FAM156A (family with sequence similarity 156 member A) - Rat Genome Database

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Gene: FAM156A (family with sequence similarity 156 member A) Homo sapiens
Analyze
Symbol: FAM156A
Name: family with sequence similarity 156 member A
RGD ID: 1346543
HGNC Page HGNC
Description: Predicted to have methylated histone binding activity. Localizes to nuclear envelope; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; arsane; arsenic atom.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp686B22211; FAM156B; family with sequence similarity 156, member A; PRO0659; protein FAM156A/FAM156B; TMEM29; transmembrane protein 29; transmembrane protein 29/29B
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Alliance Genes
More Info more info ...
Related Pseudogenes: AC231759.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX52,926,402 - 52,995,472 (-)EnsemblGRCh38hg38GRCh38
GRCh38X52,947,254 - 52,995,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X52,976,462 - 53,024,651 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X52,993,187 - 53,002,901 (-)NCBINCBI36hg18NCBI36
Build 34X52,859,486 - 52,869,197NCBI
CeleraX56,750,404 - 56,760,120 (+)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,038,171 - 50,088,027 (-)NCBIHuRef
CHM1_1X52,910,751 - 52,927,712 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:14702039   PMID:15489334   PMID:15489336   PMID:15772651   PMID:16189514   PMID:16344560   PMID:16381901   PMID:16712791   PMID:25416956  
PMID:26760575   PMID:32296183  


Genomics

Comparative Map Data
FAM156A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX52,926,402 - 52,995,472 (-)EnsemblGRCh38hg38GRCh38
GRCh38X52,947,254 - 52,995,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X52,976,462 - 53,024,651 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X52,993,187 - 53,002,901 (-)NCBINCBI36hg18NCBI36
Build 34X52,859,486 - 52,869,197NCBI
CeleraX56,750,404 - 56,760,120 (+)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,038,171 - 50,088,027 (-)NCBIHuRef
CHM1_1X52,910,751 - 52,927,712 (+)NCBICHM1_1
Tmem29
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,180,771 - 149,250,327 (-)NCBIGRCm39mm39
GRCm39 EnsemblX149,180,769 - 149,242,150 (-)Ensembl
GRCm38X150,397,775 - 150,495,036 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,397,773 - 150,459,154 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X146,832,316 - 146,893,693 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X145,749,294 - 145,781,822 (-)NCBImm8
CeleraX133,945,459 - 134,004,497 (+)NCBICelera
Cytogenetic MapXF3NCBI
Fam156b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X19,338,236 - 19,340,924 (-)NCBI
Rnor_6.0 EnsemblX20,806,602 - 20,807,216 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X20,804,902 - 20,809,295 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X21,550,899 - 21,555,275 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX19,611,693 - 19,618,814 (-)NCBICelera
Cytogenetic MapXq12NCBI
Fam156a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547568,381 - 69,763 (-)NCBIChiLan1.0ChiLan1.0
FAM156A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X44,702,675 - 44,825,693 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX36,319,288 - 36,368,602 (-)NCBI
ROS_Cfam_1.0X45,095,348 - 45,162,672 (-)NCBI
UMICH_Zoey_3.1X44,590,725 - 44,657,946 (-)NCBI
UNSW_CanFamBas_1.0X45,040,337 - 45,107,574 (-)NCBI

Position Markers
WI-18679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,976,485 - 52,976,621UniSTSGRCh37
GRCh37X52,937,428 - 52,937,564UniSTSGRCh37
Build 36X52,954,153 - 52,954,289RGDNCBI36
CeleraX56,759,961 - 56,760,097RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,038,194 - 50,038,330UniSTS
GeneMap99-GB4 RH MapX166.73UniSTS
Whitehead-RH MapX96.1UniSTS
AF020134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,986,541 - 52,986,645UniSTSGRCh37
GRCh37X52,927,393 - 52,927,497UniSTSGRCh37
Build 36X52,944,118 - 52,944,222RGDNCBI36
CeleraX56,749,935 - 56,750,039RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,048,261 - 50,048,365UniSTS
TMEM29_9572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,976,414 - 52,977,208UniSTSGRCh37
GRCh37X52,936,841 - 52,937,635UniSTSGRCh37
Build 36X52,953,566 - 52,954,360RGDNCBI36
CeleraX56,759,374 - 56,760,168RGD
HuRefX50,038,123 - 50,038,917UniSTS
IB3700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,976,550 - 52,976,840UniSTSGRCh37
GRCh37X52,937,209 - 52,937,499UniSTSGRCh37
Build 36X52,953,934 - 52,954,224RGDNCBI36
CeleraX56,759,742 - 56,760,032RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,038,259 - 50,038,549UniSTS
GeneMap99-GB4 RH MapX166.56UniSTS
Whitehead-RH MapX96.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6825
Count of miRNA genes:1171
Interacting mature miRNAs:1473
Transcripts:ENST00000316310, ENST00000330025, ENST00000356333, ENST00000375473, ENST00000411516, ENST00000414076, ENST00000416923, ENST00000438003, ENST00000447562, ENST00000451084, ENST00000475552, ENST00000493931, ENST00000503775, ENST00000505062, ENST00000505988, ENST00000510517, ENST00000510893, ENST00000511863, ENST00000512364, ENST00000515858
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001242489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC234031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF370413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI829697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU192418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB139342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA256347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA347198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA368012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA371625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA572135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA685609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA691898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA849151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000596733   ⟹   ENSP00000471676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,947,258 - 52,958,414 (-)Ensembl
RefSeq Acc Id: ENST00000610625   ⟹   ENSP00000484486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,579 - 52,995,372 (-)Ensembl
RefSeq Acc Id: ENST00000611661   ⟹   ENSP00000480518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,947,254 - 52,995,464 (-)Ensembl
RefSeq Acc Id: ENST00000612083   ⟹   ENSP00000484967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,484 - 52,995,443 (-)Ensembl
RefSeq Acc Id: ENST00000612846   ⟹   ENSP00000479348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,035 - 52,957,659 (-)Ensembl
RefSeq Acc Id: ENST00000612915   ⟹   ENSP00000484167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,947,258 - 52,995,472 (-)Ensembl
RefSeq Acc Id: ENST00000613284   ⟹   ENSP00000480373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,926,402 - 52,958,494 (-)Ensembl
RefSeq Acc Id: ENST00000615092   ⟹   ENSP00000479184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,947,258 - 52,995,472 (-)Ensembl
RefSeq Acc Id: ENST00000615171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,965,450 - 52,995,472 (-)Ensembl
RefSeq Acc Id: ENST00000616235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,956,279 - 52,964,508 (-)Ensembl
RefSeq Acc Id: ENST00000616592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,595 - 52,995,455 (-)Ensembl
RefSeq Acc Id: ENST00000617970   ⟹   ENSP00000481435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,947,254 - 52,958,501 (-)Ensembl
RefSeq Acc Id: ENST00000618601   ⟹   ENSP00000482980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,421 - 52,964,214 (-)Ensembl
RefSeq Acc Id: ENST00000619373   ⟹   ENSP00000484757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,209 - 52,958,873 (-)Ensembl
RefSeq Acc Id: ENST00000619518   ⟹   ENSP00000482562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,343 - 52,958,518 (-)Ensembl
RefSeq Acc Id: ENST00000619586   ⟹   ENSP00000479822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,577 - 52,957,247 (-)Ensembl
RefSeq Acc Id: ENST00000619897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,955,155 - 52,995,472 (-)Ensembl
RefSeq Acc Id: ENST00000622197   ⟹   ENSP00000481568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,195 - 52,958,446 (-)Ensembl
RefSeq Acc Id: ENST00000622323   ⟹   ENSP00000477905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,473 - 52,995,453 (-)Ensembl
RefSeq Acc Id: ENST00000622430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,965,573 - 52,995,472 (-)Ensembl
RefSeq Acc Id: ENST00000622447   ⟹   ENSP00000482142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,947,254 - 52,958,484 (-)Ensembl
RefSeq Acc Id: ENST00000622732   ⟹   ENSP00000479338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,948,254 - 52,995,455 (-)Ensembl
RefSeq Acc Id: ENST00000623782   ⟹   ENSP00000485247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,947,258 - 52,995,472 (-)Ensembl
RefSeq Acc Id: NM_001242489   ⟹   NP_001229418
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,247 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242490   ⟹   NP_001229419
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,252 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242491   ⟹   NP_001229420
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,518 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,916,466 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242492   ⟹   NP_001229421
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,910,751 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242493   ⟹   NP_001229422
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,917,764 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242494   ⟹   NP_001229423
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,644 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242495   ⟹   NP_001229424
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,644 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242496   ⟹   NP_001229425
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,661 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242497   ⟹   NP_001229426
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,918,661 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377060   ⟹   NP_001363989
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,473 (-)NCBI
RefSeq Acc Id: NM_001377061   ⟹   NP_001363990
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,569 (-)NCBI
RefSeq Acc Id: NM_001377062   ⟹   NP_001363991
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,571 (-)NCBI
RefSeq Acc Id: NM_001377063   ⟹   NP_001363992
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,497 (-)NCBI
RefSeq Acc Id: NM_001387706   ⟹   NP_001374635
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,518 (-)NCBI
RefSeq Acc Id: NM_014138   ⟹   NP_054857
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
GRCh37X52,976,462 - 53,024,651 (-)ENTREZGENE
Build 36X52,993,187 - 53,002,901 (-)NCBI Archive
CeleraX56,750,404 - 56,760,120 (+)RGD
HuRefX50,038,171 - 50,088,027 (-)ENTREZGENE
CHM1_1X52,917,764 - 52,927,712 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530783   ⟹   XP_011529085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,958,873 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029457   ⟹   XP_016884946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029458   ⟹   XP_016884947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,947,254 - 52,995,472 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001229418 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229419 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229420 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229421 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229422 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229423 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229425 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229426 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363989 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374635 (Get FASTA)   NCBI Sequence Viewer  
  NP_054857 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529085 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884946 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884947 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF24055 (Get FASTA)   NCBI Sequence Viewer  
  AAH00867 (Get FASTA)   NCBI Sequence Viewer  
  AAH67819 (Get FASTA)   NCBI Sequence Viewer  
  AAQ15249 (Get FASTA)   NCBI Sequence Viewer  
  BAG51954 (Get FASTA)   NCBI Sequence Viewer  
  BAG52539 (Get FASTA)   NCBI Sequence Viewer  
  BAG53221 (Get FASTA)   NCBI Sequence Viewer  
  CAD38851 (Get FASTA)   NCBI Sequence Viewer  
  CAH18413 (Get FASTA)   NCBI Sequence Viewer  
  EAW57547 (Get FASTA)   NCBI Sequence Viewer  
  Q8NDB6 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_054857   ⟸   NM_014138
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229426   ⟸   NM_001242497
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229425   ⟸   NM_001242496
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229419   ⟸   NM_001242490
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229422   ⟸   NM_001242493
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229424   ⟸   NM_001242495
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229423   ⟸   NM_001242494
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229418   ⟸   NM_001242489
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229421   ⟸   NM_001242492
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229420   ⟸   NM_001242491
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529085   ⟸   XM_011530783
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884947   ⟸   XM_017029458
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884946   ⟸   XM_017029457
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001363991   ⟸   NM_001377062
RefSeq Acc Id: NP_001363990   ⟸   NM_001377061
RefSeq Acc Id: NP_001363992   ⟸   NM_001377063
RefSeq Acc Id: NP_001363989   ⟸   NM_001377060
RefSeq Acc Id: ENSP00000471676   ⟸   ENST00000596733
RefSeq Acc Id: ENSP00000482142   ⟸   ENST00000622447
RefSeq Acc Id: ENSP00000477905   ⟸   ENST00000622323
RefSeq Acc Id: ENSP00000481568   ⟸   ENST00000622197
RefSeq Acc Id: ENSP00000479338   ⟸   ENST00000622732
RefSeq Acc Id: ENSP00000485247   ⟸   ENST00000623782
RefSeq Acc Id: ENSP00000484486   ⟸   ENST00000610625
RefSeq Acc Id: ENSP00000480518   ⟸   ENST00000611661
RefSeq Acc Id: ENSP00000484967   ⟸   ENST00000612083
RefSeq Acc Id: ENSP00000484167   ⟸   ENST00000612915
RefSeq Acc Id: ENSP00000479348   ⟸   ENST00000612846
RefSeq Acc Id: ENSP00000480373   ⟸   ENST00000613284
RefSeq Acc Id: ENSP00000479184   ⟸   ENST00000615092
RefSeq Acc Id: ENSP00000481435   ⟸   ENST00000617970
RefSeq Acc Id: ENSP00000482980   ⟸   ENST00000618601
RefSeq Acc Id: ENSP00000482562   ⟸   ENST00000619518
RefSeq Acc Id: ENSP00000479822   ⟸   ENST00000619586
RefSeq Acc Id: ENSP00000484757   ⟸   ENST00000619373
RefSeq Acc Id: NP_001374635   ⟸   NM_001387706

Promoters
RGD ID:13605356
Promoter ID:EPDNEW_H28862
Type:initiation region
Name:FAM156A_1
Description:family with sequence similarity 156 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28863  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,958,468 - 52,958,528EPDNEW
RGD ID:13605358
Promoter ID:EPDNEW_H28863
Type:initiation region
Name:FAM156A_2
Description:family with sequence similarity 156 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28862  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,995,472 - 52,995,532EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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
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
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
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 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 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 Xp11.22(chrX:52975325-53610511)x3 copy number gain See cases [RCV000138363] ChrX:52975325..53610511 [GRCh38]
ChrX:53004505..53637472 [GRCh37]
ChrX:53021230..53654197 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp11.22(chrX:51701448-53065696)x0 copy number loss See cases [RCV000138538] ChrX:51701448..53065696 [GRCh38]
ChrX:51436667..53047381 [GRCh37]
ChrX:51453407..53111603 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0 copy number loss See cases [RCV000143765] ChrX:51707794..53229764 [GRCh38]
ChrX:51450890..53258946 [GRCh37]
ChrX:51467630..53275671 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-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: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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp11.22(chrX:52923471-53765589)x2 copy number gain Intellectual disability [RCV001270430] ChrX:52923471..53765589 [GRCh37]
ChrX:Xp11.22
pathogenic
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
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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(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: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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)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
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 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.22(chrX:53014126-53234484)x1 copy number loss not provided [RCV000753541] ChrX:53014126..53234484 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [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
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.22(chrX:51476578-53087050)x0 copy number loss not provided [RCV000848734] ChrX:51476578..53087050 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30114 AgrOrtholog
COSMIC FAM156A COSMIC
Ensembl Genes ENSG00000179304 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000268350 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000422411 UniProtKB/Swiss-Prot
  ENSP00000424864 UniProtKB/Swiss-Prot
  ENSP00000469248 UniProtKB/Swiss-Prot
  ENSP00000471676 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477905 UniProtKB/TrEMBL
  ENSP00000478064 UniProtKB/TrEMBL
  ENSP00000479184 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479338 UniProtKB/TrEMBL
  ENSP00000479348 UniProtKB/TrEMBL
  ENSP00000480373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480518 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481435 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481568 UniProtKB/TrEMBL
  ENSP00000482142 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482562 UniProtKB/TrEMBL
  ENSP00000482980 UniProtKB/TrEMBL
  ENSP00000483008 UniProtKB/Swiss-Prot
  ENSP00000484167 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484757 UniProtKB/TrEMBL
  ENSP00000484967 UniProtKB/TrEMBL
  ENSP00000485247 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000416841 UniProtKB/Swiss-Prot
  ENST00000509613 UniProtKB/Swiss-Prot
  ENST00000593751 UniProtKB/Swiss-Prot
  ENST00000596733 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611661 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612083 UniProtKB/TrEMBL
  ENST00000612846 UniProtKB/TrEMBL
  ENST00000612915 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613284 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615092 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616419 UniProtKB/Swiss-Prot
  ENST00000617970 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000618601 UniProtKB/TrEMBL
  ENST00000619346 UniProtKB/TrEMBL
  ENST00000619373 UniProtKB/TrEMBL
  ENST00000619518 UniProtKB/TrEMBL
  ENST00000622197 UniProtKB/TrEMBL
  ENST00000622323 UniProtKB/TrEMBL
  ENST00000622447 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000622732 UniProtKB/TrEMBL
  ENST00000623782 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000179304 GTEx
  ENSG00000268350 GTEx
HGNC ID HGNC:30114 ENTREZGENE
Human Proteome Map FAM156A Human Proteome Map
InterPro Dppa3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29057 UniProtKB/Swiss-Prot
  hsa:727866 UniProtKB/Swiss-Prot
NCBI Gene 29057 ENTREZGENE
PANTHER PTHR31577 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PGC7_Stella UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162386698 PharmGKB
UniProt A0A087WTI8_HUMAN UniProtKB/TrEMBL
  A0A087WVC3_HUMAN UniProtKB/TrEMBL
  A0A087WVC8_HUMAN UniProtKB/TrEMBL
  A0A087WY72_HUMAN UniProtKB/TrEMBL
  A0A087WZD0_HUMAN UniProtKB/TrEMBL
  A0A087WZZ1_HUMAN UniProtKB/TrEMBL
  A0A087X275_HUMAN UniProtKB/TrEMBL
  A0A087X2G5_HUMAN UniProtKB/TrEMBL
  FA156_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KQ92 UniProtKB/Swiss-Prot
  Q5JPL2 UniProtKB/Swiss-Prot
  Q5JPL3 UniProtKB/Swiss-Prot
  Q5JPL4 UniProtKB/Swiss-Prot
  Q5JPL5 UniProtKB/Swiss-Prot
  Q5JPL6 UniProtKB/Swiss-Prot
  Q68D17 UniProtKB/Swiss-Prot
  Q6NVY3 UniProtKB/Swiss-Prot
  Q9UI49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM156A  family with sequence similarity 156 member A    family with sequence similarity 156, member A  Symbol and/or name change 5135510 APPROVED