CLUAP1 (clusterin associated protein 1) - Rat Genome Database

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Gene: CLUAP1 (clusterin associated protein 1) Homo sapiens
Analyze
Symbol: CLUAP1
Name: clusterin associated protein 1
RGD ID: 1354421
HGNC Page HGNC
Description: Predicted to be involved in cilium assembly. Predicted to act upstream of or within several processes, including axoneme assembly; embryonic morphogenesis; and left/right pattern formation. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CFAP22; cilia and flagella associated protein 22; clusterin-associated protein 1; FAP22; flagellar associated protein 22, qilin-like protein, homolog; FLJ13297; IFT38; KIAA0643; qilin
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 Ensembl163,500,976 - 3,539,048 (+)EnsemblGRCh38hg38GRCh38
GRCh38163,500,978 - 3,539,048 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37163,551,004 - 3,589,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,490,964 - 3,527,670 (+)NCBINCBI36hg18NCBI36
Build 34163,499,894 - 3,527,670NCBI
Celera163,757,743 - 3,794,429 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef163,520,603 - 3,558,683 (+)NCBIHuRef
CHM1_1163,551,027 - 3,589,092 (+)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:8889549   PMID:9734811   PMID:12477932   PMID:14702039   PMID:15480429   PMID:15489334   PMID:16189514   PMID:16344560   PMID:17203229   PMID:19253336   PMID:19322201   PMID:21832049  
PMID:21873635   PMID:22658674   PMID:25416956   PMID:26186194   PMID:26389662   PMID:26638075   PMID:26820066   PMID:27173435   PMID:28514442   PMID:28679688   PMID:28927264   PMID:29615496  
PMID:30285347   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
CLUAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl163,500,976 - 3,539,048 (+)EnsemblGRCh38hg38GRCh38
GRCh38163,500,978 - 3,539,048 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37163,551,004 - 3,589,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,490,964 - 3,527,670 (+)NCBINCBI36hg18NCBI36
Build 34163,499,894 - 3,527,670NCBI
Celera163,757,743 - 3,794,429 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef163,520,603 - 3,558,683 (+)NCBIHuRef
CHM1_1163,551,027 - 3,589,092 (+)NCBICHM1_1
Cluap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39163,725,058 - 3,760,163 (+)NCBIGRCm39mm39
GRCm39 Ensembl163,726,665 - 3,759,011 (+)Ensembl
GRCm38163,907,194 - 3,942,299 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl163,908,801 - 3,941,147 (+)EnsemblGRCm38mm10GRCm38
MGSCv37163,909,009 - 3,941,147 (+)NCBIGRCm37mm9NCBIm37
MGSCv36163,824,237 - 3,856,375 (+)NCBImm8
Celera164,539,502 - 4,571,888 (+)NCBICelera
Cytogenetic Map16A1NCBI
Cluap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21011,587,963 - 11,619,711 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1011,588,017 - 11,619,711 (-)Ensembl
Rnor_6.01011,847,058 - 11,878,792 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1011,847,102 - 11,878,792 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01010,601,973 - 10,635,054 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41011,855,568 - 11,887,257 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11011,855,568 - 11,887,257 (-)NCBI
Celera1010,544,766 - 10,576,325 (-)NCBICelera
Cytogenetic Map10q12NCBI
Cluap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544213,842,784 - 13,885,860 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544213,843,952 - 13,890,082 (-)NCBIChiLan1.0ChiLan1.0
CLUAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1163,600,370 - 3,637,622 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl163,600,370 - 3,637,622 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0162,423,563 - 2,461,486 (+)NCBIMhudiblu_PPA_v0panPan3
CLUAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1637,708,258 - 37,746,361 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl637,708,089 - 37,746,398 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha639,036,799 - 39,075,099 (-)NCBI
ROS_Cfam_1.0637,923,070 - 37,961,524 (-)NCBI
UMICH_Zoey_3.1637,706,194 - 37,744,496 (-)NCBI
UNSW_CanFamBas_1.0637,599,500 - 37,637,821 (-)NCBI
UU_Cfam_GSD_1.0638,010,068 - 38,048,339 (-)NCBI
Cluap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344105,899,050 - 105,939,837 (+)NCBI
SpeTri2.0NW_004936694779,399 - 810,534 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLUAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl338,716,403 - 38,753,748 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1338,716,562 - 38,753,743 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2339,989,049 - 40,023,350 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLUAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.153,196,257 - 3,236,912 (+)NCBI
Vero_WHO_p1.0NW_02366606827,581,557 - 27,620,335 (-)NCBI
Cluap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248241,299,426 - 1,352,019 (+)NCBI

Position Markers
SHGC-61133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37163,588,923 - 3,589,025UniSTSGRCh37
Build 36163,528,924 - 3,529,026RGDNCBI36
Celera163,795,683 - 3,795,785RGD
Cytogenetic Map16p13.3UniSTS
HuRef163,558,559 - 3,558,661UniSTS
GeneMap99-GB4 RH Map1657.45UniSTS
SHGC-60726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371946,573,606 - 46,573,733UniSTSGRCh37
GRCh37163,586,679 - 3,586,806UniSTSGRCh37
Build 36163,526,680 - 3,526,807RGDNCBI36
Celera163,793,439 - 3,793,566RGD
Celera1943,378,611 - 43,378,738UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef1943,001,519 - 43,001,646UniSTS
HuRef163,556,315 - 3,556,442UniSTS
GeneMap99-GB4 RH Map1663.97UniSTS
Whitehead-RH Map1624.1UniSTS
L17809  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map9q34.13UniSTS
L17877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map9q21.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map17q25.3UniSTS
D11S3430  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9p11.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map8q24.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5358
Count of miRNA genes:1330
Interacting mature miRNAs:1751
Transcripts:ENST00000341633, ENST00000417763, ENST00000445795, ENST00000571025, ENST00000572600, ENST00000572632, ENST00000573370, ENST00000574369, ENST00000574551, ENST00000574592, ENST00000575134, ENST00000575323, ENST00000576117, ENST00000576634
Prediction methods:Microtar, 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 entire extraembryonic component
High
Medium 631 443 547 16 24 6 733 364 1200 117 897 509 13 16 703
Low 1801 2251 1172 602 1660 454 3622 1796 2508 298 551 1099 157 1188 2085 4
Below cutoff 290 4 4 264 4 33 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB089691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ446386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA502615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T49451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341633   ⟹   ENSP00000344392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,501,012 - 3,536,559 (+)Ensembl
RefSeq Acc Id: ENST00000571025   ⟹   ENSP00000460706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,501,018 - 3,536,825 (+)Ensembl
RefSeq Acc Id: ENST00000572600   ⟹   ENSP00000460889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,509,894 - 3,537,669 (+)Ensembl
RefSeq Acc Id: ENST00000572632   ⟹   ENSP00000458180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,519,969 - 3,536,470 (+)Ensembl
RefSeq Acc Id: ENST00000573370   ⟹   ENSP00000460977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,500,976 - 3,515,551 (+)Ensembl
RefSeq Acc Id: ENST00000574369   ⟹   ENSP00000458886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,500,981 - 3,523,229 (+)Ensembl
RefSeq Acc Id: ENST00000574551   ⟹   ENSP00000458513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,515,376 - 3,530,590 (+)Ensembl
RefSeq Acc Id: ENST00000574592   ⟹   ENSP00000459602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,500,982 - 3,523,196 (+)Ensembl
RefSeq Acc Id: ENST00000575134   ⟹   ENSP00000459399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,501,007 - 3,530,609 (+)Ensembl
RefSeq Acc Id: ENST00000575323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,530,462 - 3,533,111 (+)Ensembl
RefSeq Acc Id: ENST00000576117   ⟹   ENSP00000461063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,502,044 - 3,508,464 (+)Ensembl
RefSeq Acc Id: ENST00000576634   ⟹   ENSP00000460850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,501,004 - 3,539,048 (+)Ensembl
RefSeq Acc Id: NM_001330454   ⟹   NP_001317383
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,501,004 - 3,539,048 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015041   ⟹   NP_055856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,501,004 - 3,539,048 (+)NCBI
GRCh37163,550,945 - 3,589,048 (+)NCBI
Build 36163,490,964 - 3,526,586 (+)NCBI Archive
Celera163,757,743 - 3,794,429 (+)RGD
HuRef163,520,603 - 3,558,683 (+)NCBI
CHM1_1163,551,027 - 3,589,092 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024793   ⟹   NP_079069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,509,894 - 3,539,048 (+)NCBI
GRCh37163,550,945 - 3,589,048 (+)NCBI
Build 36163,499,895 - 3,527,670 (+)NCBI Archive
Celera163,757,743 - 3,794,429 (+)RGD
HuRef163,520,603 - 3,558,683 (+)NCBI
CHM1_1163,559,976 - 3,589,092 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720867   ⟹   XP_006720930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,500,982 - 3,536,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023073   ⟹   XP_016878562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,500,982 - 3,537,138 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751874
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,500,978 - 3,537,138 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957794
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,506,386 - 3,537,138 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055856   ⟸   NM_015041
- Peptide Label: isoform 1
- UniProtKB: Q96AJ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_079069   ⟸   NM_024793
- Peptide Label: isoform 2
- UniProtKB: Q96AJ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006720930   ⟸   XM_006720867
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016878562   ⟸   XM_017023073
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001317383   ⟸   NM_001330454
- Peptide Label: isoform 3
- UniProtKB: J3KNW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000460706   ⟸   ENST00000571025
RefSeq Acc Id: ENSP00000458180   ⟸   ENST00000572632
RefSeq Acc Id: ENSP00000460889   ⟸   ENST00000572600
RefSeq Acc Id: ENSP00000460977   ⟸   ENST00000573370
RefSeq Acc Id: ENSP00000459602   ⟸   ENST00000574592
RefSeq Acc Id: ENSP00000458513   ⟸   ENST00000574551
RefSeq Acc Id: ENSP00000458886   ⟸   ENST00000574369
RefSeq Acc Id: ENSP00000459399   ⟸   ENST00000575134
RefSeq Acc Id: ENSP00000461063   ⟸   ENST00000576117
RefSeq Acc Id: ENSP00000460850   ⟸   ENST00000576634
RefSeq Acc Id: ENSP00000344392   ⟸   ENST00000341633

Promoters
RGD ID:6792932
Promoter ID:HG_KWN:22897
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002CVJ.1,   UC002CVK.1,   UC002CVL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36163,490,091 - 3,491,132 (+)MPROMDB
RGD ID:7231159
Promoter ID:EPDNEW_H21325
Type:initiation region
Name:CLUAP1_1
Description:clusterin associated protein 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
GRCh38163,501,004 - 3,501,064EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 copy number gain See cases [RCV000052395] Chr16:2717952..4041020 [GRCh38]
Chr16:2767953..4091021 [GRCh37]
Chr16:2707954..4031022 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3 copy number gain See cases [RCV000052396] Chr16:3493167..3993345 [GRCh38]
Chr16:3543167..4043346 [GRCh37]
Chr16:3483168..3983347 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3
pathogenic
NM_015041.3(CLUAP1):c.579+8G>A single nucleotide variant not provided [RCV001494604] Chr16:3515599 [GRCh38]
Chr16:3565599 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.855G>A (p.Glu285=) single nucleotide variant not provided [RCV001349211] Chr16:3523299 [GRCh38]
Chr16:3573299 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3 copy number gain See cases [RCV000138346] Chr16:3303551..3965374 [GRCh38]
Chr16:3353551..4015375 [GRCh37]
Chr16:3293552..3955376 [NCBI36]
Chr16:16p13.3
likely pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3 copy number gain See cases [RCV000139806] Chr16:3061267..3666094 [GRCh38]
Chr16:3111268..3716095 [GRCh37]
Chr16:3051269..3656096 [NCBI36]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3 copy number gain See cases [RCV000140839] Chr16:3515534..3749385 [GRCh38]
Chr16:3565534..3799386 [GRCh37]
Chr16:3505535..3739387 [NCBI36]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) single nucleotide variant Leber congenital amaurosis [RCV000210897]|Toriello-Lacassie-Droste syndrome [RCV000210001] Chr16:3523261 [GRCh38]
Chr16:3573261 [GRCh37]
Chr16:16p13.3
pathogenic|uncertain significance
GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3 copy number gain See cases [RCV000240036] Chr16:3104050..3722491 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3 copy number gain See cases [RCV000240318] Chr16:2867891..3942436 [GRCh37]
Chr16:16p13.3
pathogenic
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter) single nucleotide variant Joubert syndrome [RCV000496978] Chr16:3520011 [GRCh38]
Chr16:3570011 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) single nucleotide variant Joubert syndrome [RCV000496983] Chr16:3508407 [GRCh38]
Chr16:3558407 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_015041.3(CLUAP1):c.195C>T (p.Phe65=) single nucleotide variant not provided [RCV001394450] Chr16:3506391 [GRCh38]
Chr16:3556391 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:3586972-4099566)x3 copy number gain See cases [RCV000446299] Chr16:3586972..4099566 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 copy number gain See cases [RCV000511502] Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 copy number gain not provided [RCV000683747] Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3 copy number gain not provided [RCV000683748] Chr16:3265427..3731182 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3519135-3651271)x1 copy number loss not provided [RCV000683749] Chr16:3519135..3651271 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_015041.3(CLUAP1):c.683G>A (p.Arg228Gln) single nucleotide variant not provided [RCV001052999] Chr16:3520006 [GRCh38]
Chr16:3570006 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.89C>G (p.Pro30Arg) single nucleotide variant not provided [RCV001059717] Chr16:3504786 [GRCh38]
Chr16:3554786 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.919A>C (p.Lys307Gln) single nucleotide variant not provided [RCV000883831] Chr16:3526475 [GRCh38]
Chr16:3576475 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.1084G>A (p.Asp362Asn) single nucleotide variant not provided [RCV001046458] Chr16:3532833 [GRCh38]
Chr16:3582833 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3
pathogenic
NM_015041.3(CLUAP1):c.103G>C (p.Val35Leu) single nucleotide variant not provided [RCV001054128] Chr16:3504800 [GRCh38]
Chr16:3554800 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1232A>G (p.Asn411Ser) single nucleotide variant not provided [RCV001054260] Chr16:3536261 [GRCh38]
Chr16:3586261 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3469027-4328143)x3 copy number gain not provided [RCV000849459] Chr16:3469027..4328143 [GRCh37]
Chr16:16p13.3
pathogenic
NM_015041.3(CLUAP1):c.579G>C (p.Leu193Phe) single nucleotide variant not provided [RCV001213826] Chr16:3515591 [GRCh38]
Chr16:3565591 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.652G>A (p.Glu218Lys) single nucleotide variant not provided [RCV001230996] Chr16:3519975 [GRCh38]
Chr16:3569975 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.980A>G (p.Glu327Gly) single nucleotide variant not provided [RCV001248451] Chr16:3530619 [GRCh38]
Chr16:3580619 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3 copy number gain not provided [RCV000849936] Chr16:3112024..3738078 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.514A>G (p.Ile172Val) single nucleotide variant not provided [RCV001202964] Chr16:3515526 [GRCh38]
Chr16:3565526 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1015G>A (p.Ala339Thr) single nucleotide variant not provided [RCV001223065] Chr16:3530654 [GRCh38]
Chr16:3580654 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.311T>A (p.Leu104His) single nucleotide variant not provided [RCV001237447] Chr16:3508380 [GRCh38]
Chr16:3558380 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1094A>G (p.Glu365Gly) single nucleotide variant not provided [RCV001227209] Chr16:3536123 [GRCh38]
Chr16:3586123 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.14_22+16del deletion not provided [RCV001238215] Chr16:3501076..3501100 [GRCh38]
Chr16:3551076..3551100 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.14A>G (p.Asp5Gly) single nucleotide variant not provided [RCV001225942] Chr16:3501081 [GRCh38]
Chr16:3551081 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.83G>A (p.Arg28His) single nucleotide variant not provided [RCV001201557] Chr16:3504780 [GRCh38]
Chr16:3554780 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1013C>T (p.Thr338Ile) single nucleotide variant not provided [RCV001203406] Chr16:3530652 [GRCh38]
Chr16:3580652 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.973G>A (p.Asp325Asn) single nucleotide variant not provided [RCV001245417] Chr16:3530612 [GRCh38]
Chr16:3580612 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.305C>T (p.Ser102Phe) single nucleotide variant not provided [RCV001240533] Chr16:3508374 [GRCh38]
Chr16:3558374 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.22+5G>A single nucleotide variant not provided [RCV001245642] Chr16:3501094 [GRCh38]
Chr16:3551094 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.134+1G>T single nucleotide variant not provided [RCV001240650] Chr16:3504832 [GRCh38]
Chr16:3554832 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.82C>T (p.Arg28Cys) single nucleotide variant not provided [RCV001209365] Chr16:3504779 [GRCh38]
Chr16:3554779 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1169C>A (p.Ser390Tyr) single nucleotide variant not provided [RCV001229368] Chr16:3536198 [GRCh38]
Chr16:3586198 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.134+5G>A single nucleotide variant not provided [RCV001065193] Chr16:3504836 [GRCh38]
Chr16:3554836 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.470T>G (p.Leu157Trp) single nucleotide variant not provided [RCV001241700] Chr16:3512453 [GRCh38]
Chr16:3562453 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.202G>T (p.Ala68Ser) single nucleotide variant not provided [RCV000957366] Chr16:3506398 [GRCh38]
Chr16:3556398 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.400-3C>T single nucleotide variant not provided [RCV000889765] Chr16:3512380 [GRCh38]
Chr16:3562380 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.1190A>G (p.Asn397Ser) single nucleotide variant not provided [RCV001207468] Chr16:3536219 [GRCh38]
Chr16:3586219 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.571G>C (p.Glu191Gln) single nucleotide variant not provided [RCV001235787] Chr16:3515583 [GRCh38]
Chr16:3565583 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.205A>T (p.Ile69Phe) single nucleotide variant not provided [RCV001048730] Chr16:3506401 [GRCh38]
Chr16:3556401 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.855+5G>A single nucleotide variant not provided [RCV001230178] Chr16:3523304 [GRCh38]
Chr16:3573304 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.811C>A (p.Gln271Lys) single nucleotide variant not provided [RCV001202167] Chr16:3523255 [GRCh38]
Chr16:3573255 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.773C>T (p.Thr258Ile) single nucleotide variant not provided [RCV001237284] Chr16:3523217 [GRCh38]
Chr16:3573217 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.598A>G (p.Lys200Glu) single nucleotide variant not provided [RCV001236116] Chr16:3519921 [GRCh38]
Chr16:3569921 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1052G>A (p.Arg351His) single nucleotide variant not provided [RCV001234991] Chr16:3532801 [GRCh38]
Chr16:3582801 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1193G>A (p.Arg398Gln) single nucleotide variant not provided [RCV001045060] Chr16:3536222 [GRCh38]
Chr16:3586222 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.260dup (p.Tyr87Ter) duplication not provided [RCV001206825] Chr16:3508328..3508329 [GRCh38]
Chr16:3558328..3558329 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.656A>G (p.Lys219Arg) single nucleotide variant not provided [RCV001230820] Chr16:3519979 [GRCh38]
Chr16:3569979 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.353T>C (p.Ile118Thr) single nucleotide variant not provided [RCV001068393] Chr16:3508422 [GRCh38]
Chr16:3558422 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1183A>G (p.Lys395Glu) single nucleotide variant not provided [RCV001069514] Chr16:3536212 [GRCh38]
Chr16:3586212 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.371A>G (p.Asn124Ser) single nucleotide variant not provided [RCV001228538] Chr16:3508440 [GRCh38]
Chr16:3558440 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.391G>T (p.Gly131Cys) single nucleotide variant not provided [RCV001063926] Chr16:3508460 [GRCh38]
Chr16:3558460 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.134+4C>T single nucleotide variant not provided [RCV001040312] Chr16:3504835 [GRCh38]
Chr16:3554835 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.307_308delinsTC (p.Val103Ser) indel not provided [RCV001246022] Chr16:3508376..3508377 [GRCh38]
Chr16:3558376..3558377 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1091A>G (p.Asn364Ser) single nucleotide variant not provided [RCV001213675] Chr16:3532840 [GRCh38]
Chr16:3582840 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_015041.3(CLUAP1):c.34A>G (p.Met12Val) single nucleotide variant not provided [RCV001325391] Chr16:3504731 [GRCh38]
Chr16:3554731 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.479T>C (p.Met160Thr) single nucleotide variant not provided [RCV001342275] Chr16:3512462 [GRCh38]
Chr16:3562462 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.254A>G (p.Lys85Arg) single nucleotide variant not provided [RCV001348559] Chr16:3508323 [GRCh38]
Chr16:3558323 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.529G>A (p.Glu177Lys) single nucleotide variant not provided [RCV001309675] Chr16:3515541 [GRCh38]
Chr16:3565541 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.455C>A (p.Ala152Glu) single nucleotide variant not provided [RCV001296758] Chr16:3512438 [GRCh38]
Chr16:3562438 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.51A>G (p.Gly17=) single nucleotide variant not provided [RCV001351862] Chr16:3504748 [GRCh38]
Chr16:3554748 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.303A>G (p.Thr101=) single nucleotide variant not provided [RCV001326392] Chr16:3508372 [GRCh38]
Chr16:3558372 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.964G>A (p.Asp322Asn) single nucleotide variant not provided [RCV001313929] Chr16:3530603 [GRCh38]
Chr16:3580603 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.248C>T (p.Thr83Ile) single nucleotide variant not provided [RCV001352110] Chr16:3508317 [GRCh38]
Chr16:3558317 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.5C>G (p.Ser2Cys) single nucleotide variant not provided [RCV001373297] Chr16:3501072 [GRCh38]
Chr16:3551072 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1137C>T (p.Asp379=) single nucleotide variant not provided [RCV001433858] Chr16:3536166 [GRCh38]
Chr16:3586166 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.538G>A (p.Glu180Lys) single nucleotide variant not provided [RCV001361636] Chr16:3515550 [GRCh38]
Chr16:3565550 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_3543839)_(3551089_?)dup duplication not provided [RCV001316315] Chr16:3543839..3551089 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.297G>T (p.Lys99Asn) single nucleotide variant not provided [RCV001368525] Chr16:3508366 [GRCh38]
Chr16:3558366 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1010A>G (p.Gln337Arg) single nucleotide variant not provided [RCV001349424] Chr16:3530649 [GRCh38]
Chr16:3580649 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.31G>A (p.Glu11Lys) single nucleotide variant not provided [RCV001313016] Chr16:3504728 [GRCh38]
Chr16:3554728 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.400-1G>C single nucleotide variant not provided [RCV001371568] Chr16:3512382 [GRCh38]
Chr16:3562382 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.236T>G (p.Ile79Arg) single nucleotide variant not provided [RCV001349915] Chr16:3508305 [GRCh38]
Chr16:3558305 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1181C>T (p.Thr394Ile) single nucleotide variant not provided [RCV001362071] Chr16:3536210 [GRCh38]
Chr16:3586210 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.978T>G (p.Ser326Arg) single nucleotide variant not provided [RCV001346307] Chr16:3530617 [GRCh38]
Chr16:3580617 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.463T>C (p.Tyr155His) single nucleotide variant not provided [RCV001364065] Chr16:3512446 [GRCh38]
Chr16:3562446 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.165C>A (p.Asp55Glu) single nucleotide variant not provided [RCV001351901] Chr16:3506361 [GRCh38]
Chr16:3556361 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.937G>C (p.Asp313His) single nucleotide variant not provided [RCV001344794] Chr16:3530576 [GRCh38]
Chr16:3580576 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.670C>G (p.Leu224Val) single nucleotide variant not provided [RCV001344816] Chr16:3519993 [GRCh38]
Chr16:3569993 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1177C>G (p.Pro393Ala) single nucleotide variant not provided [RCV001297961] Chr16:3536206 [GRCh38]
Chr16:3586206 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_3573117_3580621del deletion not provided [RCV001352144]   uncertain significance
NM_015041.3(CLUAP1):c.143C>A (p.Pro48His) single nucleotide variant not provided [RCV001343952] Chr16:3506339 [GRCh38]
Chr16:3556339 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1158C>A (p.Asp386Glu) single nucleotide variant not provided [RCV001361372] Chr16:3536187 [GRCh38]
Chr16:3586187 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1100C>T (p.Ser367Leu) single nucleotide variant not provided [RCV001296359] Chr16:3536129 [GRCh38]
Chr16:3586129 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.910C>T (p.Arg304Cys) single nucleotide variant not provided [RCV001347453] Chr16:3526466 [GRCh38]
Chr16:3576466 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.221C>T (p.Ala74Val) single nucleotide variant not provided [RCV001319196] Chr16:3508290 [GRCh38]
Chr16:3558290 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.941C>T (p.Ser314Leu) single nucleotide variant not provided [RCV001344316] Chr16:3530580 [GRCh38]
Chr16:3580580 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.331A>G (p.Lys111Glu) single nucleotide variant not provided [RCV001319532] Chr16:3508400 [GRCh38]
Chr16:3558400 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1096G>T (p.Asp366Tyr) single nucleotide variant not provided [RCV001364343] Chr16:3536125 [GRCh38]
Chr16:3586125 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.995G>A (p.Arg332Gln) single nucleotide variant not provided [RCV001339543] Chr16:3530634 [GRCh38]
Chr16:3580634 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.356T>G (p.Val119Gly) single nucleotide variant not provided [RCV001306328] Chr16:3508425 [GRCh38]
Chr16:3558425 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_3576412)_(3586271_?)del deletion not provided [RCV001309331] Chr16:3576412..3586271 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.135-3T>C single nucleotide variant not provided [RCV001366675] Chr16:3506328 [GRCh38]
Chr16:3556328 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.963C>T (p.Asp321=) single nucleotide variant not provided [RCV001412646] Chr16:3530602 [GRCh38]
Chr16:3580602 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.1140_1148del (p.Glu380_Asp382del) deletion not provided [RCV001325777] Chr16:3536161..3536169 [GRCh38]
Chr16:3586161..3586169 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_015041.3(CLUAP1):c.1201C>T (p.Arg401Trp) single nucleotide variant not provided [RCV001522413] Chr16:3536230 [GRCh38]
Chr16:3586230 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.102T>C (p.Leu34=) single nucleotide variant not provided [RCV001516368] Chr16:3504799 [GRCh38]
Chr16:3554799 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.134+9G>T single nucleotide variant not provided [RCV001516369] Chr16:3504840 [GRCh38]
Chr16:3554840 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.220-6A>T single nucleotide variant not provided [RCV001516370] Chr16:3508283 [GRCh38]
Chr16:3558283 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.804T>C (p.Tyr268=) single nucleotide variant not provided [RCV001515026] Chr16:3523248 [GRCh38]
Chr16:3573248 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.1161G>A (p.Glu387=) single nucleotide variant not provided [RCV001439222] Chr16:3536190 [GRCh38]
Chr16:3586190 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.441C>T (p.Ile147=) single nucleotide variant not provided [RCV001439691] Chr16:3512424 [GRCh38]
Chr16:3562424 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.117T>C (p.Leu39=) single nucleotide variant not provided [RCV001491693] Chr16:3504814 [GRCh38]
Chr16:3554814 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.496-9G>C single nucleotide variant not provided [RCV001474835] Chr16:3515499 [GRCh38]
Chr16:3565499 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.1047C>A (p.Gly349=) single nucleotide variant not provided [RCV001419399] Chr16:3532796 [GRCh38]
Chr16:3582796 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.1047C>G (p.Gly349=) single nucleotide variant not provided [RCV001430718] Chr16:3532796 [GRCh38]
Chr16:3582796 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.117T>G (p.Leu39=) single nucleotide variant not provided [RCV001393368] Chr16:3504814 [GRCh38]
Chr16:3554814 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.1012A>C (p.Thr338Pro) single nucleotide variant not provided [RCV001423833] Chr16:3530651 [GRCh38]
Chr16:3580651 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.1092+8C>T single nucleotide variant not provided [RCV001400909] Chr16:3532849 [GRCh38]
Chr16:3582849 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.134+8C>T single nucleotide variant not provided [RCV001393557] Chr16:3504839 [GRCh38]
Chr16:3554839 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.969A>C (p.Glu323Asp) single nucleotide variant not provided [RCV001445332] Chr16:3530608 [GRCh38]
Chr16:3580608 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.1037-19A>G single nucleotide variant not provided [RCV001523766] Chr16:3532767 [GRCh38]
Chr16:3582767 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.929-3T>C single nucleotide variant not provided [RCV001519008] Chr16:3530565 [GRCh38]
Chr16:3580565 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.873C>T (p.Leu291=) single nucleotide variant not provided [RCV001463324] Chr16:3526429 [GRCh38]
Chr16:3576429 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.856-16A>T single nucleotide variant not provided [RCV001522891] Chr16:3526396 [GRCh38]
Chr16:3576396 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.1037-6T>C single nucleotide variant not provided [RCV001460702] Chr16:3532780 [GRCh38]
Chr16:3582780 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.399+8C>G single nucleotide variant not provided [RCV001456580] Chr16:3508476 [GRCh38]
Chr16:3558476 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.309C>G (p.Val103=) single nucleotide variant not provided [RCV001484399] Chr16:3508378 [GRCh38]
Chr16:3558378 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.474C>T (p.Leu158=) single nucleotide variant not provided [RCV001406229] Chr16:3512457 [GRCh38]
Chr16:3562457 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.586G>T (p.Val196Phe) single nucleotide variant not provided [RCV001510169] Chr16:3519909 [GRCh38]
Chr16:3569909 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.798G>C (p.Leu266=) single nucleotide variant not provided [RCV001429458] Chr16:3523242 [GRCh38]
Chr16:3573242 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.22+18C>G single nucleotide variant not provided [RCV001513279] Chr16:3501107 [GRCh38]
Chr16:3551107 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.312T>C (p.Leu104=) single nucleotide variant not provided [RCV001517250] Chr16:3508381 [GRCh38]
Chr16:3558381 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.320C>T (p.Ala107Val) single nucleotide variant not provided [RCV001517251] Chr16:3508389 [GRCh38]
Chr16:3558389 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.1065G>A (p.Thr355=) single nucleotide variant not provided [RCV001514595] Chr16:3532814 [GRCh38]
Chr16:3582814 [GRCh37]
Chr16:16p13.3
benign
NM_015041.3(CLUAP1):c.1005G>C (p.Lys335Asn) single nucleotide variant not provided [RCV001438101] Chr16:3530644 [GRCh38]
Chr16:3580644 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.1036+8G>A single nucleotide variant not provided [RCV001402369] Chr16:3530683 [GRCh38]
Chr16:3580683 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.954C>T (p.Ile318=) single nucleotide variant not provided [RCV001394018] Chr16:3530593 [GRCh38]
Chr16:3580593 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.363A>G (p.Glu121=) single nucleotide variant not provided [RCV001399092] Chr16:3508432 [GRCh38]
Chr16:3558432 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.855+20T>C single nucleotide variant not provided [RCV001484099] Chr16:3523319 [GRCh38]
Chr16:3573319 [GRCh37]
Chr16:16p13.3
likely benign
NM_015041.3(CLUAP1):c.15C>T (p.Asp5=) single nucleotide variant not provided [RCV001437844] Chr16:3501082 [GRCh38]
Chr16:3551082 [GRCh37]
Chr16:16p13.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19009 AgrOrtholog
COSMIC CLUAP1 COSMIC
Ensembl Genes ENSG00000103351 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344392 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000458180 UniProtKB/TrEMBL
  ENSP00000458513 UniProtKB/TrEMBL
  ENSP00000458886 UniProtKB/TrEMBL
  ENSP00000459399 UniProtKB/TrEMBL
  ENSP00000459602 UniProtKB/TrEMBL
  ENSP00000460706 UniProtKB/TrEMBL
  ENSP00000460850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000460889 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000460977 UniProtKB/TrEMBL
  ENSP00000461063 UniProtKB/TrEMBL
Ensembl Transcript ENST00000341633 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000571025 UniProtKB/TrEMBL
  ENST00000572600 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000572632 UniProtKB/TrEMBL
  ENST00000573370 UniProtKB/TrEMBL
  ENST00000574369 UniProtKB/TrEMBL
  ENST00000574551 UniProtKB/TrEMBL
  ENST00000574592 UniProtKB/TrEMBL
  ENST00000575134 UniProtKB/TrEMBL
  ENST00000576117 UniProtKB/TrEMBL
  ENST00000576634 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000103351 GTEx
HGNC ID HGNC:19009 ENTREZGENE
Human Proteome Map CLUAP1 Human Proteome Map
InterPro Clusterin-associated_protein-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23059 UniProtKB/Swiss-Prot
NCBI Gene 23059 ENTREZGENE
OMIM 616787 OMIM
PANTHER PTHR21547 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cluap1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394600 PharmGKB
UniProt CLUA1_HUMAN UniProtKB/Swiss-Prot
  I3L0L1_HUMAN UniProtKB/TrEMBL
  I3L121_HUMAN UniProtKB/TrEMBL
  I3L1J4_HUMAN UniProtKB/TrEMBL
  I3L257_HUMAN UniProtKB/TrEMBL
  I3L2E1_HUMAN UniProtKB/TrEMBL
  I3L3S9_HUMAN UniProtKB/TrEMBL
  I3L455_HUMAN UniProtKB/TrEMBL
  I3L487_HUMAN UniProtKB/TrEMBL
  J3KNW5 ENTREZGENE, UniProtKB/TrEMBL
  Q96AJ1 ENTREZGENE
UniProt Secondary O75138 UniProtKB/Swiss-Prot
  Q65ZA3 UniProtKB/Swiss-Prot
  Q9H8R4 UniProtKB/Swiss-Prot
  Q9H8T1 UniProtKB/Swiss-Prot