogenetic MapXF3NCBI
Phf8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X20,524,103 - 20,623,459 (+)NCBI
Rnor_6.0 EnsemblX21,063,562 - 21,168,750 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X21,063,487 - 21,168,750 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X22,281,640 - 22,387,057 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X40,869,942 - 40,970,244 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX20,777,198 - 20,875,387 (+)NCBICelera
Cytogenetic MapXq12NCBI
Phf8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554751,105,619 - 1,230,756 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554751,105,619 - 1,230,758 (-)NCBIChiLan1.0ChiLan1.0
PHF8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X54,250,970 - 54,355,278 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX54,250,970 - 54,355,913 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X46,144,815 - 46,250,594 (-)NCBIMhudiblu_PPA_v0panPan3
PHF8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X45,635,204 - 45,741,850 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX45,571,840 - 46,081,994 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX37,095,737 - 37,202,320 (-)NCBI
ROS_Cfam_1.0X45,962,900 - 46,069,769 (-)NCBI
UMICH_Zoey_3.1X45,454,705 - 45,561,287 (-)NCBI
UNSW_CanFamBas_1.0X45,904,962 - 46,011,865 (-)NCBI
UU_Cfam_GSD_1.0X45,972,344 - 46,078,926 (-)NCBI
Phf8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X38,510,905 - 38,595,607 (-)NCBI
SpeTri2.0NW_004936751850,630 - 935,382 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHF8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX46,648,165 - 46,759,248 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X46,648,164 - 46,761,192 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X52,130,299 - 52,307,327 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PHF8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X50,058,687 - 50,172,827 (-)NCBI
ChlSab1.1 EnsemblX50,058,273 - 50,172,086 (-)Ensembl
Phf8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249091,481,710 - 1,639,840 (-)NCBI

Position Markers
DXS990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X93,000,646 - 93,000,819UniSTSGRCh37
GRCh37X93,000,657 - 93,000,817UniSTSGRCh37
Build 36X92,887,302 - 92,887,475RGDNCBI36
CeleraX93,525,899 - 93,526,061UniSTS
CeleraX93,525,888 - 93,526,063RGD
HuRefX82,823,341 - 82,823,503UniSTS
HuRefX82,823,330 - 82,823,505UniSTS
Marshfield Genetic MapX60.62RGD
Genethon Genetic MapX104.9UniSTS
TNG Radiation Hybrid MapX21162.0UniSTS
deCODE Assembly MapX94.92UniSTS
Stanford-G3 RH MapX3100.0UniSTS
GeneMap99-GB4 RH MapX268.56UniSTS
Whitehead-YAC Contig MapX UniSTS
GeneMap99-G3 RH MapX3000.0UniSTS
SGC31978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,963,114 - 53,963,240UniSTSGRCh37
Build 36X53,979,839 - 53,979,965RGDNCBI36
CeleraX57,794,657 - 57,794,783RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,017,154 - 51,017,280UniSTS
Whitehead-RH MapX92.2UniSTS
RH45985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,982,111 - 53,982,284UniSTSGRCh37
Build 36X53,998,836 - 53,999,009RGDNCBI36
Cytogenetic MapXp11.22UniSTS
HuRefX51,035,228 - 51,035,401UniSTS
RH104352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,066,089 - 54,066,233UniSTSGRCh37
Build 36X54,082,814 - 54,082,958RGDNCBI36
CeleraX57,897,322 - 57,897,466RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,118,572 - 51,118,716UniSTS
DXS441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X75,356,696 - 75,356,869UniSTSGRCh37
GRCh37X75,356,627 - 75,356,831UniSTSGRCh37
GRCh37X75,356,690 - 75,356,792UniSTSGRCh37
Build 36X75,273,081 - 75,273,195RGDNCBI36
CeleraX75,639,619 - 75,639,835UniSTS
CeleraX75,639,682 - 75,639,796RGD
CeleraX75,639,688 - 75,639,873UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX68,989,527 - 68,989,712UniSTS
HuRefX68,989,521 - 68,989,635UniSTS
HuRefX68,989,458 - 68,989,674UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,361,445 - 47,361,618UniSTSGRCh37
GRCh37X47,364,850 - 47,364,993UniSTSGRCh37
GRCh371185,602,738 - 185,603,438UniSTSGRCh37
Build 36X47,246,389 - 47,246,562RGDNCBI36
CeleraX51,556,708 - 51,556,881RGD
Celera1158,713,445 - 158,714,145UniSTS
CeleraX51,560,115 - 51,560,256UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX45,073,633 - 45,073,804UniSTS
HuRefX45,077,240 - 45,077,381UniSTS
HuRef1156,837,683 - 156,838,383UniSTS
RH123478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,066,341 - 54,066,644UniSTSGRCh37
Build 36X54,083,066 - 54,083,369RGDNCBI36
CeleraX57,897,574 - 57,897,877RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,118,824 - 51,119,127UniSTS
TNG Radiation Hybrid MapX14090.0UniSTS
SHGC-112282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,037,093 - 54,037,416UniSTSGRCh37
Build 36X54,053,818 - 54,054,141RGDNCBI36
CeleraX57,868,343 - 57,868,666RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,089,500 - 51,089,823UniSTS
STS-N24182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,969,104 - 53,969,279UniSTSGRCh37
Build 36X53,985,829 - 53,986,004RGDNCBI36
CeleraX57,800,647 - 57,800,822RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,023,057 - 51,023,232UniSTS
GeneMap99-GB4 RH MapX172.23UniSTS
SHGC-59949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,963,815 - 53,963,931UniSTSGRCh37
Build 36X53,980,540 - 53,980,656RGDNCBI36
CeleraX57,795,358 - 57,795,474RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,017,855 - 51,017,971UniSTS
TNG Radiation Hybrid MapX14058.0UniSTS
PHF8_9310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,963,020 - 53,963,853UniSTSGRCh37
Build 36X53,979,745 - 53,980,578RGDNCBI36
CeleraX57,794,563 - 57,795,396RGD
HuRefX51,017,060 - 51,017,893UniSTS
DXS6968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,072,456 - 54,072,666UniSTSGRCh37
Build 36X54,089,181 - 54,089,391RGDNCBI36
CeleraX57,903,689 - 57,903,899RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,124,947 - 51,125,157UniSTS
DXS990  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.22UniSTS
Cytogenetic MapXq21.1UniSTS
Marshfield Genetic MapX60.62UniSTS
Genethon Genetic MapX104.9UniSTS
deCODE Assembly MapX94.92UniSTS
Whitehead-YAC Contig MapX UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10590
Count of miRNA genes:1485
Interacting mature miRNAs:2009
Transcripts:ENST00000322659, ENST00000338154, ENST00000338946, ENST00000357988, ENST00000396282, ENST00000413386, ENST00000415025, ENST00000425862, ENST00000433120, ENST00000437224, ENST00000443302, ENST00000445025, ENST00000448003, ENST00000453905, ENST00000462182, ENST00000470103, ENST00000490635, ENST00000494928
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1879 1530 1318 443 1342 312 3420 864 1459 187 1398 1545 145 991 1967 3
Low 558 1457 408 181 609 152 935 1333 2263 232 61 68 28 213 821 1 2
Below cutoff 2 1 12 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE676640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA458639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB079048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322659   ⟹   ENSP00000319473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,943,256 - 54,043,194 (-)Ensembl
RefSeq Acc Id: ENST00000338154   ⟹   ENSP00000338868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,936,680 - 54,044,473 (-)Ensembl
RefSeq Acc Id: ENST00000338946   ⟹   ENSP00000340051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,936,682 - 54,044,174 (-)Ensembl
RefSeq Acc Id: ENST00000357988   ⟹   ENSP00000350676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,936,676 - 54,045,249 (-)Ensembl
RefSeq Acc Id: ENST00000396282   ⟹   ENSP00000379578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,937,498 - 54,022,262 (-)Ensembl
RefSeq Acc Id: ENST00000413386   ⟹   ENSP00000388796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,992,794 - 54,011,203 (-)Ensembl
RefSeq Acc Id: ENST00000415025   ⟹   ENSP00000404117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,017,771 - 54,044,062 (-)Ensembl
RefSeq Acc Id: ENST00000425862   ⟹   ENSP00000408113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,017,737 - 54,042,986 (-)Ensembl
RefSeq Acc Id: ENST00000433120   ⟹   ENSP00000410100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,022,259 - 54,042,990 (-)Ensembl
RefSeq Acc Id: ENST00000437224   ⟹   ENSP00000398995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,017,770 - 54,048,958 (-)Ensembl
RefSeq Acc Id: ENST00000443302   ⟹   ENSP00000397129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,942,618 - 54,014,449 (-)Ensembl
RefSeq Acc Id: ENST00000445025   ⟹   ENSP00000416546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,022,259 - 54,043,147 (-)Ensembl
RefSeq Acc Id: ENST00000448003   ⟹   ENSP00000414028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,992,802 - 54,002,670 (-)Ensembl
RefSeq Acc Id: ENST00000453905   ⟹   ENSP00000405897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,017,779 - 54,048,935 (-)Ensembl
RefSeq Acc Id: ENST00000462182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,039,630 - 54,042,716 (-)Ensembl
RefSeq Acc Id: ENST00000470103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,940,369 - 53,944,564 (-)Ensembl
RefSeq Acc Id: ENST00000490635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,999,487 - 54,014,493 (-)Ensembl
RefSeq Acc Id: ENST00000494928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,987,787 - 53,993,009 (-)Ensembl
RefSeq Acc Id: NM_001184896   ⟹   NP_001171825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,045,136 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
HuRefX51,017,153 - 51,124,050 (-)ENTREZGENE
CHM1_1X53,954,083 - 54,062,605 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184897   ⟹   NP_001171826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,044,473 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
HuRefX51,017,153 - 51,124,050 (-)ENTREZGENE
CHM1_1X53,954,083 - 54,061,643 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184898   ⟹   NP_001171827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,942,615 - 54,043,147 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
HuRefX51,017,153 - 51,124,050 (-)ENTREZGENE
CHM1_1X53,960,018 - 54,060,663 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015107   ⟹   NP_055922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,044,473 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
Build 36X53,979,838 - 54,087,036 (-)NCBI Archive
HuRefX51,017,153 - 51,124,050 (-)ENTREZGENE
CHM1_1X53,954,083 - 54,061,643 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261996   ⟹   XP_005262053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,048,935 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261997   ⟹   XP_005262054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,043,996 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261999   ⟹   XP_005262056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,043,192 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262000   ⟹   XP_005262057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,045,249 (-)NCBI
GRCh37X53,963,113 - 54,075,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530778   ⟹   XP_011529080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,045,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029361   ⟹   XP_016884850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,680 - 54,043,969 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029362   ⟹   XP_016884851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,936,917 - 54,043,969 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001171825   ⟸   NM_001184896
- Peptide Label: isoform 1
- UniProtKB: Q9UPP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171826   ⟸   NM_001184897
- Peptide Label: isoform 3
- UniProtKB: Q9UPP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055922   ⟸   NM_015107
- Peptide Label: isoform 2
- UniProtKB: Q9UPP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171827   ⟸   NM_001184898
- Peptide Label: isoform 4
- UniProtKB: O95327 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262053   ⟸   XM_005261996
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005262057   ⟸   XM_005262000
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005262054   ⟸   XM_005261997
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005262056   ⟸   XM_005261999
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529080   ⟸   XM_011530778
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884850   ⟸   XM_017029361
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884851   ⟸   XM_017029362
- Peptide Label: isoform X3
- UniProtKB: Q9UPP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000408113   ⟸   ENST00000425862
RefSeq Acc Id: ENSP00000388796   ⟸   ENST00000413386
RefSeq Acc Id: ENSP00000405897   ⟸   ENST00000453905
RefSeq Acc Id: ENSP00000319473   ⟸   ENST00000322659
RefSeq Acc Id: ENSP00000404117   ⟸   ENST00000415025
RefSeq Acc Id: ENSP00000340051   ⟸   ENST00000338946
RefSeq Acc Id: ENSP00000338868   ⟸   ENST00000338154
RefSeq Acc Id: ENSP00000397129   ⟸   ENST00000443302
RefSeq Acc Id: ENSP00000416546   ⟸   ENST00000445025
RefSeq Acc Id: ENSP00000410100   ⟸   ENST00000433120
RefSeq Acc Id: ENSP00000414028   ⟸   ENST00000448003
RefSeq Acc Id: ENSP00000379578   ⟸   ENST00000396282
RefSeq Acc Id: ENSP00000350676   ⟸   ENST00000357988
RefSeq Acc Id: ENSP00000398995   ⟸   ENST00000437224
Protein Domains
JHD   JmjC   PHD-type

Promoters
RGD ID:13605384
Promoter ID:EPDNEW_H28876
Type:initiation region
Name:PHF8_2
Description:PHD finger protein 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28877  EPDNEW_H28878  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,043,147 - 54,043,207EPDNEW
RGD ID:13605386
Promoter ID:EPDNEW_H28877
Type:initiation region
Name:PHF8_1
Description:PHD finger protein 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28876  EPDNEW_H28878  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,043,934 - 54,043,994EPDNEW
RGD ID:13605388
Promoter ID:EPDNEW_H28878
Type:initiation region
Name:PHF8_3
Description:PHD finger protein 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28876  EPDNEW_H28877  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,044,195 - 54,044,255EPDNEW
RGD ID:6809122
Promoter ID:HG_KWN:66954
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001184898,   OTTHUMT00000056788,   OTTHUMT00000317963,   OTTHUMT00000317964,   OTTHUMT00000317965,   UC004DSW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,085,856 - 54,087,347 (-)MPROMDB
RGD ID:6808754
Promoter ID:HG_KWN:66955
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338946,   ENST00000354751,   ENST00000375189,   ENST00000396282,   NM_001184897,   OTTHUMT00000056786,   OTTHUMT00000056787
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,087,056 - 54,088,032 (-)MPROMDB
RGD ID:6809118
Promoter ID:HG_KWN:66956
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000357988
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,087,814 - 54,088,314 (-)MPROMDB
RGD ID:6809125
Promoter ID:HG_KWN:66957
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000317961,   OTTHUMT00000317962
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,092,791 - 54,093,291 (-)MPROMDB

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
PHF8, 12-BP DEL deletion Syndromic X-linked intellectual disability Siderius type [RCV000011544] ChrX:Xp11.2 pathogenic
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV000011545] ChrX:54014529 [GRCh38]
ChrX:54040962 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV000011546] ChrX:54016662 [GRCh38]
ChrX:54043095 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV000011547] ChrX:54011232 [GRCh38]
ChrX:54037665 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.122dup (p.Ala42fs) duplication not provided [RCV000522013] ChrX:54022819..54022820 [GRCh38]
ChrX:54049252..54049253 [GRCh37]
ChrX:Xp11.22
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)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 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22(chrX:53403791-54030240)x2 copy number gain See cases [RCV000052413] ChrX:53403791..54030240 [GRCh38]
ChrX:53430723..53957191 [GRCh37]
ChrX:53447448..54073398 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.21(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-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: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 Xp22.33-11.1(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 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
NM_015107.3(PHF8):c.606C>T (p.Asn202=) single nucleotide variant History of neurodevelopmental disorder [RCV000715735]|not provided [RCV000973801]|not specified [RCV000117907] ChrX:54014554 [GRCh38]
ChrX:54040987 [GRCh37]
ChrX:Xp11.22
benign
NM_015107.3(PHF8):c.1586G>A (p.Ser529Asn) single nucleotide variant not provided [RCV000117908] ChrX:53993641 [GRCh38]
ChrX:54020074 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.441T>G (p.Val147=) single nucleotide variant History of neurodevelopmental disorder [RCV000716625]|not specified [RCV000117909] ChrX:54017674 [GRCh38]
ChrX:54044107 [GRCh37]
ChrX:Xp11.22
benign
NM_015107.3(PHF8):c.1142-1G>A single nucleotide variant not provided [RCV000122545] ChrX:53999962 [GRCh38]
ChrX:54026395 [GRCh37]
ChrX:Xp11.22
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
NM_015107.3(PHF8):c.1731-1G>A single nucleotide variant not provided [RCV000174927] ChrX:53987945 [GRCh38]
ChrX:54014378 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter) single nucleotide variant not provided [RCV000175335] ChrX:53985147 [GRCh38]
ChrX:54011580 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_015107.3(PHF8):c.2129+39G>C single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV001331793] ChrX:53985777 [GRCh38]
ChrX:54012210 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV001331951] ChrX:53993878 [GRCh38]
ChrX:54020311 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.197G>A (p.Arg66His) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV001332017] ChrX:54022355 [GRCh38]
ChrX:54048788 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2790_2792CTC[2] (p.Ser933del) microsatellite History of neurodevelopmental disorder [RCV000716465]|not provided [RCV000514055] ChrX:53940368..53940370 [GRCh38]
ChrX:53966801..53966803 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_015107.3(PHF8):c.-56C>T single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV001331792] ChrX:54042784 [GRCh38]
ChrX:54069217 [GRCh37]
ChrX:Xp11.22
uncertain significance
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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp11.22-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 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
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 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-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 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 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-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 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 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 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 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 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
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 Xp22.33-11.21(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 Xp11.22(chrX:53899183-53976521)x2 copy number gain See cases [RCV000143256] ChrX:53899183..53976521 [GRCh38]
ChrX:53942328..54019679 [NCBI36]
ChrX:Xp11.22
uncertain significance
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
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) single nucleotide variant History of neurodevelopmental disorder [RCV000718055]|Intellectual disability [RCV001252343]|Syndromic X-linked intellectual disability Siderius type [RCV000990837]|not provided [RCV000514435]|not specified [RCV000193434] ChrX:53940446 [GRCh38]
ChrX:53966879 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000717063]|not provided [RCV000514014]|not specified [RCV000194751] ChrX:53985226 [GRCh38]
ChrX:54011659 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015107.3(PHF8):c.214C>A (p.His72Asn) single nucleotide variant not specified [RCV000192593] ChrX:54022338 [GRCh38]
ChrX:54048771 [GRCh37]
ChrX:Xp11.22
uncertain significance
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 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)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_015107.3(PHF8):c.1141+5G>C single nucleotide variant Intellectual disability [RCV000224454] ChrX:54002150 [GRCh38]
ChrX:54028583 [GRCh37]
ChrX:Xp11.22
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 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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
NM_015107.3(PHF8):c.-47A>G single nucleotide variant not provided [RCV000261029] ChrX:54042775 [GRCh38]
ChrX:54069208 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NM_001184896.1(PHF8):c.-1A>C single nucleotide variant not provided [RCV000585435] ChrX:54044891 [GRCh38]
ChrX:54071324 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.247G>A (p.Gly83Arg) single nucleotide variant not provided [RCV000523717] ChrX:54022305 [GRCh38]
ChrX:54048738 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.219T>A (p.Asp73Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000720963]|not provided [RCV000889412]|not specified [RCV000600070] ChrX:54022333 [GRCh38]
ChrX:54048766 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_015107.3(PHF8):c.377del (p.Leu126fs) deletion Syndromic X-linked intellectual disability Siderius type [RCV000414958] ChrX:54017738 [GRCh38]
ChrX:54044171 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.2130-3C>A single nucleotide variant not provided [RCV000729838] ChrX:53985230 [GRCh38]
ChrX:54011663 [GRCh37]
ChrX:Xp11.22
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 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015107.3(PHF8):c.2969G>A (p.Ser990Asn) single nucleotide variant not provided [RCV000522929] ChrX:53940197 [GRCh38]
ChrX:53966630 [GRCh37]
ChrX:Xp11.22
uncertain significance
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: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 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 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 Xp11.22(chrX:53797930-54608609)x3 copy number gain See cases [RCV000448260] ChrX:53797930..54608609 [GRCh37]
ChrX:Xp11.22
likely 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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp11.22(chrX:53782897-54004768)x3 copy number gain See cases [RCV000448379] ChrX:53782897..54004768 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.1343T>C (p.Val448Ala) single nucleotide variant not provided [RCV000481966] ChrX:53993884 [GRCh38]
ChrX:54020317 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NM_015107.3(PHF8):c.2345G>A (p.Arg782Gln) single nucleotide variant not specified [RCV000503828] ChrX:53985012 [GRCh38]
ChrX:54011445 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015107.3(PHF8):c.-4G>A single nucleotide variant not provided [RCV000889272]|not specified [RCV000501429] ChrX:54042732 [GRCh38]
ChrX:54069165 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_015107.3(PHF8):c.2199C>T (p.Ser733=) single nucleotide variant not specified [RCV000499614] ChrX:53985158 [GRCh38]
ChrX:54011591 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.-60C>T single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV000509211] ChrX:54042788 [GRCh38]
ChrX:54069221 [GRCh37]
ChrX:Xp11.22
uncertain significance|not provided
NM_015107.3(PHF8):c.2572C>T (p.Arg858Cys) single nucleotide variant not provided [RCV000497404] ChrX:53944211 [GRCh38]
ChrX:53970644 [GRCh37]
ChrX:Xp11.22
uncertain significance
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:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
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 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
NM_015107.3(PHF8):c.2225dup (p.Ser742fs) duplication Inborn genetic diseases [RCV000624543] ChrX:53985131..53985132 [GRCh38]
ChrX:54011564..54011565 [GRCh37]
ChrX:Xp11.22
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
NM_015107.3(PHF8):c.1726G>A (p.Gly576Ser) single nucleotide variant not provided [RCV000512924] ChrX:53992740 [GRCh38]
ChrX:54019173 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV000662041] ChrX:53985099 [GRCh38]
ChrX:54011532 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.258G>A (p.Thr86=) single nucleotide variant History of neurodevelopmental disorder [RCV000716553] ChrX:54022294 [GRCh38]
ChrX:54048727 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.912C>T (p.Ser304=) single nucleotide variant History of neurodevelopmental disorder [RCV000719695] ChrX:54011156 [GRCh38]
ChrX:54037589 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.1269A>G (p.Thr423=) single nucleotide variant History of neurodevelopmental disorder [RCV000719821] ChrX:53995747 [GRCh38]
ChrX:54022180 [GRCh37]
ChrX:Xp11.22
likely benign
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 Xp11.22(chrX:53372728-54106257)x2 copy number gain not provided [RCV000684334] ChrX:53372728..54106257 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:53922254-54059625)x3 copy number gain not provided [RCV000684336] ChrX:53922254..54059625 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2405A>C (p.Gln802Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000717202] ChrX:53984952 [GRCh38]
ChrX:54011385 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.1422C>T (p.Ser474=) single nucleotide variant History of neurodevelopmental disorder [RCV000716310] ChrX:53993805 [GRCh38]
ChrX:54020238 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.2130-3C>T single nucleotide variant History of neurodevelopmental disorder [RCV000716864] ChrX:53985230 [GRCh38]
ChrX:54011663 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000717669] ChrX:53940321 [GRCh38]
ChrX:53966754 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.336C>T (p.Thr112=) single nucleotide variant History of neurodevelopmental disorder [RCV000717755] ChrX:54017779 [GRCh38]
ChrX:54044212 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.1725C>T (p.Asn575=) single nucleotide variant History of neurodevelopmental disorder [RCV000718687] ChrX:53992741 [GRCh38]
ChrX:54019174 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.635A>G (p.Lys212Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000718488] ChrX:54014525 [GRCh38]
ChrX:54040958 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.1627-3C>T single nucleotide variant History of neurodevelopmental disorder [RCV000719217] ChrX:53992842 [GRCh38]
ChrX:54019275 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2544C>T (p.Arg848=) single nucleotide variant History of neurodevelopmental disorder [RCV000719184] ChrX:53944239 [GRCh38]
ChrX:53970672 [GRCh37]
ChrX:Xp11.22
likely benign
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: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
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] 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
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 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_015107.3(PHF8):c.1866C>T (p.Asp622=) single nucleotide variant not provided [RCV000926553] ChrX:53987809 [GRCh38]
ChrX:54014242 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.612G>A (p.Val204=) single nucleotide variant not provided [RCV000924597] ChrX:54014548 [GRCh38]
ChrX:54040981 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.1364T>C (p.Phe455Ser) single nucleotide variant not provided [RCV001042254] ChrX:53993863 [GRCh38]
ChrX:54020296 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2761A>G (p.Thr921Ala) single nucleotide variant not provided [RCV000926750] ChrX:53940405 [GRCh38]
ChrX:53966838 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.1996-8T>C single nucleotide variant not provided [RCV000967606] ChrX:53985957 [GRCh38]
ChrX:54012390 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015107.3(PHF8):c.2444-2A>G single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV000824887] ChrX:53962941 [GRCh38]
ChrX:53989374 [GRCh37]
ChrX:Xp11.22
likely 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_015107.3(PHF8):c.1772dup (p.Ile592fs) duplication not provided [RCV001008595] ChrX:53987902..53987903 [GRCh38]
ChrX:54014335..54014336 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.2713C>T (p.Gln905Ter) single nucleotide variant not provided [RCV001008678] ChrX:53940453 [GRCh38]
ChrX:53966886 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:53384424-54103704)x2 copy number gain not provided [RCV000846635] ChrX:53384424..54103704 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.2455del (p.Leu819fs) deletion Syndromic X-linked intellectual disability Siderius type [RCV001196604] ChrX:53962928 [GRCh38]
ChrX:53989361 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_015107.3(PHF8):c.-63C>A single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV001197933] ChrX:54042791 [GRCh38]
ChrX:54069224 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2815G>C (p.Glu939Gln) single nucleotide variant not provided [RCV000995920] ChrX:53940351 [GRCh38]
ChrX:53966784 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NM_015107.3(PHF8):c.192dup (p.Arg65fs) duplication not provided [RCV001008364] ChrX:54022359..54022360 [GRCh38]
ChrX:54048792..54048793 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.1662T>C (p.Asp554=) single nucleotide variant not provided [RCV000904949] ChrX:53992804 [GRCh38]
ChrX:54019237 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.2205G>A (p.Ser735=) single nucleotide variant not provided [RCV000919944] ChrX:53985152 [GRCh38]
ChrX:54011585 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.2334G>A (p.Arg778=) single nucleotide variant not provided [RCV000910708] ChrX:53985023 [GRCh38]
ChrX:54011456 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.-45_-44insGA insertion not specified [RCV001175008] ChrX:54042772..54042773 [GRCh38]
ChrX:54069205..54069206 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2880C>G (p.Ala960=) single nucleotide variant not provided [RCV000933661] ChrX:53940286 [GRCh38]
ChrX:53966719 [GRCh37]
ChrX:Xp11.22
likely benign
NM_015107.3(PHF8):c.-1G>A single nucleotide variant not provided [RCV000911893] ChrX:54042729 [GRCh38]
ChrX:54069162 [GRCh37]
ChrX:Xp11.22
benign
NM_015107.3(PHF8):c.368dup (p.Pro124fs) duplication not provided [RCV001008620] ChrX:54017746..54017747 [GRCh38]
ChrX:54044179..54044180 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.1880del (p.Lys627fs) deletion Syndromic X-linked intellectual disability Siderius type [RCV001264733] ChrX:53987795 [GRCh38]
ChrX:54014228 [GRCh37]
ChrX:Xp11.22
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
NM_015107.3(PHF8):c.1185T>C (p.His395=) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV001331950] ChrX:53999918 [GRCh38]
ChrX:54026351 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.1694A>G (p.Asn565Ser) single nucleotide variant not provided [RCV001311393] ChrX:53992772 [GRCh38]
ChrX:54019205 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.22(chrX:53188785-54049698)x3 copy number gain not provided [RCV001258795] ChrX:53188785..54049698 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:53782897-54011835)x4 copy number gain not provided [RCV001258947] ChrX:53782897..54011835 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.1615C>T (p.Gln539Ter) single nucleotide variant not provided [RCV001268811] ChrX:53993612 [GRCh38]
ChrX:54020045 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_015107.3(PHF8):c.2299A>G (p.Asn767Asp) single nucleotide variant Inborn genetic diseases [RCV001267403] ChrX:53985058 [GRCh38]
ChrX:54011491 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.1517G>A (p.Arg506Gln) single nucleotide variant Inborn genetic diseases [RCV001266024] ChrX:53993710 [GRCh38]
ChrX:54020143 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_015107.3(PHF8):c.2544C>A (p.Arg848=) single nucleotide variant not provided [RCV001311392] ChrX:53944239 [GRCh38]
ChrX:53970672 [GRCh37]
ChrX:Xp11.22
likely benign
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
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) single nucleotide variant Syndromic X-linked intellectual disability Siderius type [RCV001332018] ChrX:53985012 [GRCh38]
ChrX:54011445 [GRCh37]
ChrX:Xp11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20672 AgrOrtholog
COSMIC PHF8 COSMIC
Ensembl Genes ENSG00000172943 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000319473 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000338868 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000340051 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000350676 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379578 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000388796 UniProtKB/TrEMBL
  ENSP00000397129 UniProtKB/TrEMBL
  ENSP00000398995 UniProtKB/TrEMBL
  ENSP00000404117 UniProtKB/TrEMBL
  ENSP00000405897 UniProtKB/TrEMBL
  ENSP00000408113 UniProtKB/TrEMBL
  ENSP00000410100 UniProtKB/TrEMBL
  ENSP00000414028 UniProtKB/TrEMBL
  ENSP00000416546 UniProtKB/TrEMBL
Ensembl Transcript ENST00000322659 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000338154 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000338946 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000357988 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396282 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000413386 UniProtKB/TrEMBL
  ENST00000415025 UniProtKB/TrEMBL
  ENST00000425862 UniProtKB/TrEMBL
  ENST00000433120 UniProtKB/TrEMBL
  ENST00000437224 UniProtKB/TrEMBL
  ENST00000443302 UniProtKB/TrEMBL
  ENST00000445025 UniProtKB/TrEMBL
  ENST00000448003 UniProtKB/TrEMBL
  ENST00000453905 UniProtKB/TrEMBL
GTEx ENSG00000172943 GTEx
HGNC ID HGNC:20672 ENTREZGENE
Human Proteome Map PHF8 Human Proteome Map
InterPro JHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc_finger_PHD-type_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23133 UniProtKB/Swiss-Prot
NCBI Gene 23133 ENTREZGENE
OMIM 300263 OMIM
  300560 OMIM
Pfam JHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134889361 PharmGKB
PROSITE JMJC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART JmjC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9Y4_HUMAN UniProtKB/TrEMBL
  B0QZE1_HUMAN UniProtKB/TrEMBL
  B0QZZ2_HUMAN UniProtKB/TrEMBL
  B0QZZ3_HUMAN UniProtKB/TrEMBL
  B0QZZ4_HUMAN UniProtKB/TrEMBL
  H0Y3N9_HUMAN UniProtKB/TrEMBL
  H0Y589_HUMAN UniProtKB/TrEMBL
  H0Y7M8_HUMAN UniProtKB/TrEMBL
  H7BZB7_HUMAN UniProtKB/TrEMBL
  O95327 ENTREZGENE, UniProtKB/TrEMBL
  PHF8_HUMAN UniProtKB/Swiss-Prot
  Q5JPR8_HUMAN UniProtKB/TrEMBL
  Q9UPP1 ENTREZGENE
UniProt Secondary B3KMV4 UniProtKB/Swiss-Prot
  B7Z911 UniProtKB/Swiss-Prot
  Q5H9U5 UniProtKB/Swiss-Prot
  Q5JPR9 UniProtKB/Swiss-Prot
  Q5JPS0 UniProtKB/Swiss-Prot
  Q5JPS2 UniProtKB/Swiss-Prot
  Q5JPS3 UniProtKB/Swiss-Prot
  Q5VUJ4 UniProtKB/Swiss-Prot
  Q7Z6D4 UniProtKB/Swiss-Prot
  Q9HAH2 UniProtKB/Swiss-Prot