AMBP (alpha-1-microglobulin/bikunin precursor) - Rat Genome Database

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Gene: AMBP (alpha-1-microglobulin/bikunin precursor) Homo sapiens
Analyze
Symbol: AMBP
Name: alpha-1-microglobulin/bikunin precursor
RGD ID: 735479
HGNC Page HGNC
Description: Exhibits IgA binding activity; heme binding activity; and protein homodimerization activity. Predicted to be involved in negative regulation of JNK cascade and receptor-mediated endocytosis. Localizes to plasma membrane. Implicated in acute kidney failure and adult respiratory distress syndrome. Biomarker of asthma; calcium oxalate nephrolithiasis; kidney failure; and pyelonephritis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A1M; alpha 1 microglobulin/bikunin; alpha-1-microglobulin/bikunin; bikunin; complex-forming glycoprotein heterogeneous in charge; EDC1; growth-inhibiting protein 19; HCP; HI30; IATIL; inter-alpha-trypsin inhibitor light chain; ITI; ITIL; ITILC; protein HC; trypstatin; uristatin; uronic-acid-rich protein; UTI
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 Ensembl9114,060,127 - 114,078,328 (-)EnsemblGRCh38hg38GRCh38
GRCh389114,060,127 - 114,078,300 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379116,822,407 - 116,840,580 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,862,228 - 115,880,536 (-)NCBINCBI36hg18NCBI36
Build 349113,901,963 - 113,920,269NCBI
Celera987,469,703 - 87,488,044 (-)NCBI
Cytogenetic Map9q32NCBI
HuRef986,428,731 - 86,447,071 (-)NCBIHuRef
CHM1_19116,968,857 - 116,987,201 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
8-anilinonaphthalene-1-sulfonic acid  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsenous acid  (EXP)
benazepril  (EXP)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
cisplatin  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
entinostat  (EXP)
ferroheme b  (EXP)
furan  (ISO)
graphite  (ISO)
heme b  (EXP)
histamine  (ISO)
ibuprofen  (EXP)
leukotriene C4  (ISO)
losartan  (EXP)
mercury dibromide  (EXP)
metformin  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
reactive oxygen species  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
XL147  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:72071   PMID:1385302   PMID:1694784   PMID:1696200   PMID:1697852   PMID:1700638   PMID:1708673   PMID:1714898   PMID:1898736   PMID:2408638   PMID:2413856   PMID:2419908  
PMID:2428011   PMID:2430261   PMID:2465147   PMID:2472935   PMID:2482577   PMID:3663330   PMID:3890890   PMID:6164372   PMID:6171497   PMID:6196366   PMID:6198962   PMID:7506257  
PMID:7513643   PMID:7519849   PMID:7528952   PMID:7533162   PMID:7535251   PMID:7682553   PMID:9183005   PMID:9472382   PMID:9566199   PMID:9570066   PMID:9671439   PMID:10097787  
PMID:10447938   PMID:10631976   PMID:10727951   PMID:10878892   PMID:11036097   PMID:11058759   PMID:11807786   PMID:11877257   PMID:11883904   PMID:12477932   PMID:12817471   PMID:14516400  
PMID:14597629   PMID:14718574   PMID:15037615   PMID:15452109   PMID:15489334   PMID:15498571   PMID:15653696   PMID:16140784   PMID:16364318   PMID:16407257   PMID:16502470   PMID:16712791  
PMID:16916777   PMID:17087727   PMID:17115277   PMID:17146627   PMID:17207965   PMID:17320766   PMID:17584166   PMID:17633530   PMID:17766242   PMID:17998887   PMID:18226914   PMID:18448433  
PMID:18624398   PMID:18649735   PMID:19056867   PMID:19636634   PMID:19879940   PMID:19913121   PMID:19914646   PMID:20602574   PMID:20628086   PMID:20954860   PMID:21067798   PMID:21332340  
PMID:21873635   PMID:21988832   PMID:22096585   PMID:22516433   PMID:22595828   PMID:22684072   PMID:23324582   PMID:23376485   PMID:23414180   PMID:23533145   PMID:23642167   PMID:23801333  
PMID:23841057   PMID:23919851   PMID:24012674   PMID:24135868   PMID:24211404   PMID:24698819   PMID:24980765   PMID:25037231   PMID:25370597   PMID:25416956   PMID:25555815   PMID:25561734  
PMID:26202000   PMID:26208400   PMID:26497278   PMID:26681130   PMID:26728454   PMID:27155336   PMID:27559042   PMID:28675934   PMID:30272341   PMID:31189914   PMID:31233368   PMID:31240132  
PMID:31281843   PMID:31952546   PMID:32915914   PMID:33008134  


Genomics

Comparative Map Data
AMBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9114,060,127 - 114,078,328 (-)EnsemblGRCh38hg38GRCh38
GRCh389114,060,127 - 114,078,300 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379116,822,407 - 116,840,580 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,862,228 - 115,880,536 (-)NCBINCBI36hg18NCBI36
Build 349113,901,963 - 113,920,269NCBI
Celera987,469,703 - 87,488,044 (-)NCBI
Cytogenetic Map9q32NCBI
HuRef986,428,731 - 86,447,071 (-)NCBIHuRef
CHM1_19116,968,857 - 116,987,201 (-)NCBICHM1_1
Ambp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39463,061,512 - 63,072,409 (-)NCBIGRCm39mm39
GRCm39 Ensembl463,061,512 - 63,073,036 (-)Ensembl
GRCm38463,143,275 - 63,154,172 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl463,143,275 - 63,154,799 (-)EnsemblGRCm38mm10GRCm38
MGSCv37462,804,313 - 62,815,176 (-)NCBIGRCm37mm9NCBIm37
MGSCv36462,629,640 - 62,640,503 (-)NCBImm8
Celera461,799,977 - 61,810,839 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map433.96NCBI
Ambp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2576,568,094 - 76,578,416 (-)NCBI
Rnor_6.0 Ensembl578,975,678 - 78,985,990 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0578,975,690 - 78,986,021 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0583,093,799 - 83,104,019 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4580,119,742 - 80,129,962 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1580,124,854 - 80,135,075 (-)NCBI
Celera575,505,542 - 75,515,762 (-)NCBICelera
Cytogenetic Map5q24NCBI
Ambp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541913,478,552 - 13,492,327 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541913,478,904 - 13,492,329 (+)NCBIChiLan1.0ChiLan1.0
AMBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19113,525,136 - 113,543,680 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9113,525,835 - 113,543,422 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0985,157,680 - 85,176,253 (-)NCBIMhudiblu_PPA_v0panPan3
AMBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11168,338,644 - 68,353,366 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1168,338,389 - 68,351,994 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1166,741,500 - 66,756,216 (-)NCBI
ROS_Cfam_1.01169,461,851 - 69,476,622 (-)NCBI
UMICH_Zoey_3.11167,978,768 - 67,993,416 (-)NCBI
UNSW_CanFamBas_1.01168,009,752 - 68,024,455 (-)NCBI
UU_Cfam_GSD_1.01168,747,753 - 68,762,492 (-)NCBI
LOC101976131
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947183,631,164 - 183,643,649 (-)NCBI
SpeTri2.0NW_0049364873,399,792 - 3,412,088 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1254,683,885 - 254,703,225 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11254,683,885 - 254,703,220 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21285,710,963 - 285,725,500 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1qNCBI
LOC103218974
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11225,508,516 - 25,526,821 (+)NCBI
ChlSab1.1 Ensembl1225,508,682 - 25,527,016 (+)Ensembl
Ambp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476021,047,576 - 21,064,698 (+)NCBI

Position Markers
STS-M88249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,822,141 - 116,822,373UniSTSGRCh37
Build 369115,861,962 - 115,862,194RGDNCBI36
Celera987,469,437 - 87,469,669RGD
Cytogenetic Map9q32-q33UniSTS
HuRef986,428,465 - 86,428,697UniSTS
GeneMap99-GB4 RH Map9357.94UniSTS
AMBP  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,823,247 - 116,823,730UniSTSGRCh37
Build 369115,863,068 - 115,863,551RGDNCBI36
Celera987,470,543 - 87,471,026RGD
HuRef986,429,571 - 86,430,054UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1188
Count of miRNA genes:606
Interacting mature miRNAs:704
Transcripts:ENST00000265132, ENST00000466610, ENST00000540645, ENST00000603230
Prediction methods:Miranda, 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 adipose tissue appendage
High 412 412 1 412 1 2
Medium 13 55 35 33 50 35 10 1 3 66 23 24 8 4
Low 740 515 663 28 548 10 607 170 528 262 772 891 19 130 260
Below cutoff 1281 1884 552 135 789 5 2965 1257 2754 61 584 575 137 876 1933

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY544123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB141734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS208015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB867200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265132   ⟹   ENSP00000265132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9114,060,127 - 114,078,300 (-)Ensembl
RefSeq Acc Id: ENST00000466610   ⟹   ENSP00000475149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9114,060,992 - 114,074,969 (-)Ensembl
RefSeq Acc Id: ENST00000540645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9114,060,910 - 114,077,608 (-)Ensembl
RefSeq Acc Id: ENST00000603230   ⟹   ENSP00000474859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9114,061,500 - 114,078,328 (-)Ensembl
RefSeq Acc Id: NM_001633   ⟹   NP_001624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,060,127 - 114,078,300 (-)NCBI
GRCh379116,822,407 - 116,840,752 (-)ENTREZGENE
Build 369115,862,228 - 115,880,536 (-)NCBI Archive
HuRef986,428,731 - 86,447,071 (-)ENTREZGENE
CHM1_19116,968,857 - 116,987,201 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001624   ⟸   NM_001633
- Peptide Label: preproprotein
- UniProtKB: P02760 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000475149   ⟸   ENST00000466610
RefSeq Acc Id: ENSP00000474859   ⟸   ENST00000603230
RefSeq Acc Id: ENSP00000265132   ⟸   ENST00000265132
Promoters
RGD ID:7215943
Promoter ID:EPDNEW_H13718
Type:initiation region
Name:AMBP_1
Description:alpha-1-microglobulin/bikunin precursor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13719  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,078,300 - 114,078,360EPDNEW
RGD ID:7215947
Promoter ID:EPDNEW_H13719
Type:initiation region
Name:AMBP_2
Description:alpha-1-microglobulin/bikunin precursor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13718  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,078,454 - 114,078,514EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001633.3(AMBP):c.876C>T (p.Val292=) single nucleotide variant Malignant melanoma [RCV000068500] Chr9:114061076 [GRCh38]
Chr9:116823356 [GRCh37]
Chr9:115863177 [NCBI36]
Chr9:9q32
not provided
NM_001633.3(AMBP):c.605G>A (p.Arg202Lys) single nucleotide variant Malignant melanoma [RCV000068501] Chr9:114062757 [GRCh38]
Chr9:116825037 [GRCh37]
Chr9:115864858 [NCBI36]
Chr9:9q32
not provided
NM_001633.3(AMBP):c.954G>A (p.Gly318=) single nucleotide variant Malignant melanoma [RCV000061864] Chr9:114060998 [GRCh38]
Chr9:116823278 [GRCh37]
Chr9:115863099 [NCBI36]
Chr9:9q32
not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q32(chr9:116822389-116859863)x3 copy number gain See cases [RCV000446224] Chr9:116822389..116859863 [GRCh37]
Chr9:9q32
benign
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3
pathogenic
GRCh37/hg19 9q32(chr9:116813039-116867054)x3 copy number gain not provided [RCV000748631] Chr9:116813039..116867054 [GRCh37]
Chr9:9q32
benign
GRCh37/hg19 9q32(chr9:116816780-116870232)x3 copy number gain not provided [RCV000748632] Chr9:116816780..116870232 [GRCh37]
Chr9:9q32
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q32(chr9:116754414-116840509)x1 copy number loss not provided [RCV001006256] Chr9:116754414..116840509 [GRCh37]
Chr9:9q32
uncertain significance
NM_001633.4(AMBP):c.556+6T>C single nucleotide variant not provided [RCV000885913] Chr9:114072919 [GRCh38]
Chr9:116835199 [GRCh37]
Chr9:9q32
benign
GRCh37/hg19 9q32(chr9:116642144-117613527)x1 copy number loss not provided [RCV001006255] Chr9:116642144..117613527 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:453 AgrOrtholog
COSMIC AMBP COSMIC
Ensembl Genes ENSG00000106927 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265132 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000474859 UniProtKB/TrEMBL
  ENSP00000475149 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265132 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000466610 UniProtKB/TrEMBL
  ENST00000603230 UniProtKB/TrEMBL
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106927 GTEx
HGNC ID HGNC:453 ENTREZGENE
Human Proteome Map AMBP Human Proteome Map
InterPro A1-microglobln UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calycin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prtase_inh_Kunz-CS UniProtKB/Swiss-Prot
KEGG Report hsa:259 UniProtKB/Swiss-Prot
NCBI Gene 259 ENTREZGENE
OMIM 176870 OMIM
PANTHER PTHR46676 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24759 PharmGKB
PRINTS A1MCGLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BASICPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BPTI_KUNITZ_1 UniProtKB/Swiss-Prot
  BPTI_KUNITZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOCALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AMBP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  S4R3Y4_HUMAN UniProtKB/TrEMBL
  S4R471_HUMAN UniProtKB/TrEMBL
UniProt Secondary P00977 UniProtKB/Swiss-Prot
  P02759 UniProtKB/Swiss-Prot
  P78491 UniProtKB/Swiss-Prot
  Q2TU33 UniProtKB/Swiss-Prot
  Q5TBD7 UniProtKB/Swiss-Prot
  Q9UC58 UniProtKB/Swiss-Prot
  Q9UDI8 UniProtKB/Swiss-Prot