FAM133A (family with sequence similarity 133 member A) - Rat Genome Database

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Gene: FAM133A (family with sequence similarity 133 member A) Homo sapiens
Analyze
Symbol: FAM133A
Name: family with sequence similarity 133 member A
RGD ID: 1602817
HGNC Page HGNC
Description: ASSOCIATED WITH autistic disorder; Schizophrenia; syndromic X-linked intellectual disability Lubs type; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; butanal
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: cancer/testis antigen 115; CT115; family with sequence similarity 133, member A; FLJ37659; hypothetical protein LOC286499; RP1-32F7.2
RGD Orthologs
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: FAM133EP   FAM133FP   FAM133GP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX93,674,013 - 93,712,274 (+)EnsemblGRCh38hg38GRCh38
GRCh38X93,673,716 - 93,712,265 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X92,929,205 - 92,967,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X92,815,861 - 92,853,917 (+)NCBINCBI36hg18NCBI36
CeleraX93,454,260 - 93,492,515 (+)NCBI
Cytogenetic MapXq21.32NCBI
HuRefX82,751,260 - 82,789,830 (+)NCBIHuRef
CHM1_1X92,821,682 - 92,859,953 (+)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

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:12477932   PMID:14702039   PMID:16344560   PMID:25416956   PMID:27107012   PMID:28533407   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
FAM133A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX93,674,013 - 93,712,274 (+)EnsemblGRCh38hg38GRCh38
GRCh38X93,673,716 - 93,712,265 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X92,929,205 - 92,967,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X92,815,861 - 92,853,917 (+)NCBINCBI36hg18NCBI36
CeleraX93,454,260 - 93,492,515 (+)NCBI
Cytogenetic MapXq21.32NCBI
HuRefX82,751,260 - 82,789,830 (+)NCBIHuRef
CHM1_1X92,821,682 - 92,859,953 (+)NCBICHM1_1
Fam133a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0X95,062,119 - 95,235,281 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
CeleraX89,515,339 - 89,570,903 (+)NCBICelera
Cytogenetic MapX NCBI
Fam133a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555254,202,167 - 4,245,234 (+)NCBIChiLan1.0ChiLan1.0
FAM133A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X93,060,027 - 93,099,055 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX93,096,201 - 93,096,947 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X82,897,959 - 82,937,399 (+)NCBIMhudiblu_PPA_v0panPan3
FAM133A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X69,233,944 - 69,323,403 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX69,320,556 - 69,321,308 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX60,038,124 - 60,128,499 (+)NCBI
ROS_Cfam_1.0X70,604,383 - 70,694,867 (+)NCBI
UMICH_Zoey_3.1X68,233,591 - 68,339,669 (+)NCBI
UNSW_CanFamBas_1.0X69,890,328 - 69,979,885 (+)NCBI
UU_Cfam_GSD_1.0X69,483,340 - 69,572,888 (+)NCBI
Fam133a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X69,876,151 - 69,949,039 (-)NCBI
SpeTri2.0NW_004936649203,082 - 274,174 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM133A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX76,149,260 - 76,184,095 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X76,149,152 - 76,181,971 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X92,719,924 - 92,752,352 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM133A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X82,213,116 - 82,248,934 (+)NCBI
ChlSab1.1 EnsemblX82,247,963 - 82,248,709 (+)Ensembl

Position Markers
RH94163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X92,967,085 - 92,967,216UniSTSGRCh37
Build 36X92,853,741 - 92,853,872RGDNCBI36
CeleraX93,492,327 - 93,492,458RGD
Cytogenetic MapXq21.32UniSTS
HuRefX82,789,642 - 82,789,773UniSTS
GeneMap99-GB4 RH MapX268.56UniSTS
UniSTS:485734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X92,964,396 - 92,965,207UniSTSGRCh37
CeleraX93,489,638 - 93,490,449UniSTS
HuRefX82,786,953 - 82,787,764UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5440
Count of miRNA genes:788
Interacting mature miRNAs:911
Transcripts:ENST00000322139, ENST00000332647, ENST00000355813, ENST00000538690
Prediction methods:Microtar, Miranda, Pita
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 6 4 20 17 24 17 22 4 47 3 348 41 2
Low 66 1429 553 35 38 38 1014 46 3137 21 331 262 3 1 16 775 1
Below cutoff 1895 904 962 370 659 253 2496 1405 543 198 631 1038 121 852 1415 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK094978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL009173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA188870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA230927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA297338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA414074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB084469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322139   ⟹   ENSP00000318974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX93,674,013 - 93,712,274 (+)Ensembl
RefSeq Acc Id: ENST00000332647   ⟹   ENSP00000362169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX93,674,206 - 93,712,265 (+)Ensembl
RefSeq Acc Id: ENST00000683942   ⟹   ENSP00000507109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX93,674,206 - 93,712,265 (+)Ensembl
RefSeq Acc Id: NM_001171109   ⟹   NP_001164580
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,206 - 93,712,265 (+)NCBI
GRCh37X92,929,012 - 92,967,273 (+)RGD
CeleraX93,454,260 - 93,492,515 (+)RGD
HuRefX82,751,260 - 82,789,830 (+)ENTREZGENE
CHM1_1X92,821,682 - 92,859,953 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171110   ⟹   NP_001164581
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,206 - 93,712,265 (+)NCBI
GRCh37X92,929,012 - 92,967,273 (+)RGD
CeleraX93,454,260 - 93,492,515 (+)RGD
HuRefX82,751,260 - 82,789,830 (+)ENTREZGENE
CHM1_1X92,821,682 - 92,859,953 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171111   ⟹   NP_001164582
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,206 - 93,712,265 (+)NCBI
GRCh37X92,929,012 - 92,967,273 (+)RGD
CeleraX93,454,260 - 93,492,515 (+)RGD
HuRefX82,751,260 - 82,789,830 (+)ENTREZGENE
CHM1_1X92,821,682 - 92,859,953 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173698   ⟹   NP_775969
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,206 - 93,712,265 (+)NCBI
GRCh37X92,929,012 - 92,967,273 (+)RGD
Build 36X92,815,861 - 92,853,917 (+)NCBI Archive
CeleraX93,454,260 - 93,492,515 (+)RGD
HuRefX82,751,260 - 82,789,830 (+)ENTREZGENE
CHM1_1X92,821,682 - 92,859,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724641   ⟹   XP_006724704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,695,987 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530925   ⟹   XP_011529227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,040 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530926   ⟹   XP_011529228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,673,716 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530927   ⟹   XP_011529229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,313 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530928   ⟹   XP_011529230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,203 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530929   ⟹   XP_011529231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,203 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530931   ⟹   XP_011529233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,695,987 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029454   ⟹   XP_016884943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,203 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029455   ⟹   XP_016884944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,203 - 93,712,265 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029456   ⟹   XP_016884945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X93,674,040 - 93,712,265 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_775969   ⟸   NM_173698
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164580   ⟸   NM_001171109
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164581   ⟸   NM_001171110
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164582   ⟸   NM_001171111
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724704   ⟸   XM_006724641
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529228   ⟸   XM_011530926
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529227   ⟸   XM_011530925
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529231   ⟸   XM_011530929
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529230   ⟸   XM_011530928
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529229   ⟸   XM_011530927
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529233   ⟸   XM_011530931
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884945   ⟸   XM_017029456
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884943   ⟸   XM_017029454
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884944   ⟸   XM_017029455
- Peptide Label: isoform X1
- UniProtKB: Q8N9E0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362169   ⟸   ENST00000332647
RefSeq Acc Id: ENSP00000318974   ⟸   ENST00000322139
RefSeq Acc Id: ENSP00000507109   ⟸   ENST00000683942

Promoters
RGD ID:6809067
Promoter ID:HG_KWN:67432
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_001171109,   NM_001171110,   NM_001171111,   NM_173698,   OTTHUMT00000057450,   OTTHUMT00000057451
Position:
Human AssemblyChrPosition (strand)Source
Build 36X92,814,909 - 92,815,409 (-)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)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.31-21.32(chrX:91212699-94171410)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051711]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051711]|See cases [RCV000051711] ChrX:91212699..94171410 [GRCh38]
ChrX:90467698..93426409 [GRCh37]
ChrX:90354354..93313065 [NCBI36]
ChrX:Xq21.31-21.32
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 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: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: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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-21.32(chrX:92524632-93685697)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054218]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054218]|See cases [RCV000054218] ChrX:92524632..93685697 [GRCh38]
ChrX:91779631..92940696 [GRCh37]
ChrX:91666287..92827352 [NCBI36]
ChrX:Xq21.31-21.32
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
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-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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
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 Xq21.31-22.1(chrX:91225162-101026774)x1 copy number loss See cases [RCV000139915] ChrX:91225162..101026774 [GRCh38]
ChrX:90480161..100281763 [GRCh37]
ChrX:90366817..100168419 [NCBI36]
ChrX:Xq21.31-22.1
pathogenic
GRCh38/hg38 Xq21.32(chrX:93260274-93819899)x2 copy number gain See cases [RCV000139735] ChrX:93260274..93819899 [GRCh38]
ChrX:92515273..93074898 [GRCh37]
ChrX:92401929..92961554 [NCBI36]
ChrX:Xq21.32
uncertain significance
GRCh38/hg38 Xq21.31-22.1(chrX:87807750-100286152)x3 copy number gain See cases [RCV000141398] ChrX:87807750..100286152 [GRCh38]
ChrX:87062750..99541150 [GRCh37]
ChrX:86949406..99427806 [NCBI36]
ChrX:Xq21.31-22.1
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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
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 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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 Xq21.31-21.32(chrX:91125433-93074880)x0 copy number loss See cases [RCV000240060] ChrX:91125433..93074880 [GRCh37]
ChrX:Xq21.31-21.32
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [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 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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-21.33(chrX:91038450-96024832)x0 copy number loss See cases [RCV000240372] ChrX:91038450..96024832 [GRCh37]
ChrX:Xq21.31-21.33
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
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 Xq21.32(chrX:92675665-93434316)x3 copy number gain See cases [RCV000449432] ChrX:92675665..93434316 [GRCh37]
ChrX:Xq21.32
likely benign
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)x1 copy number loss See cases [RCV000446413] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-21.33(chrX:86794810-96275443)x1 copy number loss not provided [RCV000684355] ChrX:86794810..96275443 [GRCh37]
ChrX:Xq21.31-21.33
pathogenic
GRCh37/hg19 Xq21.31-21.33(chrX:91023672-97733935)x1 copy number loss not provided [RCV000684356] ChrX:91023672..97733935 [GRCh37]
ChrX:Xq21.31-21.33
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
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 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_173698.3(FAM133A):c.369G>C (p.Glu123Asp) single nucleotide variant not provided [RCV000903334] ChrX:93709788 [GRCh38]
ChrX:92964787 [GRCh37]
ChrX:Xq21.32
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.32(chrX:92457417-92981796)x2 copy number gain not provided [RCV000848591] ChrX:92457417..92981796 [GRCh37]
ChrX:Xq21.32
uncertain significance
GRCh37/hg19 Xq21.32-22.1(chrX:92939446-99556731)x1 copy number loss not provided [RCV000846976] ChrX:92939446..99556731 [GRCh37]
ChrX:Xq21.32-22.1
pathogenic
GRCh37/hg19 Xq21.32(chrX:92457417-92981796)x3 copy number gain not provided [RCV000848303] ChrX:92457417..92981796 [GRCh37]
ChrX:Xq21.32
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26748 AgrOrtholog
COSMIC FAM133A COSMIC
Ensembl Genes ENSG00000179083 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000318974 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362169 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000332647 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000179083 GTEx
HGNC ID HGNC:26748 ENTREZGENE
Human Proteome Map FAM133A Human Proteome Map
InterPro Fam133 UniProtKB/Swiss-Prot
KEGG Report hsa:286499 UniProtKB/Swiss-Prot
NCBI Gene 286499 ENTREZGENE
PANTHER PTHR31911 UniProtKB/Swiss-Prot
PharmGKB PA162386125 PharmGKB
UniProt F133A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM133A  family with sequence similarity 133 member A    family with sequence similarity 133, member A  Symbol and/or name change 5135510 APPROVED