SPACA7 (sperm acrosome associated 7) - Rat Genome Database

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Gene: SPACA7 (sperm acrosome associated 7) Homo sapiens
Analyze
Symbol: SPACA7
Name: sperm acrosome associated 7
RGD ID: 1606982
HGNC Page HGNC:29575
Description: Predicted to act upstream of or within negative regulation of cell adhesion and single fertilization. Located in acrosomal vesicle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C13orf28; FLJ27356; putative uncharacterized protein C13orf28; sperm acrosome-associated protein 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813112,376,355 - 112,434,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13112,376,355 - 112,434,689 (+)EnsemblGRCh38hg38GRCh38
GRCh3713113,030,669 - 113,089,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,078,670 - 112,137,002 (+)NCBINCBI36Build 36hg18NCBI36
Celera1393,856,057 - 93,914,326 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1393,472,184 - 93,530,513 (+)NCBIHuRef
CHM1_113112,996,281 - 113,054,892 (+)NCBICHM1_1
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15057823   PMID:15489334   PMID:19490893   PMID:20379614   PMID:22495889   PMID:25277244   PMID:33660365  


Genomics

Comparative Map Data
SPACA7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813112,376,355 - 112,434,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13112,376,355 - 112,434,689 (+)EnsemblGRCh38hg38GRCh38
GRCh3713113,030,669 - 113,089,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,078,670 - 112,137,002 (+)NCBINCBI36Build 36hg18NCBI36
Celera1393,856,057 - 93,914,326 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1393,472,184 - 93,530,513 (+)NCBIHuRef
CHM1_113112,996,281 - 113,054,892 (+)NCBICHM1_1
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBIT2T-CHM13v2.0
Spaca7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39812,623,038 - 12,650,744 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl812,623,029 - 12,650,744 (+)EnsemblGRCm39 Ensembl
GRCm38812,573,036 - 12,600,739 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl812,573,029 - 12,600,744 (+)EnsemblGRCm38mm10GRCm38
MGSCv37812,573,049 - 12,600,738 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36812,573,026 - 12,600,715 (+)NCBIMGSCv36mm8
Celera812,741,376 - 12,768,613 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.73NCBI
Spaca7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81683,630,735 - 83,657,669 (-)NCBIGRCr8
mRatBN7.21676,928,611 - 76,955,547 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1676,928,581 - 76,955,543 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1682,209,132 - 82,236,068 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01685,661,724 - 85,688,666 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01680,911,875 - 80,938,824 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01682,261,120 - 82,288,091 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1682,262,673 - 82,288,022 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01681,745,898 - 81,772,901 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41681,787,243 - 81,812,661 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1674,732,673 - 74,759,646 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Spaca7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554041,050,098 - 1,077,184 (-)NCBIChiLan1.0ChiLan1.0
SPACA7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214113,867,309 - 113,925,787 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113112,552,729 - 112,611,179 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01393,505,639 - 93,564,287 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113112,593,729 - 112,651,826 (+)NCBIpanpan1.1PanPan1.1panPan2
SPACA7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12260,106,719 - 60,135,916 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2260,106,763 - 60,135,759 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2259,819,553 - 59,822,020 (+)NCBIDog10K_Boxer_Tasha
Spaca7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945193,933,197 - 193,949,770 (-)NCBIHiC_Itri_2
SPACA7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11177,367,299 - 77,378,342 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SPACA7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1390,454,316 - 90,482,525 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl390,455,290 - 90,482,383 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604647,373,539 - 47,400,921 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SPACA7
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111541166-113671678)x1 copy number loss See cases [RCV000051453] Chr13:111541166..113671678 [GRCh38]
Chr13:112193513..114325993 [GRCh37]
Chr13:110991514..113648401 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111439396-114327173)x3 copy number gain See cases [RCV000053798] Chr13:111439396..114327173 [GRCh38]
Chr13:112091743..115085141 [GRCh37]
Chr13:110889744..114110750 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q34(chr13:112292922-113636272)x3 copy number gain See cases [RCV000053800] Chr13:112292922..113636272 [GRCh38]
Chr13:112947236..114290587 [GRCh37]
Chr13:111995237..113338588 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
NM_145248.4(SPACA7):c.106G>A (p.Glu36Lys) single nucleotide variant Malignant melanoma [RCV000062641] Chr13:112393032 [GRCh38]
Chr13:113047346 [GRCh37]
Chr13:112095347 [NCBI36]
Chr13:13q34		 not provided
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111118651-114340331)x3 copy number gain See cases [RCV000137378] Chr13:111118651..114340331 [GRCh38]
Chr13:111770998..115085141 [GRCh37]
Chr13:110568999..114123908 [NCBI36]
Chr13:13q34		 likely pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q34(chr13:111355741-114340331)x1 copy number loss See cases [RCV000137957] Chr13:111355741..114340331 [GRCh38]
Chr13:112008088..115085141 [GRCh37]
Chr13:110806089..114123908 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q34(chr13:111200986-114340331)x1 copy number loss See cases [RCV000141232] Chr13:111200986..114340331 [GRCh38]
Chr13:111853333..115085141 [GRCh37]
Chr13:110651334..114123908 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q34(chr13:110857896-114342258)x1 copy number loss See cases [RCV000143102] Chr13:110857896..114342258 [GRCh38]
Chr13:111510243..115107733 [GRCh37]
Chr13:110308244..114125835 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34		 uncertain significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106941499-113674752)x3 copy number gain See cases [RCV000447024] Chr13:106941499..113674752 [GRCh37]
Chr13:13q33.2-34		 uncertain significance
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:111282121-115107733)x1 copy number loss See cases [RCV000447085] Chr13:111282121..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:111550457-115107733)x1 copy number loss See cases [RCV000445865] Chr13:111550457..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q34(chr13:112091743-115092510)x1 copy number loss See cases [RCV000448192] Chr13:112091743..115092510 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 copy number loss See cases [RCV000512069] Chr13:109151651..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:112530842-115107733)x1 copy number loss not provided [RCV000683558] Chr13:112530842..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1 copy number loss not provided [RCV000683563] Chr13:109771548..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1 copy number loss not provided [RCV000683567] Chr13:105389857..113467489 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q34(chr13:112698825-113034913)x3 copy number gain not provided [RCV000683518] Chr13:112698825..113034913 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3 copy number gain not provided [RCV000683565] Chr13:108567578..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q34(chr13:112968554-113105795)x3 copy number gain not provided [RCV000738387] Chr13:112968554..113105795 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:111152478-114527838)x1 copy number loss not provided [RCV000750904] Chr13:111152478..114527838 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q34(chr13:111217422-115103529)x1 copy number loss not provided [RCV000750906] Chr13:111217422..115103529 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q34(chr13:111568865-115107733)x1 copy number loss not provided [RCV000846886] Chr13:111568865..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34		 not provided
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 copy number gain not provided [RCV000848672] Chr13:109203109..115107733 [GRCh37]
Chr13:13q33.3-34		 uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34		 uncertain significance
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
GRCh37/hg19 13q34(chr13:112069981-115107733)x3 copy number gain not provided [RCV001259172] Chr13:112069981..115107733 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q34(chr13:110428062-115107733) copy number loss Neurodevelopmental delay [RCV002280627] Chr13:110428062..115107733 [GRCh37]
Chr13:13q34		 pathogenic
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34		 pathogenic
Single allele deletion Factor X deficiency [RCV001807695] Chr13:110801268..113803893 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NC_000013.11:g.109179481_114327244del deletion Factor X deficiency [RCV001818108] Chr13:109179481..114327244 [GRCh38]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733) copy number loss not specified [RCV002053084] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733) copy number loss not specified [RCV002053083] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104545892-115107733) copy number loss not specified [RCV002053082] Chr13:104545892..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733) copy number loss not specified [RCV002053077] Chr13:100258328..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_145248.5(SPACA7):c.236C>T (p.Pro79Leu) single nucleotide variant not specified [RCV004290717] Chr13:112398133 [GRCh38]
Chr13:113052447 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:112704120-113035378)x3 copy number gain not provided [RCV002473882] Chr13:112704120..113035378 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1 copy number loss not provided [RCV002474828] Chr13:97142120..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
NM_145248.5(SPACA7):c.67G>A (p.Glu23Lys) single nucleotide variant not specified [RCV004113042] Chr13:112376452 [GRCh38]
Chr13:113030766 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.85G>A (p.Val29Met) single nucleotide variant not specified [RCV004210701] Chr13:112376470 [GRCh38]
Chr13:113030784 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3 copy number gain not provided [RCV002475671] Chr13:99421603..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_145248.5(SPACA7):c.538A>C (p.Lys180Gln) single nucleotide variant not specified [RCV004146706] Chr13:112434499 [GRCh38]
Chr13:113088813 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.73C>T (p.Arg25Trp) single nucleotide variant not specified [RCV004162582] Chr13:112376458 [GRCh38]
Chr13:113030772 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.511G>A (p.Gly171Arg) single nucleotide variant not specified [RCV004195800] Chr13:112432509 [GRCh38]
Chr13:113086823 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.382C>A (p.Pro128Thr) single nucleotide variant not specified [RCV004212081] Chr13:112401101 [GRCh38]
Chr13:113055415 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.256G>A (p.Glu86Lys) single nucleotide variant not specified [RCV004210080] Chr13:112399080 [GRCh38]
Chr13:113053394 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.412T>C (p.Ser138Pro) single nucleotide variant not specified [RCV004272330] Chr13:112401131 [GRCh38]
Chr13:113055445 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.156A>T (p.Glu52Asp) single nucleotide variant not specified [RCV004248712] Chr13:112398053 [GRCh38]
Chr13:113052367 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1 copy number loss Chromosome 13q33-q34 deletion syndrome [RCV003327641] Chr13:106425676..114326445 [GRCh38]
Chr13:13q33.3-34		 pathogenic
NM_145248.5(SPACA7):c.22G>A (p.Gly8Arg) single nucleotide variant not specified [RCV004336439] Chr13:112376407 [GRCh38]
Chr13:113030721 [GRCh37]
Chr13:13q34		 uncertain significance
NM_145248.5(SPACA7):c.267A>C (p.Gln89His) single nucleotide variant not specified [RCV004362982] Chr13:112399091 [GRCh38]
Chr13:113053405 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
NM_145248.5(SPACA7):c.222A>C (p.Ser74=) single nucleotide variant not provided [RCV003411007] Chr13:112398119 [GRCh38]
Chr13:113052433 [GRCh37]
Chr13:13q34		 likely benign
GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1 copy number loss not specified [RCV003987016] Chr13:106591678..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1 copy number loss not specified [RCV003987029] Chr13:103149209..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1 copy number loss not specified [RCV003987036] Chr13:102421732..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1 copy number loss not specified [RCV003987019] Chr13:104389334..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1 copy number loss not specified [RCV003987020] Chr13:105761074..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3 copy number gain not specified [RCV003987031] Chr13:106430837..114763645 [GRCh37]
Chr13:13q33.2-34		 uncertain significance
GRCh37/hg19 13q34(chr13:112071769-115107733)x3 copy number gain not provided [RCV004442810] Chr13:112071769..115107733 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3 copy number gain not provided [RCV004577499] Chr13:99892724..115108414 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_145248.5(SPACA7):c.206T>C (p.Met69Thr) single nucleotide variant not specified [RCV004457833] Chr13:112398103 [GRCh38]
Chr13:113052417 [GRCh37]
Chr13:13q34		 likely benign
NM_145248.5(SPACA7):c.530T>G (p.Ile177Ser) single nucleotide variant not specified [RCV004457834] Chr13:112434491 [GRCh38]
Chr13:113088805 [GRCh37]
Chr13:13q34		 likely benign
GRCh37/hg19 13q34(chr13:110551161-115107733)x3 copy number gain not provided [RCV004819594] Chr13:110551161..115107733 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q34(chr13:112014531-115107733)x1 copy number loss not provided [RCV004819378] Chr13:112014531..115107733 [GRCh37]
Chr13:13q34		 pathogenic
NM_145248.5(SPACA7):c.344A>G (p.Asn115Ser) single nucleotide variant not specified [RCV004868526] Chr13:112399168 [GRCh38]
Chr13:113053482 [GRCh37]
Chr13:13q34		 likely benign
NM_145248.5(SPACA7):c.259A>C (p.Asn87His) single nucleotide variant not specified [RCV004868525] Chr13:112399083 [GRCh38]
Chr13:113053397 [GRCh37]
Chr13:13q34		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1139
Count of miRNA genes:505
Interacting mature miRNAs:557
Transcripts:ENST00000283550, ENST00000375699, ENST00000414180, ENST00000443541
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597600538GWAS1657398_Hglucose measurement QTL GWAS1657398 (human)0.00001glucose measurementblood glucose level (CMO:0000046)13112416437112416438Human

Markers in Region
D13S1187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,046,435 - 113,046,564UniSTSGRCh37
Build 3613112,094,436 - 112,094,565RGDNCBI36
Celera1393,871,853 - 93,871,982RGD
Cytogenetic Map13q34UniSTS
HuRef1393,487,942 - 93,488,071UniSTS
Whitehead-RH Map13306.0UniSTS
NCBI RH Map131041.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
186 394 470 383 637 535 670 1 295 180 270 355 1314 962 3 467 231 676 329 29

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_145248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI219896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000283550   ⟹   ENSP00000283550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13112,376,355 - 112,434,689 (+)Ensembl
Ensembl Acc Id: ENST00000375699   ⟹   ENSP00000364851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13112,382,278 - 112,434,689 (+)Ensembl
Ensembl Acc Id: ENST00000414180   ⟹   ENSP00000416096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13112,376,355 - 112,399,173 (+)Ensembl
Ensembl Acc Id: ENST00000443541   ⟹   ENSP00000406733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13112,376,388 - 112,401,096 (+)Ensembl
RefSeq Acc Id: NM_145248   ⟹   NP_660291
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
GRCh3713113,030,649 - 113,089,009 (+)NCBI
Build 3613112,078,670 - 112,137,002 (+)NCBI Archive
Celera1393,856,057 - 93,914,326 (+)RGD
HuRef1393,472,184 - 93,530,513 (+)RGD
CHM1_113112,996,281 - 113,054,892 (+)NCBI
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537466   ⟹   XP_011535768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537467   ⟹   XP_011535769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537468   ⟹   XP_011535770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537471   ⟹   XP_011535773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537472   ⟹   XP_011535774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020391   ⟹   XP_016875880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020392   ⟹   XP_016875881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449318   ⟹   XP_024305086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813112,376,355 - 112,434,689 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054374106   ⟹   XP_054230081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
RefSeq Acc Id: XM_054374107   ⟹   XP_054230082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
RefSeq Acc Id: XM_054374108   ⟹   XP_054230083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
RefSeq Acc Id: XM_054374109   ⟹   XP_054230084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
RefSeq Acc Id: XM_054374110   ⟹   XP_054230085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
RefSeq Acc Id: XM_054374111   ⟹   XP_054230086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
RefSeq Acc Id: XM_054374112   ⟹   XP_054230087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
RefSeq Acc Id: XM_054374113   ⟹   XP_054230088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013111,623,523 - 111,681,824 (+)NCBI
Protein Sequences
Protein RefSeqs NP_660291 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535768 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535769 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535770 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535773 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535774 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875880 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875881 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184914 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184915 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184916 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230088 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH16750 (Get FASTA)   NCBI Sequence Viewer  
  EAX09162 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000283550
  ENSP00000283550.3
  ENSP00000480272.1
GenBank Protein Q96KW9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_660291   ⟸   NM_145248
- Peptide Label: precursor
- UniProtKB: Q5T8L1 (UniProtKB/Swiss-Prot),   Q96KW9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535768   ⟸   XM_011537466
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011535770   ⟸   XM_011537468
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011535773   ⟸   XM_011537471
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011535774   ⟸   XM_011537472
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011535769   ⟸   XM_011537467
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016875880   ⟸   XM_017020391
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016875881   ⟸   XM_017020392
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_024305086   ⟸   XM_024449318
- Peptide Label: isoform X6
- UniProtKB: Q5T8L4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000416096   ⟸   ENST00000414180
Ensembl Acc Id: ENSP00000364851   ⟸   ENST00000375699
Ensembl Acc Id: ENSP00000283550   ⟸   ENST00000283550
Ensembl Acc Id: ENSP00000406733   ⟸   ENST00000443541
RefSeq Acc Id: XP_054230083   ⟸   XM_054374108
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230088   ⟸   XM_054374113
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054230084   ⟸   XM_054374109
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230081   ⟸   XM_054374106
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230085   ⟸   XM_054374110
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054230082   ⟸   XM_054374107
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230086   ⟸   XM_054374111
- Peptide Label: isoform X6
- UniProtKB: Q5T8L4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054230087   ⟸   XM_054374112
- Peptide Label: isoform X7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96KW9-F1-model_v2 AlphaFold Q96KW9 1-195 view protein structure

Promoters
RGD ID:7226857
Promoter ID:EPDNEW_H19174
Type:initiation region
Name:SPACA7_1
Description:sperm acrosome associated 7
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
GRCh3813112,376,356 - 112,376,416EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29575 AgrOrtholog
COSMIC SPACA7 COSMIC
Ensembl Genes ENSG00000153498 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000275865 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000283550 ENTREZGENE
  ENST00000283550.8 UniProtKB/Swiss-Prot
  ENST00000610393.2 UniProtKB/Swiss-Prot
GTEx ENSG00000153498 GTEx
  ENSG00000275865 GTEx
HGNC ID HGNC:29575 ENTREZGENE
Human Proteome Map SPACA7 Human Proteome Map
InterPro SPACA7 UniProtKB/Swiss-Prot
KEGG Report hsa:122258 UniProtKB/Swiss-Prot
NCBI Gene 122258 ENTREZGENE
Pfam SPACA7 UniProtKB/Swiss-Prot
PharmGKB PA147358486 PharmGKB
UniProt Q5T8L1 ENTREZGENE
  Q5T8L4 ENTREZGENE, UniProtKB/TrEMBL
  Q5T8L5_HUMAN UniProtKB/TrEMBL
  Q5T8L6_HUMAN UniProtKB/TrEMBL
  Q96KW9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5T8L1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 SPACA7  sperm acrosome associated 7  C13orf28  chromosome 13 open reading frame 28  Symbol and/or name change 5135510 APPROVED