SPATA20 (spermatogenesis associated 20) - Rat Genome Database

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Gene: SPATA20 (spermatogenesis associated 20) Homo sapiens
Analyze
Symbol: SPATA20
Name: spermatogenesis associated 20
RGD ID: 1603970
HGNC Page HGNC:26125
Description: Predicted to be involved in carbohydrate metabolic process; cell differentiation; and spermatogenesis. Located in mitochondrion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp686H1839; epididymis secretory protein Li 98; FLJ21347; FLJ21969; HEL-S-98; MGC111032; sperm protein SSP411; sperm-specific protein 411; spermatogenesis-associated protein 20; SSP411; Tisp78; transcript increased in spermiogenesis 78
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SPATA20P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,547,174 - 50,555,852 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,543,058 - 50,555,852 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,624,535 - 48,633,213 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,979,561 - 45,988,212 (+)NCBINCBI36Build 36hg18NCBI36
Celera1745,085,923 - 45,094,575 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,992,401 - 44,001,164 (+)NCBIHuRef
CHM1_11748,688,330 - 48,697,090 (+)NCBICHM1_1
T2T-CHM13v2.01751,414,308 - 51,422,988 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15223837   PMID:15231747   PMID:15489334   PMID:16341674   PMID:16344560   PMID:21988832   PMID:23118872   PMID:26186194   PMID:26344197  
PMID:27499296   PMID:28514442   PMID:28986522   PMID:30581152   PMID:31536960   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34800366   PMID:35748872   PMID:36215168   PMID:36415156  


Genomics

Comparative Map Data
SPATA20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,547,174 - 50,555,852 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,543,058 - 50,555,852 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,624,535 - 48,633,213 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,979,561 - 45,988,212 (+)NCBINCBI36Build 36hg18NCBI36
Celera1745,085,923 - 45,094,575 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,992,401 - 44,001,164 (+)NCBIHuRef
CHM1_11748,688,330 - 48,697,090 (+)NCBICHM1_1
T2T-CHM13v2.01751,414,308 - 51,422,988 (+)NCBIT2T-CHM13v2.0
Spata20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,369,730 - 94,376,136 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1194,369,730 - 94,377,005 (-)EnsemblGRCm39 Ensembl
GRCm381194,478,904 - 94,485,310 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,478,904 - 94,486,179 (-)EnsemblGRCm38mm10GRCm38
MGSCv371194,340,218 - 94,346,624 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361194,294,995 - 94,301,400 (-)NCBIMGSCv36mm8
Celera11104,099,270 - 104,105,659 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1158.9NCBI
Spata20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81079,924,407 - 79,932,351 (-)NCBIGRCr8
mRatBN7.21079,427,525 - 79,435,472 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1079,427,528 - 79,434,368 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1084,032,276 - 84,039,012 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01083,530,398 - 83,537,134 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01079,045,196 - 79,051,936 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01082,202,619 - 82,217,260 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,202,605 - 82,209,459 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01082,022,656 - 82,037,103 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41083,117,661 - 83,124,501 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11083,132,030 - 83,138,871 (-)NCBI
Celera1078,216,748 - 78,223,588 (-)NCBICelera
Cytogenetic Map10q26NCBI
Spata20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,199,276 - 11,205,891 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,199,115 - 11,205,978 (-)NCBIChiLan1.0ChiLan1.0
SPATA20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21966,738,316 - 66,747,076 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11771,545,503 - 71,554,246 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01744,640,916 - 44,649,684 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11749,514,984 - 49,523,788 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,514,990 - 49,523,788 (+)Ensemblpanpan1.1panPan2
SPATA20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,468,931 - 26,476,218 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,468,208 - 26,476,211 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,861,614 - 25,868,823 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0927,263,122 - 27,270,307 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl927,262,253 - 27,270,300 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1926,030,854 - 26,038,044 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0926,289,454 - 26,296,662 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0926,419,626 - 26,426,811 (+)NCBIUU_Cfam_GSD_1.0
Spata20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560225,904,215 - 25,912,635 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649011,162,339 - 11,170,905 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649011,162,504 - 11,170,862 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPATA20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,828,711 - 26,838,882 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,828,688 - 26,838,512 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21226,969,094 - 26,979,011 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPATA20
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11642,781,868 - 42,790,754 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1642,780,944 - 42,789,872 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607713,498,325 - 13,507,187 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Spata20
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247956,431,599 - 6,438,452 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247956,430,312 - 6,438,631 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SPATA20
70 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_022827.4(SPATA20):c.1291C>T (p.Pro431Ser) single nucleotide variant not specified [RCV004324659] Chr17:50550825 [GRCh38]
Chr17:48628186 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.532G>A (p.Gly178Arg) single nucleotide variant not specified [RCV004331078] Chr17:50549058 [GRCh38]
Chr17:48626419 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1234A>G (p.Lys412Glu) single nucleotide variant not specified [RCV004313264] Chr17:50550768 [GRCh38]
Chr17:48628129 [GRCh37]
Chr17:17q21.33		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_022827.4(SPATA20):c.2368A>G (p.Ile790Val) single nucleotide variant not specified [RCV004300424] Chr17:50555621 [GRCh38]
Chr17:48632982 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1832C>T (p.Ala611Val) single nucleotide variant not specified [RCV004212982] Chr17:50552055 [GRCh38]
Chr17:48629416 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1018C>T (p.Arg340Cys) single nucleotide variant not specified [RCV004193916] Chr17:50550232 [GRCh38]
Chr17:48627593 [GRCh37]
Chr17:17q21.33		 likely benign
NM_022827.4(SPATA20):c.971G>A (p.Gly324Asp) single nucleotide variant not specified [RCV004238386] Chr17:50550093 [GRCh38]
Chr17:48627454 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1633A>G (p.Ile545Val) single nucleotide variant not specified [RCV004104174] Chr17:50551567 [GRCh38]
Chr17:48628928 [GRCh37]
Chr17:17q21.33		 likely benign
NM_022827.4(SPATA20):c.13C>T (p.Arg5Trp) single nucleotide variant not specified [RCV004186224] Chr17:50547221 [GRCh38]
Chr17:48624582 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.14G>C (p.Arg5Pro) single nucleotide variant not specified [RCV004186115] Chr17:50547222 [GRCh38]
Chr17:48624583 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1697G>A (p.Arg566His) single nucleotide variant not specified [RCV004137379] Chr17:50551631 [GRCh38]
Chr17:48628992 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1865C>T (p.Thr622Ile) single nucleotide variant not specified [RCV004143323] Chr17:50552088 [GRCh38]
Chr17:48629449 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1493A>G (p.Asn498Ser) single nucleotide variant not specified [RCV004178250] Chr17:50551107 [GRCh38]
Chr17:48628468 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1815G>C (p.Glu605Asp) single nucleotide variant not specified [RCV004233272] Chr17:50552038 [GRCh38]
Chr17:48629399 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.281A>G (p.Tyr94Cys) single nucleotide variant not specified [RCV004199315] Chr17:50548438 [GRCh38]
Chr17:48625799 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.368A>G (p.Tyr123Cys) single nucleotide variant not specified [RCV004205317] Chr17:50548816 [GRCh38]
Chr17:48626177 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1919C>T (p.Ala640Val) single nucleotide variant not specified [RCV004183707] Chr17:50552142 [GRCh38]
Chr17:48629503 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1670G>A (p.Arg557Gln) single nucleotide variant not specified [RCV004224518] Chr17:50551604 [GRCh38]
Chr17:48628965 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.249C>G (p.His83Gln) single nucleotide variant not specified [RCV004187613] Chr17:50548406 [GRCh38]
Chr17:48625767 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1427G>A (p.Arg476Gln) single nucleotide variant not specified [RCV004218293] Chr17:50551041 [GRCh38]
Chr17:48628402 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1552A>G (p.Ser518Gly) single nucleotide variant not specified [RCV004105539] Chr17:50551166 [GRCh38]
Chr17:48628527 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1727G>T (p.Gly576Val) single nucleotide variant not specified [RCV004107982] Chr17:50551661 [GRCh38]
Chr17:48629022 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.155G>A (p.Ser52Asn) single nucleotide variant not specified [RCV004208184] Chr17:50548312 [GRCh38]
Chr17:48625673 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1823A>T (p.Gln608Leu) single nucleotide variant not specified [RCV004075721] Chr17:50552046 [GRCh38]
Chr17:48629407 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.785G>A (p.Arg262His) single nucleotide variant not specified [RCV004238696] Chr17:50549410 [GRCh38]
Chr17:48626771 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.425T>C (p.Ile142Thr) single nucleotide variant not specified [RCV004092333] Chr17:50548873 [GRCh38]
Chr17:48626234 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.742G>A (p.Gly248Ser) single nucleotide variant not specified [RCV004092335] Chr17:50549367 [GRCh38]
Chr17:48626728 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2099C>T (p.Pro700Leu) single nucleotide variant not specified [RCV004194602] Chr17:50554392 [GRCh38]
Chr17:48631753 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1946G>A (p.Arg649His) single nucleotide variant not specified [RCV004173842] Chr17:50552169 [GRCh38]
Chr17:48629530 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2219C>T (p.Ser740Phe) single nucleotide variant not specified [RCV004096307] Chr17:50555293 [GRCh38]
Chr17:48632654 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.430C>T (p.Arg144Cys) single nucleotide variant not specified [RCV004216737] Chr17:50548878 [GRCh38]
Chr17:48626239 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2161G>A (p.Val721Met) single nucleotide variant not specified [RCV004271802] Chr17:50555235 [GRCh38]
Chr17:48632596 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.725G>A (p.Arg242Gln) single nucleotide variant not specified [RCV004263234] Chr17:50549350 [GRCh38]
Chr17:48626711 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1156C>T (p.Arg386Trp) single nucleotide variant not specified [RCV004249833] Chr17:50550593 [GRCh38]
Chr17:48627954 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.248A>G (p.His83Arg) single nucleotide variant not specified [RCV004254135] Chr17:50548405 [GRCh38]
Chr17:48625766 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1226A>G (p.Gln409Arg) single nucleotide variant not specified [RCV004342925] Chr17:50550760 [GRCh38]
Chr17:48628121 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.479G>A (p.Arg160Gln) single nucleotide variant not specified [RCV004356945] Chr17:50548927 [GRCh38]
Chr17:48626288 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.769G>A (p.Ala257Thr) single nucleotide variant not specified [RCV004338835] Chr17:50549394 [GRCh38]
Chr17:48626755 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2383G>A (p.Glu795Lys) single nucleotide variant not specified [RCV004339058] Chr17:50555636 [GRCh38]
Chr17:48632997 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.922C>T (p.Arg308Trp) single nucleotide variant not specified [RCV004357732] Chr17:50550044 [GRCh38]
Chr17:48627405 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.701G>A (p.Arg234His) single nucleotide variant not specified [RCV004358736] Chr17:50549326 [GRCh38]
Chr17:48626687 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.283A>G (p.Asn95Asp) single nucleotide variant not provided [RCV003413262] Chr17:50548440 [GRCh38]
Chr17:48625801 [GRCh37]
Chr17:17q21.33		 likely benign
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic
NM_022827.4(SPATA20):c.2090G>A (p.Arg697His) single nucleotide variant not specified [RCV004460169] Chr17:50554383 [GRCh38]
Chr17:48631744 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.511G>A (p.Val171Met) single nucleotide variant not specified [RCV004460178] Chr17:50548959 [GRCh38]
Chr17:48626320 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.917G>C (p.Gly306Ala) single nucleotide variant not specified [RCV004460180] Chr17:50550039 [GRCh38]
Chr17:48627400 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.925G>T (p.Ala309Ser) single nucleotide variant not specified [RCV004460181] Chr17:50550047 [GRCh38]
Chr17:48627408 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.985G>A (p.Val329Met) single nucleotide variant not specified [RCV004460182] Chr17:50550107 [GRCh38]
Chr17:48627468 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1243G>A (p.Ala415Thr) single nucleotide variant not specified [RCV004460161] Chr17:50550777 [GRCh38]
Chr17:48628138 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1649A>G (p.Asn550Ser) single nucleotide variant not specified [RCV004460165] Chr17:50551583 [GRCh38]
Chr17:48628944 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1706G>A (p.Arg569Gln) single nucleotide variant not specified [RCV004460166] Chr17:50551640 [GRCh38]
Chr17:48629001 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2089C>G (p.Arg697Gly) single nucleotide variant not specified [RCV004460168] Chr17:50554382 [GRCh38]
Chr17:48631743 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2125G>A (p.Ala709Thr) single nucleotide variant not specified [RCV004460170] Chr17:50554418 [GRCh38]
Chr17:48631779 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.34C>T (p.Leu12Phe) single nucleotide variant not specified [RCV004460177] Chr17:50547242 [GRCh38]
Chr17:48624603 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.860C>T (p.Pro287Leu) single nucleotide variant not specified [RCV004460179] Chr17:50549485 [GRCh38]
Chr17:48626846 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1192G>A (p.Ala398Thr) single nucleotide variant not specified [RCV004460160] Chr17:50550726 [GRCh38]
Chr17:48628087 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1286C>T (p.Pro429Leu) single nucleotide variant not specified [RCV004460162] Chr17:50550820 [GRCh38]
Chr17:48628181 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1331T>G (p.Leu444Arg) single nucleotide variant not specified [RCV004460163] Chr17:50550865 [GRCh38]
Chr17:48628226 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1423G>C (p.Val475Leu) single nucleotide variant not specified [RCV004460164] Chr17:50551037 [GRCh38]
Chr17:48628398 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1793G>A (p.Arg598Gln) single nucleotide variant not specified [RCV004460167] Chr17:50552016 [GRCh38]
Chr17:48629377 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2144A>G (p.Gln715Arg) single nucleotide variant not specified [RCV004460171] Chr17:50554437 [GRCh38]
Chr17:48631798 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2158A>G (p.Ile720Val) single nucleotide variant not specified [RCV004460172] Chr17:50555232 [GRCh38]
Chr17:48632593 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.233C>T (p.Pro78Leu) single nucleotide variant not specified [RCV004460173] Chr17:50548390 [GRCh38]
Chr17:48625751 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2344G>A (p.Glu782Lys) single nucleotide variant not specified [RCV004460174] Chr17:50555597 [GRCh38]
Chr17:48632958 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2390G>A (p.Arg797Gln) single nucleotide variant not specified [RCV004460175] Chr17:50555643 [GRCh38]
Chr17:48633004 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.23T>C (p.Leu8Ser) single nucleotide variant not specified [RCV004460176] Chr17:50547231 [GRCh38]
Chr17:48624592 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.238C>T (p.Arg80Cys) single nucleotide variant not specified [RCV004672803] Chr17:50548395 [GRCh38]
Chr17:48625756 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1981G>T (p.Ala661Ser) single nucleotide variant not specified [RCV004672805] Chr17:50554274 [GRCh38]
Chr17:48631635 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.802G>C (p.Asp268His) single nucleotide variant not specified [RCV004672806] Chr17:50549427 [GRCh38]
Chr17:48626788 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1072G>A (p.Ala358Thr) single nucleotide variant not specified [RCV004679284] Chr17:50550286 [GRCh38]
Chr17:48627647 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.523A>G (p.Ser175Gly) single nucleotide variant not specified [RCV004679285] Chr17:50549049 [GRCh38]
Chr17:48626410 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.2212G>A (p.Val738Ile) single nucleotide variant not specified [RCV004679286] Chr17:50555286 [GRCh38]
Chr17:48632647 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.809G>T (p.Gly270Val) single nucleotide variant not specified [RCV004672801] Chr17:50549434 [GRCh38]
Chr17:48626795 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1316T>C (p.Leu439Pro) single nucleotide variant not specified [RCV004672804] Chr17:50550850 [GRCh38]
Chr17:48628211 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_022827.4(SPATA20):c.1541C>A (p.Pro514Gln) single nucleotide variant not specified [RCV004672802] Chr17:50551155 [GRCh38]
Chr17:48628516 [GRCh37]
Chr17:17q21.33		 uncertain significance
Single allele deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] Chr17:41231503..41277589 [GRCh37]
Chr17:17q21.31-22		 pathogenic
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11764
Count of miRNA genes:1224
Interacting mature miRNAs:1618
Transcripts:ENST00000006658, ENST00000356488, ENST00000393244, ENST00000502911, ENST00000503063, ENST00000503127, ENST00000504265, ENST00000504271, ENST00000504334, ENST00000505085, ENST00000505336, ENST00000505456, ENST00000505559, ENST00000505656, ENST00000508528, ENST00000508598, ENST00000510917, ENST00000511347, ENST00000511605, ENST00000511845, ENST00000511937, ENST00000512181, ENST00000512416, ENST00000513618, ENST00000515526, ENST00000515619
Prediction methods:Microtar, Miranda, Pita, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407228006GWAS876982_Hbone density QTL GWAS876982 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)175054888150548882Human
407217201GWAS866177_Hsex hormone-binding globulin measurement QTL GWAS866177 (human)2e-09sex hormone-binding globulin measurement175054902850549029Human
407327411GWAS976387_Hglomerular filtration rate QTL GWAS976387 (human)3e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)175055494950554950Human
406972676GWAS621652_Hspermatogenesis-associated protein 20 measurement QTL GWAS621652 (human)3e-926spermatogenesis-associated protein 20 measurement175054856750548568Human
407362113GWAS1011089_Hcreatinine measurement QTL GWAS1011089 (human)3e-10creatinine measurementblood creatinine measurement (CMO:0000767)175055110950551110Human
406939769GWAS588745_Hheel bone mineral density QTL GWAS588745 (human)2e-11heel bone mineral densitybone mineral density (CMO:0001226)175055309150553092Human
407234056GWAS883032_Hblood protein measurement QTL GWAS883032 (human)8e-149blood protein measurementblood protein measurement (CMO:0000028)175054856750548568Human
407219880GWAS868856_Hsex hormone-binding globulin measurement QTL GWAS868856 (human)2e-10sex hormone-binding globulin measurement175054902850549029Human
407316857GWAS965833_Hglycerophospholipid measurement QTL GWAS965833 (human)8e-09glycerophospholipid measurement175054971850549719Human

Markers in Region
RH12494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,632,979 - 48,633,114UniSTSGRCh37
Build 361745,987,978 - 45,988,113RGDNCBI36
Celera1745,094,341 - 45,094,476RGD
Cytogenetic Map17q21.33UniSTS
HuRef1744,000,930 - 44,001,065UniSTS
GeneMap99-GB4 RH Map17347.21UniSTS
NCBI RH Map17604.8UniSTS
G31146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,632,988 - 48,633,115UniSTSGRCh37
Build 361745,987,987 - 45,988,114RGDNCBI36
Celera1745,094,350 - 45,094,477RGD
Cytogenetic Map17q21.33UniSTS
HuRef1744,000,939 - 44,001,066UniSTS
MARC_11627-11628:1002815904:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,626,787 - 48,627,439UniSTSGRCh37
Build 361745,981,786 - 45,982,438RGDNCBI36
Celera1745,088,148 - 45,088,800RGD
HuRef1743,994,738 - 43,995,390UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1947 465 2270 7302 6468 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001258372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM787432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA295930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA489234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ238597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ806761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000006658   ⟹   ENSP00000006658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,174 - 50,555,852 (+)Ensembl
Ensembl Acc Id: ENST00000356488   ⟹   ENSP00000348878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,126 - 50,555,852 (+)Ensembl
Ensembl Acc Id: ENST00000502911   ⟹   ENSP00000422378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,153 - 50,549,329 (+)Ensembl
Ensembl Acc Id: ENST00000503063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,013 - 50,555,852 (+)Ensembl
Ensembl Acc Id: ENST00000503127   ⟹   ENSP00000426228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,127 - 50,555,850 (+)Ensembl
Ensembl Acc Id: ENST00000504265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,550,108 - 50,551,384 (+)Ensembl
Ensembl Acc Id: ENST00000504271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,550,734 - 50,551,939 (+)Ensembl
Ensembl Acc Id: ENST00000504334   ⟹   ENSP00000424215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,543,058 - 50,555,850 (+)Ensembl
Ensembl Acc Id: ENST00000505085   ⟹   ENSP00000427374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,129 - 50,548,618 (+)Ensembl
Ensembl Acc Id: ENST00000505336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,060 - 50,548,814 (+)Ensembl
Ensembl Acc Id: ENST00000505456   ⟹   ENSP00000426608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,184 - 50,549,304 (+)Ensembl
Ensembl Acc Id: ENST00000505559   ⟹   ENSP00000426025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,205 - 50,550,891 (+)Ensembl
Ensembl Acc Id: ENST00000505656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,883 - 50,550,851 (+)Ensembl
Ensembl Acc Id: ENST00000508528   ⟹   ENSP00000425271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,550,272 - 50,551,985 (+)Ensembl
Ensembl Acc Id: ENST00000508598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,205 - 50,548,581 (+)Ensembl
Ensembl Acc Id: ENST00000510917   ⟹   ENSP00000423643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,161 - 50,548,863 (+)Ensembl
Ensembl Acc Id: ENST00000511347   ⟹   ENSP00000424538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,850 - 50,551,072 (+)Ensembl
Ensembl Acc Id: ENST00000511605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,180 - 50,548,172 (+)Ensembl
Ensembl Acc Id: ENST00000511845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,209 - 50,548,902 (+)Ensembl
Ensembl Acc Id: ENST00000511937   ⟹   ENSP00000489476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,999 - 50,555,852 (+)Ensembl
Ensembl Acc Id: ENST00000512181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,019 - 50,550,802 (+)Ensembl
Ensembl Acc Id: ENST00000512416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,076 - 50,549,409 (+)Ensembl
Ensembl Acc Id: ENST00000513618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,550,400 - 50,551,108 (+)Ensembl
Ensembl Acc Id: ENST00000515526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,209 - 50,548,703 (+)Ensembl
Ensembl Acc Id: ENST00000515619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,550,212 - 50,551,669 (+)Ensembl
Ensembl Acc Id: ENST00000619622   ⟹   ENSP00000483295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,547,089 - 50,555,850 (+)Ensembl
Ensembl Acc Id: ENST00000634597   ⟹   ENSP00000489591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,049 - 50,555,852 (+)Ensembl
Ensembl Acc Id: ENST00000635113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,548,073 - 50,551,356 (+)Ensembl
RefSeq Acc Id: NM_001258372   ⟹   NP_001245301
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,547,174 - 50,555,852 (+)NCBI
GRCh371748,624,450 - 48,633,213 (+)NCBI
HuRef1743,992,401 - 44,001,164 (+)NCBI
CHM1_11748,688,330 - 48,697,090 (+)NCBI
T2T-CHM13v2.01751,414,308 - 51,422,988 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258373   ⟹   NP_001245302
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,547,174 - 50,555,852 (+)NCBI
GRCh371748,624,450 - 48,633,213 (+)NCBI
HuRef1743,992,401 - 44,001,164 (+)NCBI
CHM1_11748,688,330 - 48,697,090 (+)NCBI
T2T-CHM13v2.01751,414,308 - 51,422,988 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022827   ⟹   NP_073738
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,547,174 - 50,555,852 (+)NCBI
GRCh371748,624,450 - 48,633,213 (+)NCBI
Build 361745,979,561 - 45,988,212 (+)NCBI Archive
Celera1745,085,923 - 45,094,575 (+)RGD
HuRef1743,992,401 - 44,001,164 (+)NCBI
CHM1_11748,688,330 - 48,697,090 (+)NCBI
T2T-CHM13v2.01751,414,308 - 51,422,988 (+)NCBI
Sequence:
RefSeq Acc Id: NP_073738   ⟸   NM_022827
- Peptide Label: isoform 1 precursor
- UniProtKB: A0A0K0K1J9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245302   ⟸   NM_001258373
- Peptide Label: isoform 3
- UniProtKB: A8K6Z0 (UniProtKB/TrEMBL),   B3KS41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245301   ⟸   NM_001258372
- Peptide Label: isoform 2 precursor
- UniProtKB: Q8WVW3 (UniProtKB/Swiss-Prot),   Q6P0P1 (UniProtKB/Swiss-Prot),   Q2XUZ6 (UniProtKB/Swiss-Prot),   Q2TA99 (UniProtKB/Swiss-Prot),   Q9H747 (UniProtKB/Swiss-Prot),   Q8TB22 (UniProtKB/Swiss-Prot),   A0A0K0K1J9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000422378   ⟸   ENST00000502911
Ensembl Acc Id: ENSP00000489591   ⟸   ENST00000634597
Ensembl Acc Id: ENSP00000426228   ⟸   ENST00000503127
Ensembl Acc Id: ENSP00000424215   ⟸   ENST00000504334
Ensembl Acc Id: ENSP00000426025   ⟸   ENST00000505559
Ensembl Acc Id: ENSP00000426608   ⟸   ENST00000505456
Ensembl Acc Id: ENSP00000427374   ⟸   ENST00000505085
Ensembl Acc Id: ENSP00000006658   ⟸   ENST00000006658
Ensembl Acc Id: ENSP00000425271   ⟸   ENST00000508528
Ensembl Acc Id: ENSP00000423643   ⟸   ENST00000510917
Ensembl Acc Id: ENSP00000424538   ⟸   ENST00000511347
Ensembl Acc Id: ENSP00000489476   ⟸   ENST00000511937
Ensembl Acc Id: ENSP00000483295   ⟸   ENST00000619622
Ensembl Acc Id: ENSP00000348878   ⟸   ENST00000356488
Protein Domains
DUF255

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TB22-F1-model_v2 AlphaFold Q8TB22 1-786 view protein structure

Promoters
RGD ID:6794569
Promoter ID:HG_KWN:26587
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002IRD.1,   UC002IRE.1,   UC002IRF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,979,326 - 45,979,826 (+)MPROMDB
RGD ID:7235657
Promoter ID:EPDNEW_H23574
Type:initiation region
Name:SPATA20_1
Description:spermatogenesis associated 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23575  EPDNEW_H23576  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,547,174 - 50,547,234EPDNEW
RGD ID:7235659
Promoter ID:EPDNEW_H23575
Type:initiation region
Name:SPATA20_2
Description:spermatogenesis associated 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23574  EPDNEW_H23576  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,547,904 - 50,547,964EPDNEW
RGD ID:7235661
Promoter ID:EPDNEW_H23576
Type:initiation region
Name:SPATA20_3
Description:spermatogenesis associated 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23574  EPDNEW_H23575  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,548,020 - 50,548,080EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26125 AgrOrtholog
COSMIC SPATA20 COSMIC
Ensembl Genes ENSG00000006282 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000006658 ENTREZGENE
  ENST00000006658.11 UniProtKB/Swiss-Prot
  ENST00000356488 ENTREZGENE
  ENST00000356488.8 UniProtKB/Swiss-Prot
  ENST00000502911.5 UniProtKB/TrEMBL
  ENST00000503127.5 UniProtKB/TrEMBL
  ENST00000504334.5 UniProtKB/TrEMBL
  ENST00000505085.5 UniProtKB/TrEMBL
  ENST00000505456.6 UniProtKB/TrEMBL
  ENST00000505559.5 UniProtKB/TrEMBL
  ENST00000508528.1 UniProtKB/TrEMBL
  ENST00000510917.5 UniProtKB/TrEMBL
  ENST00000511347.5 UniProtKB/TrEMBL
  ENST00000511937.5 UniProtKB/Swiss-Prot
  ENST00000634597.1 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000006282 GTEx
HGNC ID HGNC:26125 ENTREZGENE
Human Proteome Map SPATA20 Human Proteome Map
InterPro 6-hairpin_glycosidase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6hp_glycosidase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ssp411 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64847 UniProtKB/Swiss-Prot
NCBI Gene 64847 ENTREZGENE
OMIM 613939 OMIM
PANTHER PTHR42899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPERMATOGENESIS-ASSOCIATED PROTEIN 20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Thioredox_DsbH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670885 PharmGKB
PIRSF UCP006402_thioredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48208 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0K0K1J9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RRL8_HUMAN UniProtKB/TrEMBL
  A8K6Z0 ENTREZGENE, UniProtKB/TrEMBL
  B3KS41 ENTREZGENE, UniProtKB/TrEMBL
  D6R947_HUMAN UniProtKB/TrEMBL
  D6RC70_HUMAN UniProtKB/TrEMBL
  D6RIU6_HUMAN UniProtKB/TrEMBL
  H0Y9M1_HUMAN UniProtKB/TrEMBL
  H0Y9W3_HUMAN UniProtKB/TrEMBL
  Q2TA99 ENTREZGENE
  Q2XUZ6 ENTREZGENE
  Q6P0P1 ENTREZGENE
  Q8TB22 ENTREZGENE
  Q8WVW3 ENTREZGENE
  Q9H747 ENTREZGENE
  SPT20_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D6RBE2 UniProtKB/TrEMBL
  Q2TA99 UniProtKB/Swiss-Prot
  Q2XUZ6 UniProtKB/Swiss-Prot
  Q6P0P1 UniProtKB/Swiss-Prot
  Q8WVW3 UniProtKB/Swiss-Prot
  Q9H747 UniProtKB/Swiss-Prot