FAM156B (family with sequence similarity 156 member B) - Rat Genome Database

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Gene: FAM156B (family with sequence similarity 156 member B) Homo sapiens
Analyze
Symbol: FAM156B
Name: family with sequence similarity 156 member B
RGD ID: 1626581
HGNC Page HGNC
Description: Predicted to have methylated histone binding activity. Localizes to nuclear envelope; INTERACTS WITH butanal; cyclosporin A; leflunomide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp686H1294; FAM156A; family with sequence similarity 156, member B; FLJ33130; FLJ34279; FLJ38843; protein FAM156A/FAM156B; TMEM29B; transmembrane protein 29; transmembrane protein 29-like; transmembrane protein 29/29B; transmembrane protein 29B
RGD Orthologs
Bonobo
Green Monkey
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 EnsemblX52,891,306 - 52,908,560 (+)EnsemblGRCh38hg38GRCh38
GRCh38X52,891,592 - 52,908,560 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X52,920,622 - 52,937,587 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X52,942,982 - 52,954,314 (+)NCBINCBI36hg18NCBI36
CeleraX56,750,951 - 56,760,120 (+)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,038,171 - 50,047,349 (-)NCBIHuRef
CHM1_1X52,940,743 - 52,995,630 (-)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
butanal  (EXP)
cyclosporin A  (EXP)
leflunomide  (EXP)
urethane  (EXP)

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

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11256614   PMID:14702039   PMID:15489334   PMID:15772651   PMID:16382448   PMID:25416956   PMID:32296183  


Genomics

Comparative Map Data
FAM156B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX52,891,306 - 52,908,560 (+)EnsemblGRCh38hg38GRCh38
GRCh38X52,891,592 - 52,908,560 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X52,920,622 - 52,937,587 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X52,942,982 - 52,954,314 (+)NCBINCBI36hg18NCBI36
CeleraX56,750,951 - 56,760,120 (+)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,038,171 - 50,047,349 (-)NCBIHuRef
CHM1_1X52,940,743 - 52,995,630 (-)NCBICHM1_1
FAM156B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v0X45,112,184 - 45,129,280 (+)NCBIMhudiblu_PPA_v0panPan3
FAM156B
(Chlorocebus sabaeus - African green monkey)
No map positions available.

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
DXS7726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,992,256 - 52,992,370UniSTSGRCh37
GRCh37X52,921,661 - 52,921,775UniSTSGRCh37
Build 36X52,938,386 - 52,938,500RGDNCBI36
CeleraX56,744,201 - 56,744,315RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,053,986 - 50,054,100UniSTS
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
UniSTS:55160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X52,990,927 - 52,991,147UniSTSGRCh37
GRCh37X52,922,884 - 52,923,108UniSTSGRCh37
Build 36X52,939,609 - 52,939,833RGDNCBI36
CeleraX56,745,424 - 56,745,648RGD
HuRefX50,052,653 - 50,052,877UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3336
Count of miRNA genes:823
Interacting mature miRNAs:952
Transcripts:ENST00000412319, ENST00000414788, ENST00000416841, ENST00000430150, ENST00000452021, ENST00000452154, ENST00000458697, ENST00000509613
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 7
Low 168 86 395 127 302 130 355 71 1455 155 285 301 5 19 217 4
Below cutoff 4485 5522 2702 829 2696 516 7952 4036 5696 401 2320 2672 324 2367 5170 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001099684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC234031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL772208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000416841   ⟹   ENSP00000424864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,898,550 - 52,908,560 (+)Ensembl
RefSeq Acc Id: ENST00000509613   ⟹   ENSP00000422411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,899,383 - 52,908,560 (+)Ensembl
RefSeq Acc Id: ENST00000593751   ⟹   ENSP00000469248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,897,400 - 52,908,556 (+)Ensembl
RefSeq Acc Id: ENST00000610405   ⟹   ENSP00000484983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,891,306 - 52,907,374 (+)Ensembl
RefSeq Acc Id: ENST00000610609   ⟹   ENSP00000479752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,896,941 - 52,907,236 (+)Ensembl
RefSeq Acc Id: ENST00000612188   ⟹   ENSP00000482608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,897,306 - 52,907,613 (+)Ensembl
RefSeq Acc Id: ENST00000616419   ⟹   ENSP00000483008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,897,313 - 52,908,560 (+)Ensembl
RefSeq Acc Id: ENST00000619346   ⟹   ENSP00000478064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX52,891,600 - 52,907,393 (+)Ensembl
RefSeq Acc Id: NM_001099684   ⟹   NP_001093154
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,899,059 - 52,908,560 (+)NCBI
GRCh37X52,920,629 - 52,937,587 (+)NCBI
Build 36X52,942,982 - 52,954,314 (+)NCBI Archive
HuRefX50,038,171 - 50,047,349 (-)NCBI
CHM1_1X52,940,743 - 52,995,630 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321178   ⟹   NP_001308107
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,897,341 - 52,908,560 (+)NCBI
GRCh38X52,897,330 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,968,084 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321179   ⟹   NP_001308108
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,897,341 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,968,084 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321180   ⟹   NP_001308109
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,898,567 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,985,752 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321181   ⟹   NP_001308110
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,891,592 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,983,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321182   ⟹   NP_001308111
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,897,341 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,995,630 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321183   ⟹   NP_001308112
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,896,941 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,968,084 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321186   ⟹   NP_001308115
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,891,592 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,983,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321187   ⟹   NP_001308116
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,897,341 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,968,079 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321188   ⟹   NP_001308117
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,898,155 - 52,908,560 (+)NCBI
CHM1_1X52,940,743 - 52,985,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530817   ⟹   XP_011529119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,897,296 - 52,908,560 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530821   ⟹   XP_011529123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,897,288 - 52,908,560 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452434   ⟹   XP_024308202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X52,897,422 - 52,908,560 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001093154   ⟸   NM_001099684
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529119   ⟸   XM_011530817
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529123   ⟸   XM_011530821
- Peptide Label: isoform X1
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308111   ⟸   NM_001321182
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308117   ⟸   NM_001321188
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308109   ⟸   NM_001321180
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308110   ⟸   NM_001321181
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308115   ⟸   NM_001321186
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308112   ⟸   NM_001321183
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308108   ⟸   NM_001321179
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308107   ⟸   NM_001321178
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308116   ⟸   NM_001321187
- UniProtKB: Q8NDB6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308202   ⟸   XM_024452434
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000484983   ⟸   ENST00000610405
RefSeq Acc Id: ENSP00000479752   ⟸   ENST00000610609
RefSeq Acc Id: ENSP00000482608   ⟸   ENST00000612188
RefSeq Acc Id: ENSP00000424864   ⟸   ENST00000416841
RefSeq Acc Id: ENSP00000422411   ⟸   ENST00000509613
RefSeq Acc Id: ENSP00000483008   ⟸   ENST00000616419
RefSeq Acc Id: ENSP00000478064   ⟸   ENST00000619346
RefSeq Acc Id: ENSP00000469248   ⟸   ENST00000593751

Promoters
RGD ID:6808855
Promoter ID:HG_KWN:66894
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000056696,   OTTHUMT00000056697,   OTTHUMT00000056698,   OTTHUMT00000056700,   OTTHUMT00000056703,   UC004DRH.1,   UC004DRL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X52,942,821 - 52,943,321 (+)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
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:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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)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 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: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: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 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 Xp22.33-11.21(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 Xp22.33-11.21(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-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 Xp22.33-11.1(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
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: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)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(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 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: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-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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: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-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 Xp22.33-11.1(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-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 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 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 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 Xp11.22-11.1(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 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 Xp22.33-11.22(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-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: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)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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
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 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 Xp11.23-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
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
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 Xp11.22(chrX:51476578-53087050)x0 copy number loss not provided [RCV000848734] ChrX:51476578..53087050 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.22(chrX:52733540-52954547)x2 copy number gain not provided [RCV001258946] ChrX:52733540..52954547 [GRCh37]
ChrX:Xp11.22
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: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:31962 AgrOrtholog
COSMIC FAM156B COSMIC
Ensembl Genes ENSG00000179304 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000268350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000422411 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000424864 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000469248 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000471676 UniProtKB/Swiss-Prot
  ENSP00000478064 UniProtKB/TrEMBL
  ENSP00000479184 UniProtKB/Swiss-Prot
  ENSP00000480373 UniProtKB/Swiss-Prot
  ENSP00000480518 UniProtKB/Swiss-Prot
  ENSP00000481435 UniProtKB/Swiss-Prot
  ENSP00000482142 UniProtKB/Swiss-Prot
  ENSP00000482608 UniProtKB/TrEMBL
  ENSP00000482980 UniProtKB/TrEMBL
  ENSP00000483008 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484167 UniProtKB/Swiss-Prot
  ENSP00000484983 UniProtKB/TrEMBL
  ENSP00000485247 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000416841 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509613 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000593751 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000596733 UniProtKB/Swiss-Prot
  ENST00000610405 UniProtKB/TrEMBL
  ENST00000611661 UniProtKB/Swiss-Prot
  ENST00000612188 UniProtKB/TrEMBL
  ENST00000612915 UniProtKB/Swiss-Prot
  ENST00000613284 UniProtKB/Swiss-Prot
  ENST00000615092 UniProtKB/Swiss-Prot
  ENST00000616419 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617970 UniProtKB/Swiss-Prot
  ENST00000618601 UniProtKB/TrEMBL
  ENST00000619346 UniProtKB/TrEMBL
  ENST00000622447 UniProtKB/Swiss-Prot
  ENST00000623782 UniProtKB/Swiss-Prot
GTEx ENSG00000179304 GTEx
  ENSG00000268350 GTEx
HGNC ID HGNC:31962 ENTREZGENE
Human Proteome Map FAM156B Human Proteome Map
InterPro Dppa3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29057 UniProtKB/Swiss-Prot
  hsa:727866 UniProtKB/Swiss-Prot
NCBI Gene 727866 ENTREZGENE
PANTHER PTHR31577 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PGC7_Stella UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162386699 PharmGKB
UniProt A0A087WZE8_HUMAN UniProtKB/TrEMBL
  A0A087WZZ1_HUMAN UniProtKB/TrEMBL
  A0A087X2H2_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 FAM156B  family with sequence similarity 156 member B    family with sequence similarity 156, member B  Symbol and/or name change 5135510 APPROVED