IGSF1 (immunoglobulin superfamily member 1) - Rat Genome Database

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Gene: IGSF1 (immunoglobulin superfamily member 1) Homo sapiens
Analyze
Symbol: IGSF1
Name: immunoglobulin superfamily member 1
RGD ID: 1353839
HGNC Page HGNC
Description: Exhibits activin receptor antagonist activity and inhibin binding activity. Involved in negative regulation of activin receptor signaling pathway and regulation of transcription, DNA-templated. Localizes to membrane. Implicated in IGSF1 deficiency syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHTE; IGCD1; IGDC1; immunoglobulin superfamily, member 1; immunoglobulin-like domain-containing protein 1; INHBP; inhibin-binding protein; KIAA0364; MGC75490; p120; PGSF2; pituitary gland-specific factor 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX131,273,506 - 131,578,899 (-)EnsemblGRCh38hg38GRCh38
GRCh38X131,273,506 - 131,289,457 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X130,407,480 - 130,423,280 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X130,235,161 - 130,250,936 (-)NCBINCBI36hg18NCBI36
Build 34X130,143,676 - 130,148,790NCBI
CeleraX130,793,906 - 130,809,827 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX119,813,192 - 119,829,114 (-)NCBIHuRef
CHM1_1X130,319,050 - 130,334,972 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8125298   PMID:9205841   PMID:9521868   PMID:9729118   PMID:11076863   PMID:11266516   PMID:11344214   PMID:11854097   PMID:12421765   PMID:12477932   PMID:15489336   PMID:16344560  
PMID:16381901   PMID:18981173   PMID:23143598   PMID:23966245   PMID:24108313   PMID:25354429   PMID:25527509   PMID:25798074   PMID:26302767   PMID:26387489   PMID:26840047   PMID:27146357  
PMID:27310681   PMID:27762734   PMID:30021884   PMID:31504637   PMID:31650157  


Genomics

Comparative Map Data
IGSF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX131,273,506 - 131,578,899 (-)EnsemblGRCh38hg38GRCh38
GRCh38X131,273,506 - 131,289,457 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X130,407,480 - 130,423,280 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X130,235,161 - 130,250,936 (-)NCBINCBI36hg18NCBI36
Build 34X130,143,676 - 130,148,790NCBI
CeleraX130,793,906 - 130,809,827 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX119,813,192 - 119,829,114 (-)NCBIHuRef
CHM1_1X130,319,050 - 130,334,972 (-)NCBICHM1_1
Igsf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X48,871,413 - 48,886,798 (-)NCBIGRCm39mm39
GRCm39 EnsemblX48,871,413 - 48,886,626 (-)Ensembl
GRCm38X49,782,536 - 49,797,907 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX49,782,536 - 49,797,749 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X47,135,713 - 47,150,922 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X46,027,171 - 46,042,366 (-)NCBImm8
CeleraX37,219,207 - 37,234,409 (-)NCBICelera
Cytogenetic MapXA5NCBI
Igsf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X129,069,891 - 129,085,331 (-)NCBI
Rnor_6.0 EnsemblX136,792,643 - 136,807,885 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X136,792,637 - 136,808,107 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X136,852,218 - 136,867,621 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X136,291,193 - 136,306,435 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X136,364,625 - 136,379,868 (-)NCBI
CeleraX127,999,795 - 128,015,037 (-)NCBICelera
Cytogenetic MapXq36NCBI
Igsf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554733,699,517 - 3,715,514 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554733,702,471 - 3,715,506 (+)NCBIChiLan1.0ChiLan1.0
IGSF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X130,714,056 - 130,729,963 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX130,714,061 - 130,729,963 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X120,406,725 - 120,422,636 (-)NCBIMhudiblu_PPA_v0panPan3
IGSF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X102,359,980 - 102,376,838 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX102,359,986 - 102,377,018 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX88,533,700 - 88,550,251 (-)NCBI
ROS_Cfam_1.0X104,215,865 - 104,232,428 (-)NCBI
UMICH_Zoey_3.1X101,630,820 - 101,647,378 (-)NCBI
UNSW_CanFamBas_1.0X103,479,801 - 103,496,290 (-)NCBI
UU_Cfam_GSD_1.0X103,259,023 - 103,275,352 (-)NCBI
Igsf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X100,569,085 - 100,584,539 (-)NCBI
SpeTri2.0NW_004936479402,957 - 418,400 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGSF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX107,674,972 - 107,691,126 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X107,674,966 - 108,050,736 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X123,690,822 - 123,706,956 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IGSF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X106,486,902 - 106,536,622 (-)NCBI
ChlSab1.1 EnsemblX106,486,765 - 106,503,310 (-)Ensembl
Igsf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479710,780,294 - 10,795,750 (-)NCBI

Position Markers
AL022498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,423,387 - 130,423,576UniSTSGRCh37
Build 36X130,251,068 - 130,251,257RGDNCBI36
CeleraX130,809,811 - 130,810,000RGD
Cytogenetic MapXq25UniSTS
HuRefX119,829,098 - 119,829,287UniSTS
SHGC-33938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,414,148 - 130,414,285UniSTSGRCh37
Build 36X130,241,829 - 130,241,966RGDNCBI36
CeleraX130,800,574 - 130,800,711RGD
Cytogenetic MapXq25UniSTS
HuRefX119,819,859 - 119,819,996UniSTS
Stanford-G3 RH MapX3862.0UniSTS
GeneMap99-GB4 RH MapX313.29UniSTS
Whitehead-RH MapX285.1UniSTS
NCBI RH MapX669.7UniSTS
GeneMap99-G3 RH MapX4001.0UniSTS
STS-H78267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,418,306 - 130,418,448UniSTSGRCh37
Build 36X130,245,987 - 130,246,129RGDNCBI36
CeleraX130,804,732 - 130,804,874RGD
Cytogenetic MapXq25UniSTS
HuRefX119,824,017 - 119,824,159UniSTS
GeneMap99-GB4 RH MapX313.29UniSTS
NCBI RH MapX669.7UniSTS
sWXD1080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,410,163 - 130,410,222UniSTSGRCh37
Build 36X130,237,844 - 130,237,903RGDNCBI36
CeleraX130,796,589 - 130,796,648RGD
Cytogenetic MapXq25UniSTS
HuRefX119,815,874 - 119,815,933UniSTS
WI-13557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,407,524 - 130,407,673UniSTSGRCh37
Build 36X130,235,205 - 130,235,354RGDNCBI36
CeleraX130,793,950 - 130,794,099RGD
Cytogenetic MapXq25UniSTS
HuRefX119,813,236 - 119,813,385UniSTS
GeneMap99-GB4 RH MapX310.04UniSTS
Whitehead-RH MapX286.8UniSTS
RH16410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,414,296 - 130,414,417UniSTSGRCh37
Build 36X130,241,977 - 130,242,098RGDNCBI36
CeleraX130,800,722 - 130,800,843RGD
Cytogenetic MapXq25UniSTS
HuRefX119,820,007 - 119,820,128UniSTS
GeneMap99-GB4 RH MapX313.29UniSTS
NCBI RH MapX669.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3053
Count of miRNA genes:818
Interacting mature miRNAs:966
Transcripts:ENST00000361420, ENST00000370900, ENST00000370901, ENST00000370903, ENST00000370904, ENST00000370910, ENST00000467244, ENST00000469836
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 6 91 382 31 9 31 500 9 799 14 183 69 1 316
Low 1599 1670 851 221 217 135 1410 1247 2741 114 951 832 95 1 454 1045 4 2
Below cutoff 760 930 477 359 1077 286 2381 912 189 236 275 645 79 747 1417

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_205833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB058894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA195297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC250963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC311152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361420   ⟹   ENSP00000355010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,506 - 131,289,306 (-)Ensembl
RefSeq Acc Id: ENST00000370900   ⟹   ENSP00000359937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,284,166 - 131,289,060 (-)Ensembl
RefSeq Acc Id: ENST00000370901   ⟹   ENSP00000359938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,284,166 - 131,289,286 (-)Ensembl
RefSeq Acc Id: ENST00000370903   ⟹   ENSP00000359940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,506 - 131,289,306 (-)Ensembl
RefSeq Acc Id: ENST00000370904   ⟹   ENSP00000359941
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,511 - 131,578,899 (-)Ensembl
RefSeq Acc Id: ENST00000370910   ⟹   ENSP00000359947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,506 - 131,289,278 (-)Ensembl
RefSeq Acc Id: ENST00000467244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,275,979 - 131,277,517 (-)Ensembl
RefSeq Acc Id: ENST00000469836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,280,969 - 131,281,346 (-)Ensembl
RefSeq Acc Id: ENST00000650730   ⟹   ENSP00000498518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,274,758 - 131,275,148 (-)Ensembl
RefSeq Acc Id: ENST00000650945   ⟹   ENSP00000498530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,274,107 - 131,276,092 (-)Ensembl
RefSeq Acc Id: ENST00000651212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,277,991 - 131,279,225 (-)Ensembl
RefSeq Acc Id: ENST00000651402   ⟹   ENSP00000498744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,614 - 131,282,988 (-)Ensembl
RefSeq Acc Id: ENST00000651526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,764 - 131,279,022 (-)Ensembl
RefSeq Acc Id: ENST00000651556   ⟹   ENSP00000498789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,547 - 131,289,463 (-)Ensembl
RefSeq Acc Id: ENST00000651744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,286,144 - 131,289,429 (-)Ensembl
RefSeq Acc Id: ENST00000652004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,286,136 - 131,289,457 (-)Ensembl
RefSeq Acc Id: ENST00000652189   ⟹   ENSP00000498607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX131,273,541 - 131,289,457 (-)Ensembl
RefSeq Acc Id: NM_001170961   ⟹   NP_001164432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,273,506 - 131,289,306 (-)NCBI
GRCh37X130,407,480 - 130,423,403 (-)RGD
CeleraX130,793,906 - 130,809,827 (-)RGD
HuRefX119,813,192 - 119,829,114 (-)RGD
CHM1_1X130,319,050 - 130,334,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170962   ⟹   NP_001164433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,273,506 - 131,289,306 (-)NCBI
GRCh37X130,407,480 - 130,423,403 (-)RGD
CeleraX130,793,906 - 130,809,827 (-)RGD
HuRefX119,813,192 - 119,829,114 (-)RGD
CHM1_1X130,319,050 - 130,334,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170963   ⟹   NP_001164434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,284,166 - 131,289,061 (-)NCBI
GRCh37X130,407,480 - 130,423,403 (-)RGD
CeleraX130,793,906 - 130,809,827 (-)RGD
HuRefX119,813,192 - 119,829,114 (-)RGD
CHM1_1X130,329,709 - 130,334,604 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001555   ⟹   NP_001546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,273,506 - 131,289,306 (-)NCBI
GRCh37X130,407,480 - 130,423,403 (-)RGD
Build 36X130,235,161 - 130,250,936 (-)NCBI Archive
CeleraX130,793,906 - 130,809,827 (-)RGD
HuRefX119,813,192 - 119,829,114 (-)RGD
CHM1_1X130,319,050 - 130,334,972 (-)NCBI
Sequence:
RefSeq Acc Id: NM_205833   ⟹   NP_991402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,284,166 - 131,289,306 (-)NCBI
GRCh37X130,407,480 - 130,423,403 (-)RGD
Build 36X130,245,823 - 130,250,936 (-)NCBI Archive
CeleraX130,793,906 - 130,809,827 (-)RGD
HuRefX119,813,192 - 119,829,114 (-)RGD
CHM1_1X130,329,709 - 130,334,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531330   ⟹   XP_011529632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,273,506 - 131,289,457 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531333   ⟹   XP_011529635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,273,506 - 131,289,303 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531334   ⟹   XP_011529636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,273,506 - 131,289,303 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001546   ⟸   NM_001555
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N6C5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164432   ⟸   NM_001170961
- Peptide Label: isoform 3 precursor
- UniProtKB: Q8N6C5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164433   ⟸   NM_001170962
- Peptide Label: isoform 4
- UniProtKB: Q8N6C5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_991402   ⟸   NM_205833
- Peptide Label: isoform 2 precursor
- UniProtKB: Q8N6C5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164434   ⟸   NM_001170963
- Peptide Label: isoform 2 precursor
- UniProtKB: Q8N6C5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529632   ⟸   XM_011531330
- Peptide Label: isoform X1
- UniProtKB: Q8N6C5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529636   ⟸   XM_011531334
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529635   ⟸   XM_011531333
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000359937   ⟸   ENST00000370900
RefSeq Acc Id: ENSP00000359938   ⟸   ENST00000370901
RefSeq Acc Id: ENSP00000359940   ⟸   ENST00000370903
RefSeq Acc Id: ENSP00000359941   ⟸   ENST00000370904
RefSeq Acc Id: ENSP00000359947   ⟸   ENST00000370910
RefSeq Acc Id: ENSP00000355010   ⟸   ENST00000361420
RefSeq Acc Id: ENSP00000498530   ⟸   ENST00000650945
RefSeq Acc Id: ENSP00000498518   ⟸   ENST00000650730
RefSeq Acc Id: ENSP00000498789   ⟸   ENST00000651556
RefSeq Acc Id: ENSP00000498744   ⟸   ENST00000651402
RefSeq Acc Id: ENSP00000498607   ⟸   ENST00000652189
Protein Domains
Ig-like   Ig-like C2-type

Promoters
RGD ID:13628114
Promoter ID:EPDNEW_H29332
Type:initiation region
Name:IGSF1_1
Description:immunoglobulin superfamily member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X131,289,286 - 131,289,346EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001555.5(IGSF1):c.2896+1del deletion not provided [RCV000522407] ChrX:131275960 [GRCh38]
ChrX:130409934 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001555.5(IGSF1):c.2123_2149del (p.Ala708_Lys716del) deletion Hypothyroidism, central, and testicular enlargement [RCV000033076] ChrX:131278027..131278053 [GRCh38]
ChrX:130412001..130412027 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_001555.5(IGSF1):c.2916G>A (p.Trp972Ter) single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000033077] ChrX:131275746 [GRCh38]
ChrX:130409720 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_001555.5(IGSF1):c.2233del (p.Glu745fs) deletion Hypothyroidism, central, and testicular enlargement [RCV000033078] ChrX:131277943 [GRCh38]
ChrX:130411917 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_001555.5(IGSF1):c.2573C>T (p.Ser858Phe) single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000033079] ChrX:131276974 [GRCh38]
ChrX:130410948 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs) duplication Hypothyroidism, central, and testicular enlargement [RCV000033080] ChrX:131274768..131274769 [GRCh38]
ChrX:130408742..130408743 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
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 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 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.1-26.2(chrX:131042072-131826589)x1 copy number loss See cases [RCV000051730] ChrX:131042072..131826589 [GRCh38]
ChrX:130176046..130960617 [GRCh37]
ChrX:130003727..130788298 [NCBI36]
ChrX:Xq26.1-26.2
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 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 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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
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-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
NM_001170961.1(IGSF1):c.3514G>C (p.Ala1172Pro) single nucleotide variant Malignant melanoma [RCV000073077] ChrX:131274851 [GRCh38]
ChrX:130408825 [GRCh37]
ChrX:130236506 [NCBI36]
ChrX:Xq26.1
not provided
NM_001170961.1(IGSF1):c.3457C>T (p.His1153Tyr) single nucleotide variant Malignant melanoma [RCV000073078] ChrX:131275029 [GRCh38]
ChrX:130409003 [GRCh37]
ChrX:130236684 [NCBI36]
ChrX:Xq26.1
not provided
NM_001170961.1(IGSF1):c.2528C>T (p.Ser843Leu) single nucleotide variant Malignant melanoma [RCV000073079] ChrX:131277034 [GRCh38]
ChrX:130411008 [GRCh37]
ChrX:130238689 [NCBI36]
ChrX:Xq26.1
not provided
NM_001170961.1(IGSF1):c.2121G>A (p.Arg707=) single nucleotide variant Malignant melanoma [RCV000073080] ChrX:131278070 [GRCh38]
ChrX:130412044 [GRCh37]
ChrX:130239725 [NCBI36]
ChrX:Xq26.1
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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: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: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:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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: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 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
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 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
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: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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(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 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 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 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 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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
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 Xq26.1-26.2(chrX:129760788-132675352)x0 copy number loss See cases [RCV000239967] ChrX:129760788..132675352 [GRCh37]
ChrX:Xq26.1-26.2
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 Xq26.2(chrX:130418587-131014440)x3 copy number gain See cases [RCV000511326] ChrX:130418587..131014440 [GRCh37]
ChrX:Xq26.2
uncertain significance
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 Xq26.1-26.2(chrX:129796796-132686500)x0 copy number loss See cases [RCV000240002] ChrX:129796796..132686500 [GRCh37]
ChrX:Xq26.1-26.2
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 Xq26.1-26.2(chrX:129863980-130725078)x2 copy number gain See cases [RCV000240266] ChrX:129863980..130725078 [GRCh37]
ChrX:Xq26.1-26.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001555.5(IGSF1):c.1347A>G (p.Glu449=) single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000606574]|not specified [RCV000251275] ChrX:131281844 [GRCh38]
ChrX:130415818 [GRCh37]
ChrX:Xq26.1
benign
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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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
NM_001555.5(IGSF1):c.3579C>T (p.Val1193=) single nucleotide variant not specified [RCV000247448] ChrX:131274771 [GRCh38]
ChrX:130408745 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.2556T>C (p.Tyr852=) single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000602855]|not specified [RCV000242858] ChrX:131276991 [GRCh38]
ChrX:130410965 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.948G>A (p.Val316=) single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000614725]|not specified [RCV000250807] ChrX:131282984 [GRCh38]
ChrX:130416958 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.1324C>T (p.Arg442Ter) single nucleotide variant not provided [RCV000578855] ChrX:131281867 [GRCh38]
ChrX:130415841 [GRCh37]
ChrX:Xq26.1
likely 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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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 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: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 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
NM_001555.5(IGSF1):c.1718-24T>G single nucleotide variant not provided [RCV000423801] ChrX:131279199 [GRCh38]
ChrX:130413173 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely 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
NM_001555.5(IGSF1):c.3887_3888del (p.Thr1296fs) deletion not provided [RCV000479275] ChrX:131273919..131273920 [GRCh38]
ChrX:130407893..130407894 [GRCh37]
ChrX:Xq26.1
uncertain significance
NM_001555.5(IGSF1):c.3662T>C (p.Ile1221Thr) single nucleotide variant not provided [RCV000484945] ChrX:131274688 [GRCh38]
ChrX:130408662 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891328)x3 copy number gain See cases [RCV000512574] ChrX:130158315..130891328 [GRCh37]
ChrX:Xq26.1-26.2
likely benign
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 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130275176-131011974)x3 copy number gain not provided [RCV000684391] ChrX:130275176..131011974 [GRCh37]
ChrX:Xq26.1-26.2
likely benign
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
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 Xq26.1-26.2(chrX:130285426-131051012)x3 copy number gain not provided [RCV000753775] ChrX:130285426..131051012 [GRCh37]
ChrX:Xq26.1-26.2
benign
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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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
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
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001555.5(IGSF1):c.114= (p.Pro38=) variation not provided [RCV000958372] ChrX:131286032 [GRCh38]
ChrX:130420006 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.93= (p.Ser31=) variation not provided [RCV000958373] ChrX:131286441 [GRCh38]
ChrX:130420415 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.1247-8G>C single nucleotide variant not provided [RCV000883867] ChrX:131281952 [GRCh38]
ChrX:130415926 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.1141A>C (p.Asn381His) single nucleotide variant not provided [RCV000884351] ChrX:131282549 [GRCh38]
ChrX:130416523 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.3228G>C (p.Met1076Ile) single nucleotide variant not provided [RCV000881834] ChrX:131275243 [GRCh38]
ChrX:130409217 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.1184T>G (p.Leu395Arg) single nucleotide variant not provided [RCV000971987] ChrX:131282506 [GRCh38]
ChrX:130416480 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.380-8C>T single nucleotide variant not provided [RCV000902477] ChrX:131285474 [GRCh38]
ChrX:130419448 [GRCh37]
ChrX:Xq26.1
likely benign
NM_001555.5(IGSF1):c.2407dup (p.His803fs) duplication Hypothyroidism, central, and testicular enlargement [RCV000995567] ChrX:131277139..131277140 [GRCh38]
ChrX:130411113..130411114 [GRCh37]
ChrX:Xq26.1
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Infantile nystagmus, X-linked [RCV000767808] ChrX:130280298..132670366 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
NM_001555.5(IGSF1):c.668-8G>A single nucleotide variant not provided [RCV000908365] ChrX:131283272 [GRCh38]
ChrX:130417246 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.1796A>C (p.Asn599Thr) single nucleotide variant not provided [RCV000959993] ChrX:131278706 [GRCh38]
ChrX:130412680 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.522C>T (p.Tyr174=) single nucleotide variant not provided [RCV000903587] ChrX:131285324 [GRCh38]
ChrX:130419298 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.3376G>A (p.Gly1126Ser) single nucleotide variant not provided [RCV000958371] ChrX:131275095 [GRCh38]
ChrX:130409069 [GRCh37]
ChrX:Xq26.1
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130071456-130886364)x2 copy number gain not provided [RCV000849916] ChrX:130071456..130886364 [GRCh37]
ChrX:Xq26.1-26.2
uncertain significance
GRCh37/hg19 Xq26.1-26.2(chrX:130152544-130894737)x3 copy number gain not provided [RCV000849709] ChrX:130152544..130894737 [GRCh37]
ChrX:Xq26.1-26.2
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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
NM_001555.5(IGSF1):c.2844C>T (p.Thr948=) single nucleotide variant not provided [RCV000917312] ChrX:131276013 [GRCh38]
ChrX:130409987 [GRCh37]
ChrX:Xq26.1
likely benign
NM_001555.5(IGSF1):c.2268dup (p.Arg757fs) duplication Hypothyroidism, central, and testicular enlargement [RCV000850405] ChrX:131277907..131277908 [GRCh38]
ChrX:130411881..130411882 [GRCh37]
ChrX:Xq26.1
pathogenic
NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro) single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV000850406] ChrX:131277873 [GRCh38]
ChrX:130411847 [GRCh37]
ChrX:Xq26.1
pathogenic
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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
NM_001555.5(IGSF1):c.2939T>C (p.Val980Ala) single nucleotide variant not provided [RCV000970028] ChrX:131275723 [GRCh38]
ChrX:130409697 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.2727G>A (p.Glu909=) single nucleotide variant not provided [RCV000920426] ChrX:131276130 [GRCh38]
ChrX:130410104 [GRCh37]
ChrX:Xq26.1
likely benign
NM_001555.5(IGSF1):c.2148G>A (p.Lys716=) single nucleotide variant not provided [RCV000890425] ChrX:131278028 [GRCh38]
ChrX:130412002 [GRCh37]
ChrX:Xq26.1
benign
NM_001555.5(IGSF1):c.732G>A (p.Leu244=) single nucleotide variant not provided [RCV000958262] ChrX:131283200 [GRCh38]
ChrX:130417174 [GRCh37]
ChrX:Xq26.1
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 Xq26.1-26.2(chrX:130158315-130891325)x3 copy number gain not provided [RCV001007347] ChrX:130158315..130891325 [GRCh37]
ChrX:Xq26.1-26.2
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
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
NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter) single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV001335742] ChrX:131274800 [GRCh38]
ChrX:130408774 [GRCh37]
ChrX:Xq26.1
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
NM_001555.5(IGSF1):c.1751-1G>C single nucleotide variant Hypothyroidism, central, and testicular enlargement [RCV001335741] ChrX:131278752 [GRCh38]
ChrX:130412726 [GRCh37]
ChrX:Xq26.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5948 AgrOrtholog
COSMIC IGSF1 COSMIC
Ensembl Genes ENSG00000147255 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359938 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359940 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359941 UniProtKB/Swiss-Prot
  ENSP00000359947 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498518 UniProtKB/TrEMBL
  ENSP00000498530 UniProtKB/TrEMBL
  ENSP00000498607 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000498744 UniProtKB/TrEMBL
  ENSP00000498789 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361420 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370901 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370903 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370904 UniProtKB/Swiss-Prot
  ENST00000370910 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000650730 UniProtKB/TrEMBL
  ENST00000650945 UniProtKB/TrEMBL
  ENST00000651402 UniProtKB/TrEMBL
  ENST00000651556 UniProtKB/Swiss-Prot
  ENST00000652189 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147255 GTEx
HGNC ID HGNC:5948 ENTREZGENE
Human Proteome Map IGSF1 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunoglobulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3547 UniProtKB/Swiss-Prot
NCBI Gene 3547 ENTREZGENE
OMIM 300137 OMIM
  300888 OMIM
Pfam Ig_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29761 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0E7_HUMAN UniProtKB/TrEMBL
  A0A494C0H8_HUMAN UniProtKB/TrEMBL
  A0A494C0K8_HUMAN UniProtKB/TrEMBL
  A0A494C0W8_HUMAN UniProtKB/TrEMBL
  IGSF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B5MEG2 UniProtKB/Swiss-Prot
  H9KV64 UniProtKB/Swiss-Prot
  O15070 UniProtKB/Swiss-Prot
  Q9NTC8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 IGSF1  immunoglobulin superfamily member 1    immunoglobulin superfamily, member 1  Symbol and/or name change 5135510 APPROVED