USHBP1 (USH1 protein network component harmonin binding protein 1) - Rat Genome Database

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Gene: USHBP1 (USH1 protein network component harmonin binding protein 1) Homo sapiens
Analyze
Symbol: USHBP1
Name: USH1 protein network component harmonin binding protein 1
RGD ID: 1322004
HGNC Page HGNC:24058
Description: Enables PDZ domain binding activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway. Predicted to be located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AIE-75 binding protein protein; AIE-75-binding protein; AIEBP; FLJ38709; FLJ90681; harmonin-binding protein USHBP1; MCC-2; MCC2; mutated in colon cancer protein 2; USH1C-binding protein 1; Usher syndrome 1C binding protein 1; Usher syndrome type-1C protein-binding protein 1
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
GRCh381917,249,171 - 17,264,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1917,249,171 - 17,282,786 (-)EnsemblGRCh38hg38GRCh38
GRCh371917,359,980 - 17,375,554 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,221,849 - 17,236,544 (-)NCBINCBI36Build 36hg18NCBI36
Build 341917,221,848 - 17,236,544NCBI
Celera1917,262,392 - 17,277,301 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1916,927,891 - 16,942,605 (-)NCBIHuRef
CHM1_11917,360,331 - 17,375,018 (-)NCBICHM1_1
T2T-CHM13v2.01917,384,049 - 17,399,626 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:11311560   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16713569   PMID:19060904   PMID:19447967   PMID:21516116   PMID:21988832   PMID:24722188   PMID:25416956  
PMID:25910212   PMID:26871637   PMID:27107014   PMID:29117863   PMID:30232004   PMID:32296183   PMID:36543142   PMID:36949045  


Genomics

Comparative Map Data
USHBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381917,249,171 - 17,264,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1917,249,171 - 17,282,786 (-)EnsemblGRCh38hg38GRCh38
GRCh371917,359,980 - 17,375,554 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,221,849 - 17,236,544 (-)NCBINCBI36Build 36hg18NCBI36
Build 341917,221,848 - 17,236,544NCBI
Celera1917,262,392 - 17,277,301 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1916,927,891 - 16,942,605 (-)NCBIHuRef
CHM1_11917,360,331 - 17,375,018 (-)NCBICHM1_1
T2T-CHM13v2.01917,384,049 - 17,399,626 (-)NCBIT2T-CHM13v2.0
Ushbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39871,836,918 - 71,848,480 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl871,836,916 - 71,848,446 (-)EnsemblGRCm39 Ensembl
GRCm38871,384,274 - 71,395,834 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl871,384,272 - 71,395,802 (-)EnsemblGRCm38mm10GRCm38
MGSCv37873,908,173 - 73,919,700 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36874,314,358 - 74,324,774 (-)NCBIMGSCv36mm8
Celera873,908,945 - 73,920,510 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.43NCBI
Ushbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81618,091,311 - 18,101,927 (-)NCBIGRCr8
mRatBN7.21618,057,321 - 18,067,933 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1618,057,326 - 18,067,877 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1618,108,949 - 18,119,545 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01619,241,512 - 19,252,096 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01618,161,870 - 18,172,466 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01619,781,276 - 19,791,832 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1619,781,279 - 19,791,832 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01619,641,397 - 19,651,953 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41618,546,489 - 18,557,045 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11618,546,486 - 18,555,536 (-)NCBI
Celera1618,262,900 - 18,273,456 (-)NCBICelera
Cytogenetic Map16p14NCBI
Ushbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955524946,561 - 957,029 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955524945,044 - 954,424 (+)NCBIChiLan1.0ChiLan1.0
USHBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22022,119,365 - 22,135,998 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11921,125,938 - 21,142,572 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01916,737,813 - 16,752,891 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11917,711,987 - 17,726,576 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1917,711,987 - 17,726,524 (-)Ensemblpanpan1.1panPan2
USHBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12045,477,070 - 45,486,552 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2045,477,592 - 45,486,510 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2045,390,394 - 45,399,904 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02045,963,233 - 45,972,744 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2045,962,145 - 45,972,731 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12045,199,878 - 45,209,379 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02045,609,695 - 45,619,255 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02045,885,552 - 45,895,064 (+)NCBIUU_Cfam_GSD_1.0
Ushbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118204,035,715 - 204,044,346 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365963,584,879 - 3,593,496 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365963,584,890 - 3,593,481 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USHBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl260,411,629 - 60,422,554 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1260,411,629 - 60,422,577 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
USHBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1615,758,962 - 15,772,737 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl615,758,777 - 15,772,471 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660743,669,606 - 3,683,305 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ushbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624908662,451 - 670,191 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624908661,663 - 670,226 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USHBP1
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1 copy number loss See cases [RCV000143571] Chr19:17246895..17730147 [GRCh38]
Chr19:17357704..17840956 [GRCh37]
Chr19:17218704..17701956 [NCBI36]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3 copy number gain See cases [RCV000240162] Chr19:17001280..17536087 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1 copy number loss not provided [RCV000487468] Chr19:15970389..17893528 [GRCh37]
Chr19:19p13.12-13.11		 pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1 copy number loss See cases [RCV000511230] Chr19:15921132..17479860 [GRCh37]
Chr19:19p13.12-13.11		 likely pathogenic
GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1 copy number loss See cases [RCV000511154] Chr19:17325373..17840956 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.697C>T (p.His233Tyr) single nucleotide variant Inborn genetic diseases [RCV003257223] Chr19:17259968 [GRCh38]
Chr19:17370777 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_031941.4(USHBP1):c.2083C>A (p.Pro695Thr) single nucleotide variant Inborn genetic diseases [RCV003277127] Chr19:17250254 [GRCh38]
Chr19:17361063 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_031941.4(USHBP1):c.2057T>A (p.Leu686Gln) single nucleotide variant Inborn genetic diseases [RCV003280917] Chr19:17250280 [GRCh38]
Chr19:17361089 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.614G>A (p.Arg205Gln) single nucleotide variant Inborn genetic diseases [RCV003252893] Chr19:17262580 [GRCh38]
Chr19:17373389 [GRCh37]
Chr19:19p13.11		 likely benign
Single allele duplication not provided [RCV000678022] Chr19:17001280..17536087 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_031941.4(USHBP1):c.1609G>A (p.Glu537Lys) single nucleotide variant Inborn genetic diseases [RCV003268298] Chr19:17255468 [GRCh38]
Chr19:17366277 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1 copy number loss not provided [RCV000848728] Chr19:16875725..17477318 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NC_000019.9:g.(?_14847048)_(17394124_?)del deletion not provided [RCV003116664] Chr19:14847048..17394124 [GRCh37]
Chr19:19p13.12-13.11		 uncertain significance
NM_031941.4(USHBP1):c.1923C>T (p.Ser641=) single nucleotide variant Inborn genetic diseases [RCV003283716] Chr19:17250414 [GRCh38]
Chr19:17361223 [GRCh37]
Chr19:19p13.11		 likely benign
NM_031941.4(USHBP1):c.222T>A (p.Asp74Glu) single nucleotide variant Inborn genetic diseases [RCV002837120] Chr19:17262972 [GRCh38]
Chr19:17373781 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.223G>A (p.Gly75Arg) single nucleotide variant Inborn genetic diseases [RCV002990948] Chr19:17262971 [GRCh38]
Chr19:17373780 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.635A>G (p.Gln212Arg) single nucleotide variant Inborn genetic diseases [RCV002689802] Chr19:17262559 [GRCh38]
Chr19:17373368 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1507G>A (p.Val503Met) single nucleotide variant Inborn genetic diseases [RCV002883566] Chr19:17255570 [GRCh38]
Chr19:17366379 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.2038G>A (p.Glu680Lys) single nucleotide variant Inborn genetic diseases [RCV002906533] Chr19:17250299 [GRCh38]
Chr19:17361108 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.499G>C (p.Gly167Arg) single nucleotide variant Inborn genetic diseases [RCV002947006] Chr19:17262695 [GRCh38]
Chr19:17373504 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.368A>T (p.Gln123Leu) single nucleotide variant Inborn genetic diseases [RCV002761889] Chr19:17262826 [GRCh38]
Chr19:17373635 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1553G>A (p.Arg518Gln) single nucleotide variant Inborn genetic diseases [RCV002738968] Chr19:17255524 [GRCh38]
Chr19:17366333 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.799C>T (p.Arg267Trp) single nucleotide variant Inborn genetic diseases [RCV002712804] Chr19:17259702 [GRCh38]
Chr19:17370511 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.551G>A (p.Arg184Gln) single nucleotide variant Inborn genetic diseases [RCV002698074] Chr19:17262643 [GRCh38]
Chr19:17373452 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1604G>C (p.Arg535Pro) single nucleotide variant Inborn genetic diseases [RCV002788382] Chr19:17255473 [GRCh38]
Chr19:17366282 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1772C>T (p.Ala591Val) single nucleotide variant Inborn genetic diseases [RCV002929979] Chr19:17251938 [GRCh38]
Chr19:17362747 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.568C>G (p.Arg190Gly) single nucleotide variant Inborn genetic diseases [RCV002930185] Chr19:17262626 [GRCh38]
Chr19:17373435 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.502A>T (p.Ser168Cys) single nucleotide variant Inborn genetic diseases [RCV002697771] Chr19:17262692 [GRCh38]
Chr19:17373501 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.128C>T (p.Ala43Val) single nucleotide variant Inborn genetic diseases [RCV003003866] Chr19:17264077 [GRCh38]
Chr19:17374886 [GRCh37]
Chr19:19p13.11		 likely benign
NM_031941.4(USHBP1):c.1087C>T (p.Arg363Trp) single nucleotide variant Inborn genetic diseases [RCV002956718] Chr19:17258345 [GRCh38]
Chr19:17369154 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.218T>C (p.Met73Thr) single nucleotide variant Inborn genetic diseases [RCV002936821] Chr19:17262976 [GRCh38]
Chr19:17373785 [GRCh37]
Chr19:19p13.11		 likely benign
NM_031941.4(USHBP1):c.1909T>C (p.Cys637Arg) single nucleotide variant Inborn genetic diseases [RCV002964709] Chr19:17251595 [GRCh38]
Chr19:17362404 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1961A>G (p.Gln654Arg) single nucleotide variant Inborn genetic diseases [RCV002769367] Chr19:17250376 [GRCh38]
Chr19:17361185 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1661G>A (p.Gly554Asp) single nucleotide variant Inborn genetic diseases [RCV002854785] Chr19:17255416 [GRCh38]
Chr19:17366225 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.305C>A (p.Ala102Asp) single nucleotide variant Inborn genetic diseases [RCV002717957] Chr19:17262889 [GRCh38]
Chr19:17373698 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.49C>G (p.Pro17Ala) single nucleotide variant Inborn genetic diseases [RCV002668732] Chr19:17264251 [GRCh38]
Chr19:17375060 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.137C>T (p.Pro46Leu) single nucleotide variant Inborn genetic diseases [RCV002675121] Chr19:17264068 [GRCh38]
Chr19:17374877 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1375G>A (p.Glu459Lys) single nucleotide variant Inborn genetic diseases [RCV002657325] Chr19:17256566 [GRCh38]
Chr19:17367375 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.2093T>C (p.Leu698Pro) single nucleotide variant Inborn genetic diseases [RCV002677224] Chr19:17250244 [GRCh38]
Chr19:17361053 [GRCh37]
Chr19:19p13.11		 likely benign
NM_031941.4(USHBP1):c.574G>C (p.Asp192His) single nucleotide variant Inborn genetic diseases [RCV003196353] Chr19:17262620 [GRCh38]
Chr19:17373429 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1513C>T (p.Arg505Cys) single nucleotide variant Inborn genetic diseases [RCV003179192] Chr19:17255564 [GRCh38]
Chr19:17366373 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.13G>A (p.Ala5Thr) single nucleotide variant Inborn genetic diseases [RCV003195744] Chr19:17264287 [GRCh38]
Chr19:17375096 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.2081C>T (p.Pro694Leu) single nucleotide variant Inborn genetic diseases [RCV003174469] Chr19:17250256 [GRCh38]
Chr19:17361065 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1333C>G (p.Pro445Ala) single nucleotide variant Inborn genetic diseases [RCV003307309] Chr19:17256608 [GRCh38]
Chr19:17367417 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.1042T>C (p.Tyr348His) single nucleotide variant Inborn genetic diseases [RCV003263374] Chr19:17259293 [GRCh38]
Chr19:17370102 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.841C>T (p.Leu281Phe) single nucleotide variant Inborn genetic diseases [RCV003341065] Chr19:17259660 [GRCh38]
Chr19:17370469 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.2057T>C (p.Leu686Pro) single nucleotide variant Inborn genetic diseases [RCV003342280] Chr19:17250280 [GRCh38]
Chr19:17361089 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_031941.4(USHBP1):c.971G>T (p.Arg324Leu) single nucleotide variant Inborn genetic diseases [RCV003378284] Chr19:17259364 [GRCh38]
Chr19:17370173 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3 copy number gain not provided [RCV003485195] Chr19:14888106..17360864 [GRCh37]
Chr19:19p13.12-13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3 copy number gain not specified [RCV003986116] Chr19:16857649..17423590 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3 copy number gain not specified [RCV003986122] Chr19:13970692..18139376 [GRCh37]
Chr19:19p13.13-13.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5181
Count of miRNA genes:1152
Interacting mature miRNAs:1470
Transcripts:ENST00000252597, ENST00000324554, ENST00000431146, ENST00000594190, ENST00000595993, ENST00000596436, ENST00000597928, ENST00000598309, ENST00000598570, ENST00000600286
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.

Markers in Region
RH103144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,362,400 - 17,362,518UniSTSGRCh37
Build 361917,223,400 - 17,223,518RGDNCBI36
Celera1917,263,942 - 17,264,060RGD
Cytogenetic Map19p13UniSTS
HuRef1916,929,441 - 16,929,559UniSTS
GeneMap99-GB4 RH Map1996.42UniSTS
STS-Z40754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,360,969 - 17,361,029UniSTSGRCh37
Build 361917,221,969 - 17,222,029RGDNCBI36
Celera1917,262,512 - 17,262,572RGD
Cytogenetic Map19p13UniSTS
HuRef1916,928,011 - 16,928,071UniSTS
GeneMap99-GB4 RH Map1977.1UniSTS
NCBI RH Map19102.3UniSTS
STS-AA018792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,360,971 - 17,361,191UniSTSGRCh37
Build 361917,221,971 - 17,222,191RGDNCBI36
Celera1917,262,514 - 17,262,734RGD
Cytogenetic Map19p13UniSTS
HuRef1916,928,013 - 16,928,233UniSTS
GeneMap99-GB4 RH Map1999.26UniSTS
NCBI RH Map19103.7UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
GDB:315881  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q12UniSTS


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 119 93 337 1 84 1 757 110 174 26 154 723 854 199 1
Low 2224 2086 1294 541 676 379 3493 2042 3399 351 1221 780 167 1 350 2543 3 1
Below cutoff 85 792 93 81 1137 85 103 42 150 38 82 104 6 46 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001297703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA551913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB026290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA589997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252597   ⟹   ENSP00000252597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,249,171 - 17,264,745 (-)Ensembl
RefSeq Acc Id: ENST00000324554   ⟹   ENSP00000324174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,250,159 - 17,264,728 (-)Ensembl
RefSeq Acc Id: ENST00000431146   ⟹   ENSP00000407902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,250,154 - 17,264,724 (-)Ensembl
RefSeq Acc Id: ENST00000594190   ⟹   ENSP00000473108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,262,829 - 17,264,724 (-)Ensembl
RefSeq Acc Id: ENST00000595993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,262,784 - 17,264,753 (-)Ensembl
RefSeq Acc Id: ENST00000596436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,263,833 - 17,264,737 (-)Ensembl
RefSeq Acc Id: ENST00000597928   ⟹   ENSP00000469562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,250,158 - 17,264,714 (-)Ensembl
RefSeq Acc Id: ENST00000598309   ⟹   ENSP00000471680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,264,107 - 17,282,786 (-)Ensembl
RefSeq Acc Id: ENST00000598570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,262,584 - 17,264,749 (-)Ensembl
RefSeq Acc Id: ENST00000600286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1917,263,840 - 17,264,745 (-)Ensembl
RefSeq Acc Id: NM_001297703   ⟹   NP_001284632
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,249,171 - 17,264,745 (-)NCBI
CHM1_11917,360,312 - 17,375,079 (-)NCBI
T2T-CHM13v2.01917,384,049 - 17,399,626 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321417   ⟹   NP_001308346
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,249,171 - 17,264,745 (-)NCBI
CHM1_11917,360,312 - 17,375,079 (-)NCBI
T2T-CHM13v2.01917,384,049 - 17,399,626 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031941   ⟹   NP_114147
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,249,171 - 17,264,745 (-)NCBI
GRCh371917,360,537 - 17,375,605 (-)NCBI
Build 361917,221,849 - 17,236,544 (-)NCBI Archive
Celera1917,262,392 - 17,277,301 (-)RGD
HuRef1916,927,891 - 16,942,605 (-)RGD
CHM1_11917,360,331 - 17,375,018 (-)NCBI
T2T-CHM13v2.01917,384,049 - 17,399,626 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135632
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,249,171 - 17,264,745 (-)NCBI
CHM1_11917,360,312 - 17,375,079 (-)NCBI
T2T-CHM13v2.01917,384,049 - 17,399,626 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528351   ⟹   XP_011526653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,258,306 - 17,264,745 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054322301   ⟹   XP_054178276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01917,393,182 - 17,399,626 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_114147   ⟸   NM_031941
- Peptide Label: isoform 1
- UniProtKB: Q96KH3 (UniProtKB/Swiss-Prot),   Q8NBX7 (UniProtKB/Swiss-Prot),   B2RCR9 (UniProtKB/Swiss-Prot),   A8K7L6 (UniProtKB/Swiss-Prot),   Q9BYI8 (UniProtKB/Swiss-Prot),   Q8N6Y0 (UniProtKB/Swiss-Prot),   B4DUE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284632   ⟸   NM_001297703
- Peptide Label: isoform 2
- UniProtKB: B4DUE8 (UniProtKB/TrEMBL),   G8JLM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526653   ⟸   XM_011528351
- Peptide Label: isoform X1
- UniProtKB: Q8N8Y1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308346   ⟸   NM_001321417
- Peptide Label: isoform 1
- UniProtKB: Q96KH3 (UniProtKB/Swiss-Prot),   Q8NBX7 (UniProtKB/Swiss-Prot),   B2RCR9 (UniProtKB/Swiss-Prot),   A8K7L6 (UniProtKB/Swiss-Prot),   Q9BYI8 (UniProtKB/Swiss-Prot),   Q8N6Y0 (UniProtKB/Swiss-Prot),   B4DUE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000252597   ⟸   ENST00000252597
RefSeq Acc Id: ENSP00000469562   ⟸   ENST00000597928
RefSeq Acc Id: ENSP00000471680   ⟸   ENST00000598309
RefSeq Acc Id: ENSP00000324174   ⟸   ENST00000324554
RefSeq Acc Id: ENSP00000407902   ⟸   ENST00000431146
RefSeq Acc Id: ENSP00000473108   ⟸   ENST00000594190
RefSeq Acc Id: XP_054178276   ⟸   XM_054322301
- Peptide Label: isoform X1
- UniProtKB: Q8N8Y1 (UniProtKB/TrEMBL)
Protein Domains
Harmonin-binding protein USHBP1 PDZ-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N6Y0-F1-model_v2 AlphaFold Q8N6Y0 1-703 view protein structure

Promoters
RGD ID:7239009
Promoter ID:EPDNEW_H25250
Type:initiation region
Name:USHBP1_1
Description:USH1 protein network component harmonin binding 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
GRCh381917,264,745 - 17,264,805EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24058 AgrOrtholog
COSMIC USHBP1 COSMIC
Ensembl Genes ENSG00000130307 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252597 ENTREZGENE
  ENST00000252597.8 UniProtKB/Swiss-Prot
  ENST00000324554 ENTREZGENE
  ENST00000324554.9 UniProtKB/TrEMBL
  ENST00000431146 ENTREZGENE
  ENST00000431146.6 UniProtKB/TrEMBL
  ENST00000594190.5 UniProtKB/TrEMBL
  ENST00000597928.5 UniProtKB/Swiss-Prot
  ENST00000598309.1 UniProtKB/TrEMBL
GTEx ENSG00000130307 GTEx
HGNC ID HGNC:24058 ENTREZGENE
Human Proteome Map USHBP1 Human Proteome Map
InterPro USBP1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USH1C-bd_PDZ_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83878 UniProtKB/Swiss-Prot
NCBI Gene 83878 ENTREZGENE
OMIM 611810 OMIM
PANTHER PTHR23347 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USHER SYNDROME TYPE-1C PROTEIN-BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MCC-bdg_PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134909077 PharmGKB
UniProt A8K7L6 ENTREZGENE
  B2RCR9 ENTREZGENE
  B4DUE8 ENTREZGENE, UniProtKB/TrEMBL
  G8JLM4 ENTREZGENE, UniProtKB/TrEMBL
  M0R172_HUMAN UniProtKB/TrEMBL
  M0R3B1_HUMAN UniProtKB/TrEMBL
  Q8N6Y0 ENTREZGENE
  Q8N8Y1 ENTREZGENE, UniProtKB/TrEMBL
  Q8NBX7 ENTREZGENE
  Q96KH3 ENTREZGENE
  Q9BYI8 ENTREZGENE
  USBP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K7L6 UniProtKB/Swiss-Prot
  B2RCR9 UniProtKB/Swiss-Prot
  Q8NBX7 UniProtKB/Swiss-Prot
  Q96KH3 UniProtKB/Swiss-Prot
  Q9BYI8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 USHBP1  USH1 protein network component harmonin binding protein 1    Usher syndrome 1C binding protein 1  Symbol and/or name change 5135510 APPROVED