IGBP1 (immunoglobulin binding protein 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: IGBP1 (immunoglobulin binding protein 1) Homo sapiens
Analyze
Symbol: IGBP1
Name: immunoglobulin binding protein 1
RGD ID: 732872
HGNC Page HGNC
Description: Exhibits protein phosphatase regulator activity. Involved in several processes, including negative regulation of nitrogen compound metabolic process; negative regulation of stress-activated MAPK cascade; and response to interleukin-1. Predicted to localize to cytosol and microtubule. Implicated in corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALPHA-4; alpha4; B cell signal transduction molecule alpha 4; B-cell signal transduction molecule alpha 4; bA351K23.1 (immunoglobulin binding protein 1 (CD79A) ); CD79a-binding protein 1; IBP1; immunoglobulin (CD79A) binding protein 1; immunoglobulin-binding protein 1; protein phosphatase 2/4/6 regulatory subunit; protein phosphatase 2A, regulatory subunit alpha-4; renal carcinoma antigen NY-REN-16
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC073387.2   IGBP1P1   IGBP1P2   IGBP1P3   IGBP1P4   IGBP1P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX70,133,447 - 70,166,324 (+)EnsemblGRCh38hg38GRCh38
GRCh38X70,133,447 - 70,166,324 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X69,353,297 - 69,386,174 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X69,270,043 - 69,302,899 (+)NCBINCBI36hg18NCBI36
Build 34X69,136,338 - 69,169,192NCBI
CeleraX69,706,683 - 69,739,540 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX63,174,076 - 63,207,564 (+)NCBIHuRef
CHM1_1X69,246,939 - 69,279,788 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:9441740   PMID:9647778   PMID:10441131   PMID:10508479   PMID:11371618   PMID:11685209   PMID:11806752   PMID:12477932   PMID:14556245   PMID:14702039   PMID:15489334   PMID:15772651  
PMID:16085932   PMID:16434393   PMID:16517231   PMID:16769727   PMID:17438131   PMID:18029348   PMID:18186651   PMID:18247557   PMID:18614045   PMID:18715871   PMID:18782753   PMID:18949047  
PMID:19156129   PMID:19553685   PMID:20092282   PMID:20237496   PMID:20360068   PMID:20473970   PMID:20544796   PMID:21339737   PMID:21355954   PMID:21454489   PMID:21832049   PMID:21873635  
PMID:21988832   PMID:22194938   PMID:22613722   PMID:22939629   PMID:23349634   PMID:23414517   PMID:23591866   PMID:23740247   PMID:23892082   PMID:24145130   PMID:24255178   PMID:24388773  
PMID:24484909   PMID:24778252   PMID:24999758   PMID:25207814   PMID:25277244   PMID:25281560   PMID:25468996   PMID:25876659   PMID:26344197   PMID:26496610   PMID:26876307   PMID:26972000  
PMID:27169767   PMID:27684187   PMID:27880917   PMID:28330616   PMID:28548391   PMID:29499308   PMID:29555726   PMID:30166453   PMID:30945288   PMID:31137925   PMID:31809976   PMID:32183589  
PMID:32296183   PMID:32694731   PMID:32814053  


Genomics

Comparative Map Data
IGBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX70,133,447 - 70,166,324 (+)EnsemblGRCh38hg38GRCh38
GRCh38X70,133,447 - 70,166,324 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X69,353,297 - 69,386,174 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X69,270,043 - 69,302,899 (+)NCBINCBI36hg18NCBI36
Build 34X69,136,338 - 69,169,192NCBI
CeleraX69,706,683 - 69,739,540 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX63,174,076 - 63,207,564 (+)NCBIHuRef
CHM1_1X69,246,939 - 69,279,788 (+)NCBICHM1_1
Igbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X99,537,897 - 99,559,731 (+)NCBIGRCm39mm39
GRCm39 EnsemblX99,537,897 - 99,559,731 (+)Ensembl
GRCm38X100,494,291 - 100,516,125 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX100,494,291 - 100,516,125 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X97,689,630 - 97,711,464 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X96,697,064 - 96,718,720 (+)NCBImm8
CeleraX87,420,356 - 87,442,287 (+)NCBICelera
Cytogenetic MapXC3NCBI
Igbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X65,582,832 - 65,605,078 (+)NCBI
Rnor_6.0 EnsemblX70,322,755 - 70,345,005 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X70,322,764 - 70,345,005 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X71,194,717 - 71,216,957 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X88,490,498 - 88,507,054 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X88,566,669 - 88,580,484 (+)NCBI
CeleraX65,942,243 - 65,964,485 (+)NCBICelera
Cytogenetic MapXq22NCBI
Igbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554759,671,162 - 9,694,926 (+)NCBIChiLan1.0ChiLan1.0
IGBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X69,460,736 - 69,493,616 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX69,460,734 - 69,493,616 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X59,401,426 - 59,434,363 (+)NCBIMhudiblu_PPA_v0panPan3
IGBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X54,558,515 - 54,612,029 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX54,547,446 - 54,613,171 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX45,384,171 - 45,437,674 (+)NCBI
ROS_Cfam_1.0X55,524,457 - 55,577,975 (+)NCBI
UMICH_Zoey_3.1X53,493,501 - 53,547,031 (+)NCBI
UNSW_CanFamBas_1.0X54,824,297 - 54,877,823 (+)NCBI
UU_Cfam_GSD_1.0X54,751,460 - 54,804,992 (+)NCBI
Igbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X47,530,398 - 47,557,161 (-)NCBI
SpeTri2.0NW_0049367621,292,572 - 1,319,145 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X56,173,773 - 56,206,121 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X63,371,489 - 63,403,353 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IGBP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X59,970,740 - 60,008,066 (+)NCBI
ChlSab1.1 EnsemblX59,971,234 - 60,008,047 (+)Ensembl
Vero_WHO_p1.0NW_0236660651,827,501 - 1,859,929 (+)NCBI
Igbp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462490371,212 - 94,470 (+)NCBI

Position Markers
RH12518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,385,931 - 69,386,092UniSTSGRCh37
Build 36X69,302,656 - 69,302,817RGDNCBI36
CeleraX69,739,297 - 69,739,458RGD
Cytogenetic MapXq13.1-q13.3UniSTS
HuRefX63,207,321 - 63,207,482UniSTS
GeneMap99-GB4 RH MapX231.63UniSTS
G59889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,357,357 - 69,357,506UniSTSGRCh37
Build 36X69,274,082 - 69,274,231RGDNCBI36
CeleraX69,710,722 - 69,710,871RGD
Cytogenetic MapXq13.1-q13.3UniSTS
HuRefX63,178,129 - 63,178,278UniSTS
TNG Radiation Hybrid MapX23195.0UniSTS
A006Y20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,385,982 - 69,386,160UniSTSGRCh37
Build 36X69,302,707 - 69,302,885RGDNCBI36
CeleraX69,739,348 - 69,739,526RGD
Cytogenetic MapXq13.1-q13.3UniSTS
HuRefX63,207,372 - 63,207,550UniSTS
GeneMap99-GB4 RH MapX238.5UniSTS
NCBI RH MapX385.1UniSTS
RH48563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,357,345 - 69,357,506UniSTSGRCh37
Build 36X69,274,070 - 69,274,231RGDNCBI36
CeleraX69,710,710 - 69,710,871RGD
Cytogenetic MapXq13.1-q13.3UniSTS
HuRefX63,178,117 - 63,178,278UniSTS
GeneMap99-GB4 RH MapX234.82UniSTS
NCBI RH MapX380.1UniSTS
AF020140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,377,691 - 69,377,766UniSTSGRCh37
Build 36X69,294,416 - 69,294,491RGDNCBI36
CeleraX69,731,056 - 69,731,131RGD
Cytogenetic MapXq13.1-q13.3UniSTS
HuRefX63,199,081 - 63,199,156UniSTS
SHGC-2602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,385,967 - 69,386,118UniSTSGRCh37
Build 36X69,302,692 - 69,302,843RGDNCBI36
CeleraX69,739,333 - 69,739,484RGD
Cytogenetic MapXq13.1-q13.3UniSTS
HuRefX63,207,357 - 63,207,508UniSTS
GeneMap99-G3 RH MapX2145.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:522
Count of miRNA genes:237
Interacting mature miRNAs:246
Transcripts:ENST00000342206, ENST00000356413
Prediction methods: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 2432 2880 1631 530 1917 372 4355 2123 3607 417 1448 1608 171 1204 2788 4
Low 6 110 95 94 34 93 1 74 126 2 12 4 3 1 2 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK054596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342206   ⟹   ENSP00000363661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,133,449 - 70,166,324 (+)Ensembl
RefSeq Acc Id: ENST00000356413   ⟹   ENSP00000348784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,133,447 - 70,166,324 (+)Ensembl
RefSeq Acc Id: NM_001370192   ⟹   NP_001357121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,447 - 70,166,324 (+)NCBI
RefSeq Acc Id: NM_001370193   ⟹   NP_001357122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,447 - 70,166,324 (+)NCBI
RefSeq Acc Id: NM_001370194   ⟹   NP_001357123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,935 - 70,166,324 (+)NCBI
RefSeq Acc Id: NM_001551   ⟹   NP_001542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,447 - 70,166,324 (+)NCBI
GRCh37X69,353,318 - 69,386,174 (+)ENTREZGENE
Build 36X69,270,043 - 69,302,899 (+)NCBI Archive
HuRefX63,174,076 - 63,207,564 (+)ENTREZGENE
CHM1_1X69,246,939 - 69,279,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029489   ⟹   XP_016884978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,449 - 70,166,324 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958775
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,449 - 70,166,324 (+)NCBI
Sequence:
RefSeq Acc Id: XR_938398
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,449 - 70,166,324 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001542   ⟸   NM_001551
- Peptide Label: isoform 1
- UniProtKB: P78318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884978   ⟸   XM_017029489
- Peptide Label: isoform X1
- UniProtKB: P78318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001357121   ⟸   NM_001370192
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357122   ⟸   NM_001370193
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001357123   ⟸   NM_001370194
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000363661   ⟸   ENST00000342206
RefSeq Acc Id: ENSP00000348784   ⟸   ENST00000356413
Protein Domains
UIM

Promoters
RGD ID:6808945
Promoter ID:HG_KWN:67116
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057052,   OTTHUMT00000057053
Position:
Human AssemblyChrPosition (strand)Source
Build 36X69,269,786 - 69,270,702 (+)MPROMDB
RGD ID:13627363
Promoter ID:EPDNEW_H28956
Type:initiation region
Name:IGBP1_2
Description:immunoglobulin binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28957  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,460 - 70,133,520EPDNEW
RGD ID:13627361
Promoter ID:EPDNEW_H28957
Type:multiple initiation site
Name:IGBP1_1
Description:immunoglobulin binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,133,935 - 70,133,995EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
IGBP1, -57delT and -55T-A, 5-PRIME UTR deletion Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [RCV000012329] ChrX:Xq13.1-q13.3 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
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 Xq13.1(chrX:69880987-70415042)x3 copy number gain See cases [RCV000051136] ChrX:69880987..70415042 [GRCh38]
ChrX:69100823..69634892 [GRCh37]
ChrX:69017548..69551617 [NCBI36]
ChrX:Xq13.1
uncertain significance
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 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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq13.1(chrX:69880987-70512644)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|See cases [RCV000054209] ChrX:69880987..70512644 [GRCh38]
ChrX:69100823..69732494 [GRCh37]
ChrX:69017548..69649219 [NCBI36]
ChrX:Xq13.1
uncertain significance
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) single nucleotide variant not provided [RCV000951166]|not specified [RCV000079718] ChrX:70134651 [GRCh38]
ChrX:69354501 [GRCh37]
ChrX:Xq13.1
benign|likely benign
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 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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-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 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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 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 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 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1 copy number loss See cases [RCV000142507] ChrX:69839596..70301821 [GRCh38]
ChrX:69059438..69521671 [GRCh37]
ChrX:68976163..69438396 [NCBI36]
ChrX:Xq13.1
likely pathogenic|uncertain significance
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 Xq13.1(chrX:69991690-70536572)x2 copy number gain See cases [RCV000143093] ChrX:69991690..70536572 [GRCh38]
ChrX:69211540..69756422 [GRCh37]
ChrX:69128265..69673147 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001551.3(IGBP1):c.608T>C (p.Ile203Thr) single nucleotide variant not provided [RCV000953119]|not specified [RCV000594197] ChrX:70146758 [GRCh38]
ChrX:69366608 [GRCh37]
ChrX:Xq13.1
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 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 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
NM_001551.3(IGBP1):c.715C>T (p.Pro239Ser) single nucleotide variant not specified [RCV000503561] ChrX:70148797 [GRCh38]
ChrX:69368647 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_001551.3(IGBP1):c.872-4T>G single nucleotide variant not specified [RCV000501396] ChrX:70165829 [GRCh38]
ChrX:69385679 [GRCh37]
ChrX:Xq13.1
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 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001551.3(IGBP1):c.872-3T>C single nucleotide variant not specified [RCV000500497] ChrX:70165830 [GRCh38]
ChrX:69385680 [GRCh37]
ChrX:Xq13.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xq13.1(chrX:68903474-69583031)x3 copy number gain See cases [RCV000511184] ChrX:68903474..69583031 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xq13.1(chrX:69013432-69431334)x1 copy number loss not provided [RCV000684344] ChrX:69013432..69431334 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001551.3(IGBP1):c.15C>T (p.Asp5=) single nucleotide variant not provided [RCV000881461] ChrX:70133962 [GRCh38]
ChrX:69353812 [GRCh37]
ChrX:Xq13.1
benign
NM_001551.3(IGBP1):c.597G>A (p.Arg199=) single nucleotide variant not provided [RCV000905814] ChrX:70146747 [GRCh38]
ChrX:69366597 [GRCh37]
ChrX:Xq13.1
benign
NM_001551.3(IGBP1):c.824G>A (p.Arg275Gln) single nucleotide variant not provided [RCV000924397] ChrX:70150275 [GRCh38]
ChrX:69370125 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001551.3(IGBP1):c.303T>C (p.His101=) single nucleotide variant not provided [RCV000897424] ChrX:70134637 [GRCh38]
ChrX:69354487 [GRCh37]
ChrX:Xq13.1
likely benign
NM_001551.3(IGBP1):c.99C>T (p.Ala33=) single nucleotide variant not provided [RCV000967607] ChrX:70134046 [GRCh38]
ChrX:69353896 [GRCh37]
ChrX:Xq13.1
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001551.3(IGBP1):c.882A>G (p.Arg294=) single nucleotide variant not provided [RCV000889427] ChrX:70165843 [GRCh38]
ChrX:69385693 [GRCh37]
ChrX:Xq13.1
likely benign
GRCh37/hg19 Xq13.1(chrX:69218433-69535034)x3 copy number gain not provided [RCV001259002] ChrX:69218433..69535034 [GRCh37]
ChrX:Xq13.1
uncertain significance
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_001551.3(IGBP1):c.37C>G (p.Pro13Ala) single nucleotide variant Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [RCV001328851] ChrX:70133984 [GRCh38]
ChrX:69353834 [GRCh37]
ChrX:Xq13.1
uncertain significance
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_001551.3(IGBP1):c.995A>G (p.Tyr332Cys) single nucleotide variant Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [RCV001328852] ChrX:70165956 [GRCh38]
ChrX:69385806 [GRCh37]
ChrX:Xq13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5461 AgrOrtholog
COSMIC IGBP1 COSMIC
Ensembl Genes ENSG00000089289 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000348784 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363661 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342206 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356413 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.540 UniProtKB/Swiss-Prot
GTEx ENSG00000089289 GTEx
HGNC ID HGNC:5461 ENTREZGENE
Human Proteome Map IGBP1 Human Proteome Map
InterPro TAP42/TAP46-like_sf UniProtKB/Swiss-Prot
  TAP46-like UniProtKB/Swiss-Prot
KEGG Report hsa:3476 UniProtKB/Swiss-Prot
NCBI Gene 3476 ENTREZGENE
OMIM 300139 OMIM
  300472 OMIM
PANTHER PTHR10933 UniProtKB/Swiss-Prot
Pfam TAP42 UniProtKB/Swiss-Prot
PharmGKB PA29694 PharmGKB
UniProt IGBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8TAB2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-17 IGBP1  immunoglobulin binding protein 1  IGBP1  immunoglobulin (CD79A) binding protein 1  Symbol and/or name change 5135510 APPROVED