SPATA13 (spermatogenesis associated 13) - Rat Genome Database

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Gene: SPATA13 (spermatogenesis associated 13) Homo sapiens
Analyze
Symbol: SPATA13
Name: spermatogenesis associated 13
RGD ID: 1316520
HGNC Page HGNC:23222
Description: Enables guanyl-nucleotide exchange factor activity and identical protein binding activity. Involved in cell migration; plasma membrane bounded cell projection assembly; and regulation of cell migration. Located in several cellular components, including filopodium; lamellipodium; and ruffle membrane.
Type: protein-coding (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: adenomatous polyposis coli stimulated exchange factor 2; APC-stimulated guanine nucleotide exchange factor 2; ARHGEF29; ASEF2; FLJ31208; FLJ35435; MGC129988; MGC129989; RP11-307N16.3; RP11-309I15.1; spermatogenesis-associated protein 13
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
GRCh381323,979,802 - 24,307,069 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1323,979,805 - 24,307,074 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1323,979,810 - 24,035,027 (+)EnsemblGRCh38hg38GRCh38
GRCh371324,553,941 - 24,881,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361323,632,887 - 23,776,048 (+)NCBINCBI36Build 36hg18NCBI36
Build 341323,632,886 - 23,776,048NCBI
Celera135,797,087 - 5,943,877 (+)NCBICelera
Cytogenetic Map13q12.12NCBI
HuRef135,546,585 - 5,692,908 (+)NCBIHuRef
CHM1_11324,702,689 - 24,849,248 (+)NCBICHM1_1
T2T-CHM13v2.01323,186,689 - 23,514,163 (+)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
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
chlordecone  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
hydrogen cyanide  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methoxychlor  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
propiconazole  (ISO)
raloxifene  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell projection  (IEA)
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA,TAS)
filopodium  (IDA,IEA)
lamellipodium  (IDA,IEA)
nucleoplasm  (IDA)
plasma membrane  (IEA)
ruffle membrane  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15057823   PMID:15342556   PMID:15489334   PMID:16344560   PMID:17145773   PMID:17599059   PMID:18029348   PMID:18821565   PMID:19151759   PMID:19910543  
PMID:19934221   PMID:21873635   PMID:22064162   PMID:22419666   PMID:22745667   PMID:22837378   PMID:24144700   PMID:24623842   PMID:24874604   PMID:27107012   PMID:28514442   PMID:29507755  
PMID:29845934   PMID:31586073   PMID:32203420   PMID:32339198   PMID:33961781   PMID:34048709   PMID:35748872   PMID:36724073   PMID:36931259  


Genomics

Comparative Map Data
SPATA13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381323,979,802 - 24,307,069 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1323,979,805 - 24,307,074 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1323,979,810 - 24,035,027 (+)EnsemblGRCh38hg38GRCh38
GRCh371324,553,941 - 24,881,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361323,632,887 - 23,776,048 (+)NCBINCBI36Build 36hg18NCBI36
Build 341323,632,886 - 23,776,048NCBI
Celera135,797,087 - 5,943,877 (+)NCBICelera
Cytogenetic Map13q12.12NCBI
HuRef135,546,585 - 5,692,908 (+)NCBIHuRef
CHM1_11324,702,689 - 24,849,248 (+)NCBICHM1_1
T2T-CHM13v2.01323,186,689 - 23,514,163 (+)NCBIT2T-CHM13v2.0
Spata13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391460,722,617 - 61,002,005 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1460,871,450 - 61,002,005 (+)EnsemblGRCm39 Ensembl
GRCm381460,485,168 - 60,764,556 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1460,634,001 - 60,764,556 (+)EnsemblGRCm38mm10GRCm38
MGSCv371461,253,566 - 61,383,393 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361459,588,150 - 59,718,666 (+)NCBIMGSCv36mm8
Celera1458,411,392 - 58,543,017 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1431.77NCBI
Spata13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81538,954,585 - 39,083,752 (+)NCBIGRCr8
mRatBN7.21534,778,479 - 34,907,645 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1534,778,473 - 34,905,114 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1536,639,905 - 36,765,712 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01537,790,530 - 37,916,332 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01536,239,655 - 36,365,236 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01540,937,652 - 41,066,645 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1540,937,708 - 41,066,769 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01544,749,770 - 44,878,760 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41539,722,469 - 39,849,214 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11539,806,342 - 39,864,914 (+)NCBI
Celera1534,478,795 - 34,605,121 (+)NCBICelera
Cytogenetic Map15p12NCBI
Spata13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554974,224,374 - 4,307,335 (-)NCBIChiLan1.0ChiLan1.0
SPATA13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21423,602,119 - 23,930,638 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11314,711,983 - 15,039,595 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0135,298,466 - 5,626,162 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11323,772,869 - 23,921,025 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1323,837,412 - 23,921,025 (+)Ensemblpanpan1.1panPan2
SPATA13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12514,389,174 - 14,732,665 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2514,667,527 - 14,811,327 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02514,720,317 - 14,864,381 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12514,665,576 - 14,745,923 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02514,686,844 - 14,748,577 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02514,652,735 - 14,796,901 (+)NCBIUU_Cfam_GSD_1.0
Spata13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945116,635,240 - 116,957,681 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366881,433,231 - 1,569,954 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPATA13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1112,806,674 - 3,161,372 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2112,160,029 - 2,281,822 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPATA13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.133,767,078 - 4,085,379 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl33,932,482 - 4,085,375 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605740,409,981 - 40,742,603 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Spata13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477613,703,451 - 13,852,924 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SPATA13
71 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|See cases [RCV000051232] Chr13:22904496..24490885 [GRCh38]
Chr13:23478635..25065023 [GRCh37]
Chr13:22376635..23963023 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1 copy number loss See cases [RCV000051233] Chr13:22992823..24316005 [GRCh38]
Chr13:23566962..24890143 [GRCh37]
Chr13:22464962..23788143 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 copy number gain See cases [RCV000051234] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|See cases [RCV000051235] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3 copy number gain See cases [RCV000051307] Chr13:22941375..24286142 [GRCh38]
Chr13:23515514..24860280 [GRCh37]
Chr13:22413514..23758280 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3 copy number gain See cases [RCV000051308] Chr13:22980339..24363444 [GRCh38]
Chr13:23554478..24937582 [GRCh37]
Chr13:22452478..23835582 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3 copy number gain See cases [RCV000051309] Chr13:22992623..24336746 [GRCh38]
Chr13:23566762..24910884 [GRCh37]
Chr13:22464762..23808884 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] Chr13:19837395..24884509 [GRCh38]
Chr13:20411535..25458647 [GRCh37]
Chr13:19309535..24356647 [NCBI36]
Chr13:13q12.11-12.12
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 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3
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 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3
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
NM_001166271.2(SPATA13):c.2432G>A (p.Trp811Ter) single nucleotide variant Malignant melanoma [RCV000070320] Chr13:24286344 [GRCh38]
Chr13:24860482 [GRCh37]
Chr13:23758482 [NCBI36]
Chr13:13q12.12
not provided
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 copy number loss See cases [RCV000051235] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:24202115-24336546)x3 copy number gain See cases [RCV000134427] Chr13:24202115..24336546 [GRCh38]
Chr13:24776253..24910684 [GRCh37]
Chr13:23674253..23808684 [NCBI36]
Chr13:13q12.12
benign
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 13q12.12(chr13:22992950-24336636)x1 copy number loss See cases [RCV000134057] Chr13:22992950..24336636 [GRCh38]
Chr13:23567089..24910774 [GRCh37]
Chr13:22465089..23808774 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1 copy number loss See cases [RCV000134882] Chr13:23045243..24253602 [GRCh38]
Chr13:23619382..24827740 [GRCh37]
Chr13:22517382..23725740 [NCBI36]
Chr13:13q12.12
uncertain significance
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 13q12.12(chr13:22764286-24444616)x3 copy number gain See cases [RCV000135612] Chr13:22764286..24444616 [GRCh38]
Chr13:23338425..25018754 [GRCh37]
Chr13:22236425..23916754 [NCBI36]
Chr13:13q12.12
likely benign
GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3 copy number gain See cases [RCV000138208] Chr13:22980365..24370481 [GRCh38]
Chr13:23554504..24944619 [GRCh37]
Chr13:22452504..23842619 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11
pathogenic
GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3 copy number gain See cases [RCV000138877] Chr13:22943845..24355293 [GRCh38]
Chr13:23517984..24929431 [GRCh37]
Chr13:22415984..23827431 [NCBI36]
Chr13:13q12.12
uncertain significance|conflicting data from submitters
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 13q12.12(chr13:24253545-24534736)x3 copy number gain See cases [RCV000139090] Chr13:24253545..24534736 [GRCh38]
Chr13:24827683..25108874 [GRCh37]
Chr13:23725683..24006874 [NCBI36]
Chr13:13q12.12
likely benign
GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3 copy number gain See cases [RCV000140092] Chr13:22959219..24384434 [GRCh38]
Chr13:23533358..24958572 [GRCh37]
Chr13:22431358..23856572 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3 copy number gain See cases [RCV000139968] Chr13:22980365..24336546 [GRCh38]
Chr13:23554504..24910684 [GRCh37]
Chr13:22452504..23808684 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3 copy number gain See cases [RCV000139971] Chr13:22943845..24336546 [GRCh38]
Chr13:23517984..24910684 [GRCh37]
Chr13:22415984..23808684 [NCBI36]
Chr13:13q12.12
uncertain significance
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 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2
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 13q12.11-12.13(chr13:19671934-24985872)x1 copy number loss See cases [RCV000143197] Chr13:19671934..24985872 [GRCh38]
Chr13:20246074..25560010 [GRCh37]
Chr13:19144074..24458010 [NCBI36]
Chr13:13q12.11-12.13
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 13q12.12(chr13:22992823-24336605)x3 copy number gain See cases [RCV000148116] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12
uncertain significance
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
GRCh38/hg38 13q12.12(chr13:23518725-24153706)x1 copy number loss See cases [RCV000050920] Chr13:23518725..24153706 [GRCh38]
Chr13:24092864..24727845 [GRCh37]
Chr13:22990864..23625845 [NCBI36]
Chr13:13q12.12
uncertain significance
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 13q12.12(chr13:23515553-24927971)x1 copy number loss See cases [RCV000258794] Chr13:23515553..24927971 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1 copy number loss See cases [RCV000446032] Chr13:23671134..24896556 [GRCh37]
Chr13:13q12.12
pathogenic
GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3 copy number gain Premature ovarian failure [RCV000225145] Chr13:23368834..24815661 [GRCh37]
Chr13:13q12.12
benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3 copy number gain See cases [RCV000240032] Chr13:23671134..25009594 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:22423865-25504992)x3 copy number gain not provided [RCV001270639] Chr13:22423865..25504992 [GRCh37]
Chr13:13q12.11-12.13
uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Cardiomyopathy [RCV000611072] Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12
pathogenic
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 copy number loss See cases [RCV000449195] Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12
uncertain significance
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 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NC_000013.10:g.(?_23544669)_(24893183_?)del deletion Schizophrenia [RCV000416747] Chr13:23544669..24893183 [GRCh37]
Chr13:22442669..23791183 [NCBI36]
Chr13:13q12.12
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23533358-24958572)x1 copy number loss See cases [RCV000510304] Chr13:23533358..24958572 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 copy number loss See cases [RCV000510615] Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 copy number loss See cases [RCV000511657] Chr13:23552966..27027909 [GRCh37]
Chr13:13q12.12-12.13
likely pathogenic
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss See cases [RCV000511873] Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.2234A>G (p.Tyr745Cys) single nucleotide variant Inborn genetic diseases [RCV003257508] Chr13:24284204 [GRCh38]
Chr13:24858342 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.16G>A (p.Val6Met) single nucleotide variant Inborn genetic diseases [RCV003279554] Chr13:24222945 [GRCh38]
Chr13:24797083 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.884C>T (p.Thr295Ile) single nucleotide variant Inborn genetic diseases [RCV003271207] Chr13:24223813 [GRCh38]
Chr13:24797951 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2
drug response
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 copy number loss See cases [RCV000512192] Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12(chr13:23519916-24936994)x3 copy number gain not provided [RCV000683548] Chr13:23519916..24936994 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12(chr13:23525351-24910183)x3 copy number gain not provided [RCV000683546] Chr13:23525351..24910183 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 copy number loss not provided [RCV000683547] Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 copy number loss not provided [RCV000683564] Chr13:20008480..25534121 [GRCh37]
Chr13:13q12.11-12.13
pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
NC_000013.11:g.(?_22968338)_(24323208_?)del deletion Schizophrenia [RCV000754142] Chr13:22968338..24323208 [GRCh38]
Chr13:13q12.12
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23546238-25021200)x3 copy number gain not provided [RCV000750668] Chr13:23546238..25021200 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24925728)x1 copy number loss not provided [RCV000846318] Chr13:23506404..24925728 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13
pathogenic
GRCh37/hg19 13q12.12(chr13:23506404-24926597)x1 copy number loss not provided [RCV000846686] Chr13:23506404..24926597 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24909793)x1 copy number loss not provided [RCV000847939] Chr13:23506404..24909793 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24928440)x1 copy number loss not provided [RCV000846619] Chr13:23506404..24928440 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1 copy number loss not provided [RCV001006544] Chr13:19436286..24970361 [GRCh37]
Chr13:13q11-12.12
pathogenic
NM_001166271.3(SPATA13):c.1124G>A (p.Arg375Gln) single nucleotide variant Inborn genetic diseases [RCV003240989] Chr13:24224053 [GRCh38]
Chr13:24798191 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23529865-24963501)x3 copy number gain not provided [RCV001006552] Chr13:23529865..24963501 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12(chr13:23482111-24896608)x1 copy number loss not provided [RCV001006551] Chr13:23482111..24896608 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3
likely pathogenic
NC_000013.11:g.22924987_24337204del deletion See cases [RCV003313804] Chr13:22924987..24337204 [GRCh38]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_001166271.3(SPATA13):c.1925A>G (p.Lys642Arg) single nucleotide variant Inborn genetic diseases [RCV003197852] Chr13:24249748 [GRCh38]
Chr13:24823886 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23553363-24970361)x1 copy number loss not provided [RCV001827677] Chr13:23553363..24970361 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:24781425-24823602)x1 copy number loss not specified [RCV002053042] Chr13:24781425..24823602 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12-12.13(chr13:23315046-25573967)x3 copy number gain not provided [RCV001834502] Chr13:23315046..25573967 [GRCh37]
Chr13:13q12.12-12.13
uncertain significance
NC_000013.10:g.(?_24293859)_(26594123_?)del deletion not provided [RCV003119915] Chr13:24293859..26594123 [GRCh37]
Chr13:13q12.12-12.13
pathogenic
NM_001166271.3(SPATA13):c.1770C>A (p.Phe590Leu) single nucleotide variant Inborn genetic diseases [RCV003254153] Chr13:24249593 [GRCh38]
Chr13:24823731 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.1670C>T (p.Pro557Leu) single nucleotide variant Inborn genetic diseases [RCV003295838] Chr13:24249493 [GRCh38]
Chr13:24823631 [GRCh37]
Chr13:13q12.12
uncertain significance
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 13q12.12(chr13:23981973-24963501)x3 copy number gain See cases [RCV002287558] Chr13:23981973..24963501 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2949T>A (p.Phe983Leu) single nucleotide variant Inborn genetic diseases [RCV003284922] Chr13:24290753 [GRCh38]
Chr13:24864891 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1565T>C (p.Leu522Pro) single nucleotide variant Inborn genetic diseases [RCV002990387] Chr13:24224494 [GRCh38]
Chr13:24798632 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.133C>T (p.Leu45Phe) single nucleotide variant Inborn genetic diseases [RCV002752697] Chr13:24223062 [GRCh38]
Chr13:24797200 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.191A>T (p.Glu64Val) single nucleotide variant Inborn genetic diseases [RCV002689848] Chr13:24223120 [GRCh38]
Chr13:24797258 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2000T>C (p.Leu667Pro) single nucleotide variant Inborn genetic diseases [RCV002727912] Chr13:24249823 [GRCh38]
Chr13:24823961 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1657G>A (p.Val553Ile) single nucleotide variant Inborn genetic diseases [RCV002689785] Chr13:24249480 [GRCh38]
Chr13:24823618 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1633G>A (p.Glu545Lys) single nucleotide variant Inborn genetic diseases [RCV002774681] Chr13:24224562 [GRCh38]
Chr13:24798700 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.124G>A (p.Val42Met) single nucleotide variant Inborn genetic diseases [RCV002732192] Chr13:24223053 [GRCh38]
Chr13:24797191 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.20G>A (p.Arg7Gln) single nucleotide variant Inborn genetic diseases [RCV002817337] Chr13:24222949 [GRCh38]
Chr13:24797087 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.86C>T (p.Ala29Val) single nucleotide variant Inborn genetic diseases [RCV002732813] Chr13:24223015 [GRCh38]
Chr13:24797153 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2710G>A (p.Val904Ile) single nucleotide variant Inborn genetic diseases [RCV002782073]|SPATA13-related condition [RCV003953986] Chr13:24289041 [GRCh38]
Chr13:24863179 [GRCh37]
Chr13:13q12.12
likely benign|uncertain significance
NM_001166271.3(SPATA13):c.496C>G (p.Pro166Ala) single nucleotide variant Inborn genetic diseases [RCV002848798] Chr13:24223425 [GRCh38]
Chr13:24797563 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.3173A>G (p.Lys1058Arg) single nucleotide variant Inborn genetic diseases [RCV002868998] Chr13:24294831 [GRCh38]
Chr13:24868969 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2261G>A (p.Arg754Gln) single nucleotide variant Inborn genetic diseases [RCV002784495] Chr13:24284231 [GRCh38]
Chr13:24858369 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.3215T>C (p.Leu1072Pro) single nucleotide variant Inborn genetic diseases [RCV002910924] Chr13:24297367 [GRCh38]
Chr13:24871505 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1871C>A (p.Ala624Glu) single nucleotide variant Inborn genetic diseases [RCV002977456] Chr13:24249694 [GRCh38]
Chr13:24823832 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.523C>T (p.Pro175Ser) single nucleotide variant Inborn genetic diseases [RCV002757670] Chr13:24223452 [GRCh38]
Chr13:24797590 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.835A>G (p.Thr279Ala) single nucleotide variant Inborn genetic diseases [RCV002888091] Chr13:24223764 [GRCh38]
Chr13:24797902 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2399A>T (p.Gln800Leu) single nucleotide variant Inborn genetic diseases [RCV002868366] Chr13:24286311 [GRCh38]
Chr13:24860449 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.70G>A (p.Gly24Arg) single nucleotide variant Inborn genetic diseases [RCV002916812] Chr13:24222999 [GRCh38]
Chr13:24797137 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.8A>G (p.Gln3Arg) single nucleotide variant Inborn genetic diseases [RCV002745023] Chr13:24222937 [GRCh38]
Chr13:24797075 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.768C>G (p.Asp256Glu) single nucleotide variant Inborn genetic diseases [RCV002892958] Chr13:24223697 [GRCh38]
Chr13:24797835 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1066C>T (p.Arg356Trp) single nucleotide variant Inborn genetic diseases [RCV002896936] Chr13:24223995 [GRCh38]
Chr13:24798133 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2603A>G (p.Asn868Ser) single nucleotide variant Inborn genetic diseases [RCV002652188] Chr13:24286886 [GRCh38]
Chr13:24861024 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1172C>G (p.Pro391Arg) single nucleotide variant Inborn genetic diseases [RCV002897410] Chr13:24224101 [GRCh38]
Chr13:24798239 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1192T>C (p.Ser398Pro) single nucleotide variant Inborn genetic diseases [RCV002668906] Chr13:24224121 [GRCh38]
Chr13:24798259 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.218T>C (p.Val73Ala) single nucleotide variant Inborn genetic diseases [RCV002896836] Chr13:24223147 [GRCh38]
Chr13:24797285 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.3358A>G (p.Met1120Val) single nucleotide variant Inborn genetic diseases [RCV002718192] Chr13:24297510 [GRCh38]
Chr13:24871648 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.419C>T (p.Ser140Leu) single nucleotide variant Inborn genetic diseases [RCV002673087] Chr13:24223348 [GRCh38]
Chr13:24797486 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.2138G>A (p.Arg713His) single nucleotide variant Inborn genetic diseases [RCV002675263] Chr13:24251836 [GRCh38]
Chr13:24825974 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.395A>T (p.Asn132Ile) single nucleotide variant Inborn genetic diseases [RCV002896937] Chr13:24223324 [GRCh38]
Chr13:24797462 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.44A>G (p.Asn15Ser) single nucleotide variant Inborn genetic diseases [RCV002855061] Chr13:24222973 [GRCh38]
Chr13:24797111 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1661C>G (p.Pro554Arg) single nucleotide variant Inborn genetic diseases [RCV002935405] Chr13:24249484 [GRCh38]
Chr13:24823622 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1787T>C (p.Leu596Pro) single nucleotide variant Inborn genetic diseases [RCV002672775] Chr13:24249610 [GRCh38]
Chr13:24823748 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2129G>A (p.Arg710His) single nucleotide variant Inborn genetic diseases [RCV002717661] Chr13:24251827 [GRCh38]
Chr13:24825965 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1750C>T (p.Arg584Trp) single nucleotide variant Inborn genetic diseases [RCV002678705] Chr13:24249573 [GRCh38]
Chr13:24823711 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.418T>G (p.Ser140Ala) single nucleotide variant Inborn genetic diseases [RCV002656072] Chr13:24223347 [GRCh38]
Chr13:24797485 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.151G>A (p.Val51Ile) single nucleotide variant Inborn genetic diseases [RCV003295773] Chr13:24223080 [GRCh38]
Chr13:24797218 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2143C>T (p.Arg715Trp) single nucleotide variant Inborn genetic diseases [RCV003210641] Chr13:24251841 [GRCh38]
Chr13:24825979 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2180G>T (p.Gly727Val) single nucleotide variant Inborn genetic diseases [RCV003218149] Chr13:24284150 [GRCh38]
Chr13:24858288 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.44A>T (p.Asn15Ile) single nucleotide variant Inborn genetic diseases [RCV003300763] Chr13:24222973 [GRCh38]
Chr13:24797111 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.579C>A (p.Phe193Leu) single nucleotide variant Inborn genetic diseases [RCV003213002] Chr13:24223508 [GRCh38]
Chr13:24797646 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1072C>T (p.His358Tyr) single nucleotide variant Inborn genetic diseases [RCV003209114] Chr13:24224001 [GRCh38]
Chr13:24798139 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2389G>T (p.Asp797Tyr) single nucleotide variant Inborn genetic diseases [RCV003201829] Chr13:24286301 [GRCh38]
Chr13:24860439 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2141G>A (p.Arg714Gln) single nucleotide variant Inborn genetic diseases [RCV003342155] Chr13:24251839 [GRCh38]
Chr13:24825977 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.1397C>T (p.Pro466Leu) single nucleotide variant Inborn genetic diseases [RCV003374737] Chr13:24224326 [GRCh38]
Chr13:24798464 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.2021C>T (p.Pro674Leu) single nucleotide variant Inborn genetic diseases [RCV003354062] Chr13:24251719 [GRCh38]
Chr13:24825857 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.3821C>T (p.Pro1274Leu) single nucleotide variant Inborn genetic diseases [RCV003383152] Chr13:24302760 [GRCh38]
Chr13:24876898 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.790A>G (p.Ser264Gly) single nucleotide variant Inborn genetic diseases [RCV003374426] Chr13:24223719 [GRCh38]
Chr13:24797857 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_001166271.3(SPATA13):c.3741C>T (p.Val1247=) single nucleotide variant not provided [RCV003410986] Chr13:24302680 [GRCh38]
Chr13:24876818 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.1154C>T (p.Ala385Val) single nucleotide variant SPATA13-related condition [RCV003939463] Chr13:24224083 [GRCh38]
Chr13:24798221 [GRCh37]
Chr13:13q12.12
benign
NM_001166271.3(SPATA13):c.840C>T (p.Ala280=) single nucleotide variant SPATA13-related condition [RCV003939291] Chr13:24223769 [GRCh38]
Chr13:24797907 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.2667+8G>A single nucleotide variant SPATA13-related condition [RCV003941361] Chr13:24286958 [GRCh38]
Chr13:24861096 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 copy number gain not specified [RCV003987034] Chr13:23329180..28663294 [GRCh37]
Chr13:13q12.12-12.2
uncertain significance
NM_001166271.3(SPATA13):c.497C>T (p.Pro166Leu) single nucleotide variant SPATA13-related condition [RCV003941809] Chr13:24223426 [GRCh38]
Chr13:24797564 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.2437C>T (p.Arg813Cys) single nucleotide variant SPATA13-related condition [RCV003951608] Chr13:24286349 [GRCh38]
Chr13:24860487 [GRCh37]
Chr13:13q12.12
benign
NM_001166271.3(SPATA13):c.174C>T (p.Gly58=) single nucleotide variant SPATA13-related condition [RCV003914573] Chr13:24223103 [GRCh38]
Chr13:24797241 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.2165-13279G>C single nucleotide variant SPATA13-related condition [RCV003974585] Chr13:24270856 [GRCh38]
Chr13:24844994 [GRCh37]
Chr13:13q12.12
benign
NM_001166271.3(SPATA13):c.102G>A (p.Ser34=) single nucleotide variant SPATA13-related condition [RCV003929842] Chr13:24223031 [GRCh38]
Chr13:24797169 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.3299C>T (p.Thr1100Met) single nucleotide variant SPATA13-related condition [RCV003977049] Chr13:24297451 [GRCh38]
Chr13:24871589 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.266G>C (p.Arg89Pro) single nucleotide variant SPATA13-related condition [RCV003912289] Chr13:24223195 [GRCh38]
Chr13:24797333 [GRCh37]
Chr13:13q12.12
benign
NM_001166271.3(SPATA13):c.1401C>T (p.Thr467=) single nucleotide variant SPATA13-related condition [RCV003951626] Chr13:24224330 [GRCh38]
Chr13:24798468 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.1933C>T (p.Arg645Trp) single nucleotide variant SPATA13-related condition [RCV003979256] Chr13:24249756 [GRCh38]
Chr13:24823894 [GRCh37]
Chr13:13q12.12
benign
NM_001166271.3(SPATA13):c.1967T>C (p.Val656Ala) single nucleotide variant SPATA13-related condition [RCV003982301] Chr13:24249790 [GRCh38]
Chr13:24823928 [GRCh37]
Chr13:13q12.12
benign
NM_001166271.3(SPATA13):c.2668-7T>C single nucleotide variant SPATA13-related condition [RCV003949778] Chr13:24288992 [GRCh38]
Chr13:24863130 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.1439C>T (p.Pro480Leu) single nucleotide variant SPATA13-related condition [RCV003964495] Chr13:24224368 [GRCh38]
Chr13:24798506 [GRCh37]
Chr13:13q12.12
benign
NM_001166271.3(SPATA13):c.714C>T (p.Leu238=) single nucleotide variant SPATA13-related condition [RCV003949867] Chr13:24223643 [GRCh38]
Chr13:24797781 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.2544C>T (p.Asp848=) single nucleotide variant SPATA13-related condition [RCV003934008] Chr13:24286827 [GRCh38]
Chr13:24860965 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.2634G>C (p.Arg878=) single nucleotide variant SPATA13-related condition [RCV003934013] Chr13:24286917 [GRCh38]
Chr13:24861055 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.3216G>A (p.Leu1072=) single nucleotide variant SPATA13-related condition [RCV003959636] Chr13:24297368 [GRCh38]
Chr13:24871506 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.1991C>T (p.Thr664Met) single nucleotide variant SPATA13-related condition [RCV003924032] Chr13:24249814 [GRCh38]
Chr13:24823952 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.3087C>T (p.Tyr1029=) single nucleotide variant SPATA13-related condition [RCV003942173] Chr13:24294745 [GRCh38]
Chr13:24868883 [GRCh37]
Chr13:13q12.12
likely benign
NM_001166271.3(SPATA13):c.-61C>T single nucleotide variant SPATA13-related condition [RCV003921917] Chr13:24222869 [GRCh38]
Chr13:24797007 [GRCh37]
Chr13:13q12.12
benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6787
Count of miRNA genes:1235
Interacting mature miRNAs:1537
Transcripts:ENST00000343003, ENST00000382095, ENST00000382108, ENST00000382141, ENST00000399949, ENST00000409126, ENST00000424834, ENST00000434675, ENST00000439928, ENST00000454083, ENST00000466831, ENST00000474317, ENST00000488060, ENST00000494772
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
D13S1243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,807,993 - 24,808,246UniSTSGRCh37
Build 361323,705,993 - 23,706,246RGDNCBI36
Celera135,870,696 - 5,870,945RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,619,713 - 5,619,962UniSTS
Marshfield Genetic Map139.79RGD
Marshfield Genetic Map139.79UniSTS
Genethon Genetic Map1311.5UniSTS
deCODE Assembly Map1311.21UniSTS
Whitehead-YAC Contig Map13 UniSTS
SHGC-79986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,793,650 - 24,793,854UniSTSGRCh37
Build 361323,691,650 - 23,691,854RGDNCBI36
Celera135,856,353 - 5,856,557RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,605,370 - 5,605,574UniSTS
TNG Radiation Hybrid Map132533.0UniSTS
RH119475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,788,682 - 24,788,964UniSTSGRCh37
Build 361323,686,682 - 23,686,964RGDNCBI36
Celera135,851,385 - 5,851,667RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,600,402 - 5,600,684UniSTS
TNG Radiation Hybrid Map132507.0UniSTS
RH122701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,793,379 - 24,793,726UniSTSGRCh37
Build 361323,691,379 - 23,691,726RGDNCBI36
Celera135,856,082 - 5,856,429RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,605,099 - 5,605,446UniSTS
TNG Radiation Hybrid Map132533.0UniSTS
SHGC-141772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,795,335 - 24,795,647UniSTSGRCh37
Build 361323,693,335 - 23,693,647RGDNCBI36
Celera135,858,038 - 5,858,350RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,607,055 - 5,607,366UniSTS
TNG Radiation Hybrid Map132542.0UniSTS
SHGC-151206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,807,990 - 24,808,317UniSTSGRCh37
Build 361323,705,990 - 23,706,317RGDNCBI36
Celera135,870,693 - 5,871,016RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,619,710 - 5,620,033UniSTS
TNG Radiation Hybrid Map132522.0UniSTS
SHGC-152360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,808,025 - 24,808,317UniSTSGRCh37
GRCh371324,808,043 - 24,808,317UniSTSGRCh37
Build 361323,706,025 - 23,706,317RGDNCBI36
Celera135,870,742 - 5,871,016UniSTS
Celera135,870,728 - 5,871,016RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,619,759 - 5,620,033UniSTS
HuRef135,619,745 - 5,620,033UniSTS
TNG Radiation Hybrid Map191136.0UniSTS
D13S850E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,880,935 - 24,881,067UniSTSGRCh37
Build 361323,778,935 - 23,779,067RGDNCBI36
Celera135,943,600 - 5,943,732RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,692,631 - 5,692,763UniSTS
GeneMap99-GB4 RH Map1373.97UniSTS
A009L18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,876,365 - 24,876,494UniSTSGRCh37
Build 361323,774,365 - 23,774,494RGDNCBI36
Celera135,939,030 - 5,939,159RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,688,071 - 5,688,200UniSTS
GeneMap99-GB4 RH Map1374.49UniSTS
NCBI RH Map13142.5UniSTS
RH70141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,819,044 - 24,819,195UniSTSGRCh37
Build 361323,717,044 - 23,717,195RGDNCBI36
Celera135,881,716 - 5,881,867RGD
Cytogenetic Map13q12.12UniSTS
HuRef135,630,730 - 5,630,881UniSTS
GeneMap99-GB4 RH Map1351.1UniSTS
NCBI RH Map13135.1UniSTS
SPATA13__5290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,877,381 - 24,878,104UniSTSGRCh37
Build 361323,775,381 - 23,776,104RGDNCBI36
Celera135,940,046 - 5,940,769RGD
HuRef135,689,077 - 5,689,800UniSTS
G32646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,876,365 - 24,876,494UniSTSGRCh37
Celera135,939,030 - 5,939,159UniSTS
Cytogenetic Map13q12.12UniSTS
HuRef135,688,071 - 5,688,200UniSTS
D11S3590  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map18p11.32UniSTS


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 1124 578 1325 314 1077 248 1522 163 1906 212 743 1327 70 283 998 2
Low 1334 2447 565 323 994 231 3087 2032 2341 293 1191 535 101 931 2004 3 1
Below cutoff 1345 1506 1134 382 587 307 1998 1059 2652 272 759 1079 88 1 739 1288 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001166271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK025586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK160371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK006072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP201334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB221004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY002340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000343003   ⟹   ENSP00000343631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,270,687 - 24,307,074 (+)Ensembl
RefSeq Acc Id: ENST00000382095   ⟹   ENSP00000371527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,160,748 - 24,307,072 (+)Ensembl
RefSeq Acc Id: ENST00000382108   ⟹   ENSP00000371542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,160,720 - 24,307,069 (+)Ensembl
RefSeq Acc Id: ENST00000382141   ⟹   ENSP00000371576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1323,979,700 - 24,321,031 (+)Ensembl
RefSeq Acc Id: ENST00000399949   ⟹   ENSP00000382830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,270,688 - 24,303,904 (+)Ensembl
RefSeq Acc Id: ENST00000409126   ⟹   ENSP00000386471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,270,719 - 24,303,206 (+)Ensembl
RefSeq Acc Id: ENST00000424834   ⟹   ENSP00000398560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1323,979,805 - 24,307,069 (+)Ensembl
RefSeq Acc Id: ENST00000434675   ⟹   ENSP00000401605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,251,694 - 24,303,121 (+)Ensembl
RefSeq Acc Id: ENST00000439928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1323,979,810 - 24,035,027 (+)Ensembl
RefSeq Acc Id: ENST00000454083   ⟹   ENSP00000397498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,270,841 - 24,286,393 (+)Ensembl
RefSeq Acc Id: ENST00000466831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,160,722 - 24,224,798 (+)Ensembl
RefSeq Acc Id: ENST00000474317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,224,241 - 24,249,663 (+)Ensembl
RefSeq Acc Id: ENST00000488060   ⟹   ENSP00000477304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,272,689 - 24,278,769 (+)Ensembl
RefSeq Acc Id: ENST00000494772   ⟹   ENSP00000477296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1324,251,718 - 24,278,769 (+)Ensembl
RefSeq Acc Id: NM_001166271   ⟹   NP_001159743
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,160,720 - 24,307,069 (+)NCBI
GRCh371324,553,765 - 24,881,212 (+)NCBI
Celera135,797,087 - 5,943,877 (+)RGD
HuRef135,364,974 - 5,692,908 (+)NCBI
CHM1_11324,702,683 - 24,849,248 (+)NCBI
T2T-CHM13v2.01323,367,745 - 23,514,163 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286792   ⟹   NP_001273721
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,979,802 - 24,307,069 (+)NCBI
HuRef135,364,974 - 5,692,908 (+)NCBI
CHM1_11324,521,954 - 24,849,248 (+)NCBI
T2T-CHM13v2.01323,186,689 - 23,514,163 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286793   ⟹   NP_001273722
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,270,750 - 24,307,069 (+)NCBI
HuRef135,364,974 - 5,692,908 (+)NCBI
CHM1_11324,812,851 - 24,849,248 (+)NCBI
T2T-CHM13v2.01323,477,816 - 23,514,163 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286794   ⟹   NP_001273723
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,270,750 - 24,307,069 (+)NCBI
HuRef135,364,974 - 5,692,908 (+)NCBI
CHM1_11324,812,851 - 24,849,248 (+)NCBI
T2T-CHM13v2.01323,477,816 - 23,514,163 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286795   ⟹   NP_001273724
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,270,750 - 24,307,069 (+)NCBI
HuRef135,364,974 - 5,692,908 (+)NCBI
CHM1_11324,812,851 - 24,849,248 (+)NCBI
T2T-CHM13v2.01323,477,816 - 23,514,163 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153023   ⟹   NP_694568
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,160,720 - 24,307,069 (+)NCBI
GRCh371324,553,765 - 24,881,212 (+)NCBI
Build 361323,632,887 - 23,776,048 (+)NCBI Archive
Celera135,797,087 - 5,943,877 (+)RGD
HuRef135,364,974 - 5,692,908 (+)NCBI
CHM1_11324,702,683 - 24,849,248 (+)NCBI
T2T-CHM13v2.01323,367,745 - 23,514,163 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104595
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,979,802 - 24,035,033 (+)NCBI
HuRef135,364,974 - 5,692,908 (+)NCBI
CHM1_11324,521,954 - 24,577,314 (+)NCBI
T2T-CHM13v2.01323,186,689 - 23,241,917 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001159743 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273721 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273722 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273723 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273724 (Get FASTA)   NCBI Sequence Viewer  
  NP_694568 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI09291 (Get FASTA)   NCBI Sequence Viewer  
  AAI09292 (Get FASTA)   NCBI Sequence Viewer  
  BAB71009 (Get FASTA)   NCBI Sequence Viewer  
  BAB84943 (Get FASTA)   NCBI Sequence Viewer  
  BAC04977 (Get FASTA)   NCBI Sequence Viewer  
  BAD18714 (Get FASTA)   NCBI Sequence Viewer  
  BAG53856 (Get FASTA)   NCBI Sequence Viewer  
  BAG59834 (Get FASTA)   NCBI Sequence Viewer  
  BAG60873 (Get FASTA)   NCBI Sequence Viewer  
  BAG61802 (Get FASTA)   NCBI Sequence Viewer  
  BAG62740 (Get FASTA)   NCBI Sequence Viewer  
  DAA05848 (Get FASTA)   NCBI Sequence Viewer  
  EAX08331 (Get FASTA)   NCBI Sequence Viewer  
  EAX08332 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343631
  ENSP00000343631.6
  ENSP00000371527
  ENSP00000371527.4
  ENSP00000371542
  ENSP00000371542.3
  ENSP00000371576.4
  ENSP00000382830
  ENSP00000382830.2
  ENSP00000386471
  ENSP00000386471.1
  ENSP00000397498.1
  ENSP00000398560.2
  ENSP00000401605.1
  ENSP00000477296.1
  ENSP00000477304.1
GenBank Protein Q96N96 (Get FASTA)   NCBI Sequence Viewer  
  SPT35797 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_694568   ⟸   NM_153023
- Peptide Label: isoform 2
- UniProtKB: Q8N873 (UniProtKB/Swiss-Prot),   Q6ZML1 (UniProtKB/Swiss-Prot),   Q5VX68 (UniProtKB/Swiss-Prot),   J3KQH2 (UniProtKB/Swiss-Prot),   J3KPJ7 (UniProtKB/Swiss-Prot),   B4DVM8 (UniProtKB/Swiss-Prot),   B4DSZ0 (UniProtKB/Swiss-Prot),   B4DQB1 (UniProtKB/Swiss-Prot),   A6NF85 (UniProtKB/Swiss-Prot),   A2VEA9 (UniProtKB/Swiss-Prot),   Q8TEK6 (UniProtKB/Swiss-Prot),   Q96N96 (UniProtKB/Swiss-Prot),   A0A024RDM6 (UniProtKB/TrEMBL),   J3KQJ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159743   ⟸   NM_001166271
- Peptide Label: isoform 1
- UniProtKB: A0A0A0MRY4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273721   ⟸   NM_001286792
- Peptide Label: isoform 3
- UniProtKB: A0A0A0MRY4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273723   ⟸   NM_001286794
- Peptide Label: isoform 5
- UniProtKB: B4DMC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273724   ⟸   NM_001286795
- Peptide Label: isoform 6
- UniProtKB: B4DMC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273722   ⟸   NM_001286793
- Peptide Label: isoform 4
- UniProtKB: B4DMC2 (UniProtKB/TrEMBL),   E9PFR9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382830   ⟸   ENST00000399949
RefSeq Acc Id: ENSP00000398560   ⟸   ENST00000424834
RefSeq Acc Id: ENSP00000397498   ⟸   ENST00000454083
RefSeq Acc Id: ENSP00000477296   ⟸   ENST00000494772
RefSeq Acc Id: ENSP00000401605   ⟸   ENST00000434675
RefSeq Acc Id: ENSP00000386471   ⟸   ENST00000409126
RefSeq Acc Id: ENSP00000477304   ⟸   ENST00000488060
RefSeq Acc Id: ENSP00000371527   ⟸   ENST00000382095
RefSeq Acc Id: ENSP00000371542   ⟸   ENST00000382108
RefSeq Acc Id: ENSP00000371576   ⟸   ENST00000382141
RefSeq Acc Id: ENSP00000343631   ⟸   ENST00000343003
Protein Domains
DH   PH   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96N96-F1-model_v2 AlphaFold Q96N96 1-652 view protein structure

Promoters
RGD ID:6791123
Promoter ID:HG_KWN:17286
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:ENST00000360220,   NM_001166271,   NM_153023,   OTTHUMT00000335436
Position:
Human AssemblyChrPosition (strand)Source
Build 361323,632,716 - 23,633,216 (+)MPROMDB
RGD ID:6791125
Promoter ID:HG_KWN:17288
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000044181,   OTTHUMT00000335437,   OTTHUMT00000335438
Position:
Human AssemblyChrPosition (strand)Source
Build 361323,695,996 - 23,696,496 (+)MPROMDB
RGD ID:6791126
Promoter ID:HG_KWN:17289
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:OTTHUMT00000044182,   OTTHUMT00000335439
Position:
Human AssemblyChrPosition (strand)Source
Build 361323,723,491 - 23,723,991 (+)MPROMDB
RGD ID:6790830
Promoter ID:HG_KWN:17291
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000409126,   OTTHUMT00000044184,   UC001UPH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361323,742,671 - 23,743,171 (+)MPROMDB
RGD ID:6791124
Promoter ID:HG_KWN:17292
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000044183
Position:
Human AssemblyChrPosition (strand)Source
Build 361323,743,871 - 23,745,052 (+)MPROMDB
RGD ID:7226023
Promoter ID:EPDNEW_H18757
Type:initiation region
Name:SPATA13_5
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,979,526 - 23,979,586EPDNEW
RGD ID:7226025
Promoter ID:EPDNEW_H18758
Type:initiation region
Name:SPATA13_4
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,979,802 - 23,979,862EPDNEW
RGD ID:7226027
Promoter ID:EPDNEW_H18759
Type:initiation region
Name:SPATA13_7
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,995,982 - 23,996,042EPDNEW
RGD ID:7226031
Promoter ID:EPDNEW_H18760
Type:multiple initiation site
Name:SPATA13_11
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,043,094 - 24,043,154EPDNEW
RGD ID:7226029
Promoter ID:EPDNEW_H18761
Type:initiation region
Name:SPATA13_1
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,160,720 - 24,160,780EPDNEW
RGD ID:7226033
Promoter ID:EPDNEW_H18762
Type:initiation region
Name:SPATA13_3
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,251,715 - 24,251,775EPDNEW
RGD ID:7226035
Promoter ID:EPDNEW_H18763
Type:initiation region
Name:SPATA13_2
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,270,785 - 24,270,845EPDNEW
RGD ID:7226037
Promoter ID:EPDNEW_H18764
Type:multiple initiation site
Name:SPATA13_10
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18765  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,278,823 - 24,278,883EPDNEW
RGD ID:7226039
Promoter ID:EPDNEW_H18765
Type:initiation region
Name:SPATA13_8
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18766  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,297,364 - 24,297,424EPDNEW
RGD ID:7226041
Promoter ID:EPDNEW_H18766
Type:initiation region
Name:SPATA13_6
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,300,477 - 24,300,537EPDNEW
RGD ID:7226043
Promoter ID:EPDNEW_H18767
Type:initiation region
Name:SPATA13_9
Description:spermatogenesis associated 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18757  EPDNEW_H18758  EPDNEW_H18759  EPDNEW_H18761  EPDNEW_H18760  EPDNEW_H18762  EPDNEW_H18763  EPDNEW_H18764  EPDNEW_H18765  EPDNEW_H18766  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381324,306,385 - 24,306,445EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23222 AgrOrtholog
COSMIC SPATA13 COSMIC
Ensembl Genes ENSG00000182957 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000228741 Ensembl
  ENSG00000273167 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343003 ENTREZGENE
  ENST00000343003.10 UniProtKB/Swiss-Prot
  ENST00000382095 ENTREZGENE
  ENST00000382095.8 UniProtKB/Swiss-Prot
  ENST00000382108 ENTREZGENE
  ENST00000382108.8 UniProtKB/Swiss-Prot
  ENST00000382141.4 UniProtKB/TrEMBL
  ENST00000399949 ENTREZGENE
  ENST00000399949.6 UniProtKB/Swiss-Prot
  ENST00000409126 ENTREZGENE
  ENST00000409126.5 UniProtKB/TrEMBL
  ENST00000424834.6 UniProtKB/Swiss-Prot
  ENST00000434675.5 UniProtKB/TrEMBL
  ENST00000454083.1 UniProtKB/TrEMBL
  ENST00000488060.1 UniProtKB/TrEMBL
  ENST00000494772.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182957 GTEx
  ENSG00000228741 GTEx
  ENSG00000273167 GTEx
HGNC ID HGNC:23222 ENTREZGENE
Human Proteome Map SPATA13 Human Proteome Map
InterPro DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:221178 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 221178 ENTREZGENE
OMIM 613324 OMIM
PANTHER RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134912609 PharmGKB
PRINTS SH3DOMAIN UniProtKB/TrEMBL
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RDM6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MRY4 ENTREZGENE, UniProtKB/TrEMBL
  A2VEA9 ENTREZGENE
  A6NF85 ENTREZGENE
  B4DMC2 ENTREZGENE, UniProtKB/TrEMBL
  B4DQB1 ENTREZGENE
  B4DSZ0 ENTREZGENE
  B4DVM8 ENTREZGENE
  E9PFR9 ENTREZGENE, UniProtKB/TrEMBL
  J3KPJ7 ENTREZGENE
  J3KQH2 ENTREZGENE
  J3KQJ8 ENTREZGENE, UniProtKB/TrEMBL
  Q5VX67_HUMAN UniProtKB/TrEMBL
  Q5VX68 ENTREZGENE
  Q6ZML1 ENTREZGENE
  Q8N873 ENTREZGENE
  Q8TEK6 ENTREZGENE
  Q96N96 ENTREZGENE, UniProtKB/Swiss-Prot
  V9GZ16_HUMAN UniProtKB/TrEMBL
UniProt Secondary A2VEA9 UniProtKB/Swiss-Prot
  A6NF85 UniProtKB/Swiss-Prot
  B4DQB1 UniProtKB/Swiss-Prot
  B4DSZ0 UniProtKB/Swiss-Prot
  B4DVM8 UniProtKB/Swiss-Prot
  J3KPJ7 UniProtKB/Swiss-Prot
  J3KQH2 UniProtKB/Swiss-Prot
  Q5VX68 UniProtKB/Swiss-Prot
  Q6ZML1 UniProtKB/Swiss-Prot
  Q8N873 UniProtKB/Swiss-Prot
  Q8TEK6 UniProtKB/Swiss-Prot