SPA17 (sperm autoantigenic protein 17) - Rat Genome Database

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Gene: SPA17 (sperm autoantigenic protein 17) Homo sapiens
Analyze
Symbol: SPA17
Name: sperm autoantigenic protein 17
RGD ID: 1353517
HGNC Page HGNC
Description: Predicted to enable calmodulin binding activity. Predicted to be involved in single fertilization and spermatogenesis. Located in cytoplasm; sperm fibrous sheath; and sperm principal piece. Biomarker of Merkel cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cancer/testis antigen 22; CT22; SP17; SP17-1; sperm protein 17; sperm surface protein Sp17
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SPA17P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11124,673,844 - 124,697,518 (+)EnsemblGRCh38hg38GRCh38
GRCh3811124,673,904 - 124,697,518 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711124,543,800 - 124,567,414 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,048,950 - 124,069,900 (+)NCBINCBI36hg18NCBI36
Build 3411124,048,949 - 124,069,895NCBI
Celera11121,703,917 - 121,724,867 (+)NCBI
Cytogenetic Map11q24.2NCBI
HuRef11120,486,154 - 120,507,105 (+)NCBIHuRef
CHM1_111124,429,875 - 124,450,825 (+)NCBICHM1_1
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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7525387   PMID:7578682   PMID:8688458   PMID:9378618   PMID:10591629   PMID:11415432   PMID:12213290   PMID:12393185   PMID:12477932   PMID:12530914   PMID:12739786   PMID:14566839  
PMID:14712480   PMID:15257753   PMID:15381930   PMID:15489334   PMID:16344560   PMID:17230514   PMID:17551920   PMID:18421703   PMID:18779750   PMID:19604394   PMID:19685492   PMID:20712874  
PMID:21873635   PMID:23137323   PMID:23923079   PMID:24103781   PMID:25416956   PMID:25600306   PMID:25739119   PMID:25910212   PMID:26186194   PMID:26300426   PMID:28514442   PMID:30309325  
PMID:31336797   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
SPA17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11124,673,844 - 124,697,518 (+)EnsemblGRCh38hg38GRCh38
GRCh3811124,673,904 - 124,697,518 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711124,543,800 - 124,567,414 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,048,950 - 124,069,900 (+)NCBINCBI36hg18NCBI36
Build 3411124,048,949 - 124,069,895NCBI
Celera11121,703,917 - 121,724,867 (+)NCBI
Cytogenetic Map11q24.2NCBI
HuRef11120,486,154 - 120,507,105 (+)NCBIHuRef
CHM1_111124,429,875 - 124,450,825 (+)NCBICHM1_1
Spa17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39937,514,590 - 37,525,196 (-)NCBIGRCm39mm39
GRCm39 Ensembl937,514,586 - 37,525,018 (-)Ensembl
GRCm38937,603,294 - 37,613,916 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl937,603,290 - 37,613,722 (-)EnsemblGRCm38mm10GRCm38
MGSCv37937,410,883 - 37,421,207 (-)NCBIGRCm37mm9NCBIm37
MGSCv36937,352,969 - 37,363,285 (-)NCBImm8
Celera934,820,392 - 34,830,716 (-)NCBICelera
Cytogenetic Map9A4NCBI
Spa17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2837,307,432 - 37,318,645 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl837,307,557 - 37,318,639 (-)Ensembl
Rnor_6.0840,066,954 - 40,078,131 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl840,067,076 - 40,078,165 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0840,067,778 - 40,078,956 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4838,843,007 - 38,852,080 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1838,851,772 - 38,860,846 (-)NCBI
Celera837,138,678 - 37,147,723 (+)NCBICelera
Cytogenetic Map8q21NCBI
Spa17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541225,741,228 - 25,753,903 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541225,741,369 - 25,753,681 (+)NCBIChiLan1.0ChiLan1.0
SPA17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111123,416,864 - 123,437,823 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11123,416,725 - 123,437,818 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011119,501,604 - 119,526,103 (+)NCBIMhudiblu_PPA_v0panPan3
SPA17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.159,719,222 - 9,731,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl59,719,241 - 9,730,913 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha59,764,084 - 9,776,377 (-)NCBI
ROS_Cfam_1.059,658,863 - 9,671,169 (-)NCBI
UMICH_Zoey_3.159,731,014 - 9,743,307 (-)NCBI
UNSW_CanFamBas_1.059,701,457 - 9,713,751 (-)NCBI
UU_Cfam_GSD_1.059,737,971 - 9,750,271 (-)NCBI
Spa17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947106,894,523 - 106,916,177 (+)NCBI
SPA17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl951,918,916 - 51,931,455 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1951,918,916 - 51,931,459 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2957,436,391 - 57,448,928 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPA17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366604310,268,491 - 10,296,790 (-)NCBIVero_WHO_p1.0
Spa17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624927678,390 - 691,963 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH104125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,565,033 - 124,565,201UniSTSGRCh37
Build 3611124,070,243 - 124,070,411RGDNCBI36
Celera11121,725,210 - 121,725,378RGD
HuRef11120,507,448 - 120,507,616UniSTS
GeneMap99-GB4 RH Map11413.52UniSTS
031XG1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,548,348 - 124,548,473UniSTSGRCh37
Build 3611124,053,558 - 124,053,683RGDNCBI36
Celera11121,708,525 - 121,708,650RGD
Cytogenetic Map11q24.2UniSTS
HuRef11120,490,762 - 120,490,887UniSTS
Whitehead-RH Map11571.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1689
Count of miRNA genes:877
Interacting mature miRNAs:1014
Transcripts:ENST00000227135, ENST00000524614, ENST00000529498, ENST00000532692
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 29 35 5 9 5 7 13 43 29 468 129 2
Low 2156 1528 1369 318 914 190 2887 901 3126 373 849 1476 142 1 919 1676 6 1
Below cutoff 254 1454 321 300 1018 269 1452 1270 565 17 143 6 30 285 1102 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000227135   ⟹   ENSP00000227135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,673,904 - 124,697,518 (+)Ensembl
RefSeq Acc Id: ENST00000524614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,675,314 - 124,696,686 (+)Ensembl
RefSeq Acc Id: ENST00000529498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,673,910 - 124,675,875 (+)Ensembl
RefSeq Acc Id: ENST00000532692   ⟹   ENSP00000432305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,673,844 - 124,697,518 (+)Ensembl
RefSeq Acc Id: NM_017425   ⟹   NP_059121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,673,904 - 124,697,518 (+)NCBI
GRCh3711124,543,740 - 124,564,690 (+)ENTREZGENE
Build 3611124,048,950 - 124,069,900 (+)NCBI Archive
HuRef11120,486,154 - 120,507,105 (+)ENTREZGENE
CHM1_111124,429,875 - 124,450,825 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542870   ⟹   XP_011541172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,674,195 - 124,694,793 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448583   ⟹   XP_024304351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,673,940 - 124,694,793 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_059121   ⟸   NM_017425
- UniProtKB: Q15506 (UniProtKB/Swiss-Prot),   A0A172Q397 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541172   ⟸   XM_011542870
- Peptide Label: isoform X1
- UniProtKB: Q15506 (UniProtKB/Swiss-Prot),   A0A172Q397 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304351   ⟸   XM_024448583
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000227135   ⟸   ENST00000227135
RefSeq Acc Id: ENSP00000432305   ⟸   ENST00000532692
Protein Domains
IQ   RIIa

Promoters
RGD ID:6789396
Promoter ID:HG_KWN:14488
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:UC001QAP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611124,048,719 - 124,049,219 (+)MPROMDB
RGD ID:7222495
Promoter ID:EPDNEW_H16993
Type:initiation region
Name:SPA17_1
Description:sperm autoantigenic protein 17
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
GRCh3811124,673,916 - 124,673,976EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 copy number loss See cases [RCV000134405] Chr11:120426093..124771213 [GRCh38]
Chr11:120296802..124641109 [GRCh37]
Chr11:119802012..124146319 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1 copy number loss See cases [RCV000138074] Chr11:124565941..125095785 [GRCh38]
Chr11:124435837..124965681 [GRCh37]
Chr11:123941047..124470891 [NCBI36]
Chr11:11q24.2
uncertain significance
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3 copy number gain See cases [RCV000141175] Chr11:123543649..124802201 [GRCh38]
Chr11:123414357..124672097 [GRCh37]
Chr11:122919567..124177307 [NCBI36]
Chr11:11q24.1-24.2
uncertain significance
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1 copy number loss See cases [RCV000448684] Chr11:124254553..125315622 [GRCh37]
Chr11:11q24.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2(chr11:124296334-124560100)x3 copy number gain not provided [RCV000683322] Chr11:124296334..124560100 [GRCh37]
Chr11:11q24.2
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25
pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11210 AgrOrtholog
COSMIC SPA17 COSMIC
Ensembl Genes ENSG00000064199 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000227135 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432305 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000227135 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532692 UniProtKB/Swiss-Prot
GTEx ENSG00000064199 GTEx
HGNC ID HGNC:11210 ENTREZGENE
Human Proteome Map SPA17 Human Proteome Map
InterPro cAMP_dep_PK_reg_su_I/II_a/b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sp17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:53340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 53340 ENTREZGENE
OMIM 608621 OMIM
Pfam PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIIa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36047 PharmGKB
PIRSF Sp17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RIIa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A172Q397 ENTREZGENE, UniProtKB/TrEMBL
  Q05D07_HUMAN UniProtKB/TrEMBL
  Q15506 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R4F2 UniProtKB/Swiss-Prot
  Q9BXF7 UniProtKB/Swiss-Prot