SPATA31A3 (SPATA31 subfamily A member 3) - Rat Genome Database

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Gene: SPATA31A3 (SPATA31 subfamily A member 3) Homo sapiens
Analyze
Symbol: SPATA31A3
Name: SPATA31 subfamily A member 3
RGD ID: 1603719
HGNC Page HGNC:32003
Description: Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp434B204; FAM75A3; family with sequence similarity 75, member A3; hypothetical protein LOC727830; MGC181958; SPATA31 subfamily A, member 3; spermatogenesis-associated protein 31A3
RGD Orthologs
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38966,986,304 - 66,992,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl966,986,304 - 66,992,550 (-)EnsemblGRCh38hg38GRCh38
GRCh37940,700,291 - 40,706,537 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36940,690,291 - 40,696,537 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map9q21.11NCBI
CHM1_1940,712,058 - 40,718,319 (+)NCBICHM1_1
T2T-CHM13v2.0978,758,409 - 78,764,650 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
membrane  (IEA)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:20850414   PMID:25331947   PMID:31033124   PMID:34373451  


Genomics

Comparative Map Data
SPATA31A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38966,986,304 - 66,992,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl966,986,304 - 66,992,550 (-)EnsemblGRCh38hg38GRCh38
GRCh37940,700,291 - 40,706,537 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36940,690,291 - 40,696,537 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map9q21.11NCBI
CHM1_1940,712,058 - 40,718,319 (+)NCBICHM1_1
T2T-CHM13v2.0978,758,409 - 78,764,650 (-)NCBIT2T-CHM13v2.0
LOC103219801
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112105,477,942 - 105,484,768 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603893,802,061 - 93,808,264 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SPATA31A3
99 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001083124.1(SPATA31A3):c.540C>T (p.Ser180=) single nucleotide variant Malignant melanoma [RCV000061948] Chr9:66989958 [GRCh38]
Chr9:40702883 [GRCh37]
Chr9:40692883 [NCBI36]
Chr9:9q21.11		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p13.3-q21.11(chr9:41747162-67217006)x3 copy number gain See cases [RCV000137784] Chr9:41747162..67217006 [GRCh38]
Chr9:33333162..71534501 [GRCh37]
Chr9:33323162..70724321 [NCBI36]
Chr9:9p13.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q12-21.11(chr9:61053889-67217006)x1 copy number loss See cases [RCV000141597] Chr9:61053889..67217006 [GRCh38]
Chr9:39140222..40940341 [GRCh37]
Chr9:39130222..40955573 [NCBI36]
Chr9:9q12-21.11		 benign
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001083124.1(SPATA31A3):c.911G>A (p.Arg304His) single nucleotide variant not specified [RCV004313664] Chr9:66989587 [GRCh38]
Chr9:40703254 [GRCh37]
Chr9:9q21.11		 likely benign
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NM_001083124.1(SPATA31A3):c.527C>A (p.Thr176Asn) single nucleotide variant not specified [RCV004302740] Chr9:66989971 [GRCh38]
Chr9:40702870 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.213G>T (p.Arg71Ser) single nucleotide variant not specified [RCV004323049] Chr9:66991108 [GRCh38]
Chr9:40701733 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3632C>T (p.Thr1211Met) single nucleotide variant not specified [RCV004291687] Chr9:66986866 [GRCh38]
Chr9:40705975 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p13.1-12(chr9:40604766-41565726)x1 copy number loss not provided [RCV000748413] Chr9:40604766..41565726 [GRCh37]
Chr9:9p13.1-12		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001083124.1(SPATA31A3):c.3200G>A (p.Arg1067Gln) single nucleotide variant not specified [RCV004282044] Chr9:66987298 [GRCh38]
Chr9:40705543 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.2102T>C (p.Leu701Ser) single nucleotide variant not specified [RCV004293946] Chr9:66988396 [GRCh38]
Chr9:40704445 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.2878G>C (p.Val960Leu) single nucleotide variant not specified [RCV004291101] Chr9:66987620 [GRCh38]
Chr9:40705221 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1 copy number loss Neurodevelopmental disorder [RCV001580193] Chr9:36442195..39156958 [GRCh37]
Chr9:9p13.2-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001083124.1(SPATA31A3):c.3705C>G (p.His1235Gln) single nucleotide variant not specified [RCV004297279] Chr9:66986793 [GRCh38]
Chr9:40706048 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001083124.1(SPATA31A3):c.3853A>G (p.Ile1285Val) single nucleotide variant not specified [RCV004141723] Chr9:66986645 [GRCh38]
Chr9:40706196 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.1042G>A (p.Gly348Arg) single nucleotide variant not specified [RCV004078651] Chr9:66989456 [GRCh38]
Chr9:40703385 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.325C>T (p.Leu109Phe) single nucleotide variant not specified [RCV004139131] Chr9:66990173 [GRCh38]
Chr9:40702668 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2971C>T (p.His991Tyr) single nucleotide variant not specified [RCV004127894] Chr9:66987527 [GRCh38]
Chr9:40705314 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.577C>G (p.Leu193Val) single nucleotide variant not specified [RCV004192325] Chr9:66989921 [GRCh38]
Chr9:40702920 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2327C>T (p.Pro776Leu) single nucleotide variant not specified [RCV004147318] Chr9:66988171 [GRCh38]
Chr9:40704670 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.2226C>G (p.Asn742Lys) single nucleotide variant not specified [RCV004240196] Chr9:66988272 [GRCh38]
Chr9:40704569 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2917A>G (p.Thr973Ala) single nucleotide variant not specified [RCV004100856] Chr9:66987581 [GRCh38]
Chr9:40705260 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2891C>T (p.Thr964Ile) single nucleotide variant not specified [RCV004183946] Chr9:66987607 [GRCh38]
Chr9:40705234 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1442C>A (p.Pro481His) single nucleotide variant not specified [RCV004138872] Chr9:66989056 [GRCh38]
Chr9:40703785 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.335G>T (p.Gly112Val) single nucleotide variant not specified [RCV004182373] Chr9:66990163 [GRCh38]
Chr9:40702678 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2738C>T (p.Pro913Leu) single nucleotide variant not specified [RCV004184462] Chr9:66987760 [GRCh38]
Chr9:40705081 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3060G>C (p.Lys1020Asn) single nucleotide variant not specified [RCV004188411] Chr9:66987438 [GRCh38]
Chr9:40705403 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3270A>C (p.Lys1090Asn) single nucleotide variant not specified [RCV004188412] Chr9:66987228 [GRCh38]
Chr9:40705613 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.310C>T (p.Leu104Phe) single nucleotide variant not specified [RCV004197101] Chr9:66990188 [GRCh38]
Chr9:40702653 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.343G>T (p.Gly115Cys) single nucleotide variant not specified [RCV004107395] Chr9:66990155 [GRCh38]
Chr9:40702686 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2374C>G (p.Leu792Val) single nucleotide variant not specified [RCV004138730] Chr9:66988124 [GRCh38]
Chr9:40704717 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.980T>C (p.Val327Ala) single nucleotide variant not specified [RCV004246928] Chr9:66989518 [GRCh38]
Chr9:40703323 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.202C>T (p.Arg68Trp) single nucleotide variant not specified [RCV004225532] Chr9:66991119 [GRCh38]
Chr9:40701722 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.446T>G (p.Leu149Arg) single nucleotide variant not specified [RCV004139552] Chr9:66990052 [GRCh38]
Chr9:40702789 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3227T>G (p.Met1076Arg) single nucleotide variant not specified [RCV004189797] Chr9:66987271 [GRCh38]
Chr9:40705570 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3560C>A (p.Ala1187Asp) single nucleotide variant not specified [RCV004127707] Chr9:66986938 [GRCh38]
Chr9:40705903 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.986G>T (p.Gly329Val) single nucleotide variant not specified [RCV004186622] Chr9:66989512 [GRCh38]
Chr9:40703329 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.395A>T (p.Asp132Val) single nucleotide variant not specified [RCV004200088] Chr9:66990103 [GRCh38]
Chr9:40702738 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2089A>G (p.Thr697Ala) single nucleotide variant not specified [RCV004104849] Chr9:66988409 [GRCh38]
Chr9:40704432 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3091G>C (p.Val1031Leu) single nucleotide variant not specified [RCV004142186] Chr9:66987407 [GRCh38]
Chr9:40705434 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3722C>A (p.Ala1241Asp) single nucleotide variant not specified [RCV004193074] Chr9:66986776 [GRCh38]
Chr9:40706065 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.262C>T (p.Arg88Trp) single nucleotide variant not specified [RCV004192416] Chr9:66990491 [GRCh38]
Chr9:40702350 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1297G>T (p.Val433Leu) single nucleotide variant not specified [RCV004143637] Chr9:66989201 [GRCh38]
Chr9:40703640 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3959C>A (p.Pro1320His) single nucleotide variant not specified [RCV004227695] Chr9:66986539 [GRCh38]
Chr9:40706302 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1828C>A (p.His610Asn) single nucleotide variant not specified [RCV004104350] Chr9:66988670 [GRCh38]
Chr9:40704171 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.614C>T (p.Pro205Leu) single nucleotide variant not specified [RCV004124100] Chr9:66989884 [GRCh38]
Chr9:40702957 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3179G>T (p.Ser1060Ile) single nucleotide variant not specified [RCV004232666] Chr9:66987319 [GRCh38]
Chr9:40705522 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3452T>A (p.Leu1151Gln) single nucleotide variant not specified [RCV004083455] Chr9:66987046 [GRCh38]
Chr9:40705795 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.149G>A (p.Arg50His) single nucleotide variant not specified [RCV004142803] Chr9:66992373 [GRCh38]
Chr9:40700468 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1807A>G (p.Ile603Val) single nucleotide variant not specified [RCV004234353] Chr9:66988691 [GRCh38]
Chr9:40704150 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.44C>T (p.Ser15Leu) single nucleotide variant not specified [RCV004241002] Chr9:66992478 [GRCh38]
Chr9:40700363 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.487C>A (p.Gln163Lys) single nucleotide variant not specified [RCV004071101] Chr9:66990011 [GRCh38]
Chr9:40702830 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3740C>T (p.Pro1247Leu) single nucleotide variant not specified [RCV004113125] Chr9:66986758 [GRCh38]
Chr9:40706083 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.355G>C (p.Gly119Arg) single nucleotide variant not specified [RCV004195540] Chr9:66990143 [GRCh38]
Chr9:40702698 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.284C>T (p.Ser95Leu) single nucleotide variant not specified [RCV004074065] Chr9:66990469 [GRCh38]
Chr9:40702372 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.464C>T (p.Pro155Leu) single nucleotide variant not specified [RCV004210545] Chr9:66990034 [GRCh38]
Chr9:40702807 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.917C>T (p.Pro306Leu) single nucleotide variant not specified [RCV004181900] Chr9:66989581 [GRCh38]
Chr9:40703260 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.363C>A (p.Asp121Glu) single nucleotide variant not specified [RCV004216591] Chr9:66990135 [GRCh38]
Chr9:40702706 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3862C>A (p.Gln1288Lys) single nucleotide variant not specified [RCV004073485] Chr9:66986636 [GRCh38]
Chr9:40706205 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.422C>T (p.Pro141Leu) single nucleotide variant not specified [RCV004155157] Chr9:66990076 [GRCh38]
Chr9:40702765 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.4036G>A (p.Gly1346Ser) single nucleotide variant not specified [RCV004245736] Chr9:66986462 [GRCh38]
Chr9:40706379 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2944G>A (p.Ala982Thr) single nucleotide variant not specified [RCV004186087] Chr9:66987554 [GRCh38]
Chr9:40705287 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.184A>G (p.Arg62Gly) single nucleotide variant not specified [RCV004074792] Chr9:66992338 [GRCh38]
Chr9:40700503 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.421C>A (p.Pro141Thr) single nucleotide variant not specified [RCV004222097] Chr9:66990077 [GRCh38]
Chr9:40702764 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3491G>T (p.Gly1164Val) single nucleotide variant not specified [RCV004203837] Chr9:66987007 [GRCh38]
Chr9:40705834 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2377G>A (p.Glu793Lys) single nucleotide variant not specified [RCV004124914] Chr9:66988121 [GRCh38]
Chr9:40704720 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3124G>A (p.Val1042Met) single nucleotide variant not specified [RCV004186941] Chr9:66987374 [GRCh38]
Chr9:40705467 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1011G>C (p.Lys337Asn) single nucleotide variant not specified [RCV004096122] Chr9:66989487 [GRCh38]
Chr9:40703354 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2449C>T (p.Leu817Phe) single nucleotide variant not specified [RCV004116225] Chr9:66988049 [GRCh38]
Chr9:40704792 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.704T>C (p.Ile235Thr) single nucleotide variant not specified [RCV004211310] Chr9:66989794 [GRCh38]
Chr9:40703047 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.431A>T (p.Asp144Val) single nucleotide variant not specified [RCV004123177] Chr9:66990067 [GRCh38]
Chr9:40702774 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2299C>T (p.His767Tyr) single nucleotide variant not specified [RCV004136624] Chr9:66988199 [GRCh38]
Chr9:40704642 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.693C>A (p.Asp231Glu) single nucleotide variant not specified [RCV004173843] Chr9:66989805 [GRCh38]
Chr9:40703036 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.748G>A (p.Val250Ile) single nucleotide variant not specified [RCV004155280] Chr9:66989750 [GRCh38]
Chr9:40703091 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2695C>T (p.Pro899Ser) single nucleotide variant not specified [RCV004179999] Chr9:66987803 [GRCh38]
Chr9:40705038 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1723A>T (p.Asn575Tyr) single nucleotide variant not specified [RCV004168976] Chr9:66988775 [GRCh38]
Chr9:40704066 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1468C>T (p.Arg490Trp) single nucleotide variant not specified [RCV004223371] Chr9:66989030 [GRCh38]
Chr9:40703811 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1306A>G (p.Arg436Gly) single nucleotide variant not specified [RCV004087251] Chr9:66989192 [GRCh38]
Chr9:40703649 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3711G>T (p.Gln1237His) single nucleotide variant not specified [RCV004263838] Chr9:66986787 [GRCh38]
Chr9:40706054 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2999C>A (p.Pro1000Gln) single nucleotide variant not specified [RCV004274975] Chr9:66987499 [GRCh38]
Chr9:40705342 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2599G>A (p.Ala867Thr) single nucleotide variant not specified [RCV004259317] Chr9:66987899 [GRCh38]
Chr9:40704942 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3677C>T (p.Ala1226Val) single nucleotide variant not specified [RCV004253380] Chr9:66986821 [GRCh38]
Chr9:40706020 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1039G>A (p.Val347Ile) single nucleotide variant not specified [RCV004262010] Chr9:66989459 [GRCh38]
Chr9:40703382 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2674T>C (p.Trp892Arg) single nucleotide variant not specified [RCV004274756] Chr9:66987824 [GRCh38]
Chr9:40705017 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.785C>T (p.Ala262Val) single nucleotide variant not specified [RCV004254331] Chr9:66989713 [GRCh38]
Chr9:40703128 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3883C>T (p.Arg1295Trp) single nucleotide variant not specified [RCV004250721] Chr9:66986615 [GRCh38]
Chr9:40706226 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1105T>C (p.Ser369Pro) single nucleotide variant not specified [RCV004250826] Chr9:66989393 [GRCh38]
Chr9:40703448 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.934A>T (p.Met312Leu) single nucleotide variant not specified [RCV004257720] Chr9:66989564 [GRCh38]
Chr9:40703277 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2915C>T (p.Ala972Val) single nucleotide variant not specified [RCV004278494] Chr9:66987583 [GRCh38]
Chr9:40705258 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.607C>G (p.Leu203Val) single nucleotide variant not specified [RCV004259937] Chr9:66989891 [GRCh38]
Chr9:40702950 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2055T>A (p.Asp685Glu) single nucleotide variant not specified [RCV004275704] Chr9:66988443 [GRCh38]
Chr9:40704398 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.208C>T (p.Arg70Trp) single nucleotide variant not specified [RCV004267349] Chr9:66991113 [GRCh38]
Chr9:40701728 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3724C>G (p.Pro1242Ala) single nucleotide variant not specified [RCV004270140] Chr9:66986774 [GRCh38]
Chr9:40706067 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.874G>C (p.Ala292Pro) single nucleotide variant not specified [RCV004262608] Chr9:66989624 [GRCh38]
Chr9:40703217 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3389C>A (p.Thr1130Asn) single nucleotide variant not specified [RCV004273088] Chr9:66987109 [GRCh38]
Chr9:40705732 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2867C>T (p.Pro956Leu) single nucleotide variant not specified [RCV004325718] Chr9:66987631 [GRCh38]
Chr9:40705210 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.400G>A (p.Ala134Thr) single nucleotide variant not specified [RCV004355209] Chr9:66990098 [GRCh38]
Chr9:40702743 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3620A>G (p.Gln1207Arg) single nucleotide variant not specified [RCV004342358] Chr9:66986878 [GRCh38]
Chr9:40705963 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.644C>T (p.Ala215Val) single nucleotide variant not specified [RCV004363172] Chr9:66989854 [GRCh38]
Chr9:40702987 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.551C>A (p.Ser184Tyr) single nucleotide variant not specified [RCV004349127] Chr9:66989947 [GRCh38]
Chr9:40702894 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1729C>A (p.Pro577Thr) single nucleotide variant not specified [RCV004350001] Chr9:66988769 [GRCh38]
Chr9:40704072 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.234C>A (p.Asn78Lys) single nucleotide variant not specified [RCV004355640] Chr9:66991087 [GRCh38]
Chr9:40701754 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3171T>A (p.His1057Gln) single nucleotide variant not provided [RCV003435792] Chr9:66987327 [GRCh38]
Chr9:40705514 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.1885G>A (p.Glu629Lys) single nucleotide variant not provided [RCV003435791] Chr9:66988613 [GRCh38]
Chr9:40704228 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.465G>A (p.Pro155=) single nucleotide variant not provided [RCV003884917] Chr9:66990033 [GRCh38]
Chr9:40702808 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.2671G>A (p.Ala891Thr) single nucleotide variant not specified [RCV004460269] Chr9:66987827 [GRCh38]
Chr9:40705014 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.365C>T (p.Pro122Leu) single nucleotide variant not specified [RCV004460275] Chr9:66990133 [GRCh38]
Chr9:40702708 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2035C>T (p.Pro679Ser) single nucleotide variant not specified [RCV004460265] Chr9:66988463 [GRCh38]
Chr9:40704378 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2947C>G (p.Pro983Ala) single nucleotide variant not specified [RCV004460271] Chr9:66987551 [GRCh38]
Chr9:40705290 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3473C>T (p.Pro1158Leu) single nucleotide variant not specified [RCV004460273] Chr9:66987025 [GRCh38]
Chr9:40705816 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3645A>T (p.Gln1215His) single nucleotide variant not specified [RCV004460274] Chr9:66986853 [GRCh38]
Chr9:40705988 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1657G>A (p.Glu553Lys) single nucleotide variant not specified [RCV004460263] Chr9:66988841 [GRCh38]
Chr9:40704000 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.1999C>A (p.Pro667Thr) single nucleotide variant not specified [RCV004460264] Chr9:66988499 [GRCh38]
Chr9:40704342 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2071C>T (p.Arg691Trp) single nucleotide variant not specified [RCV004460266] Chr9:66988427 [GRCh38]
Chr9:40704414 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2585G>A (p.Arg862Lys) single nucleotide variant not specified [RCV004460268] Chr9:66987913 [GRCh38]
Chr9:40704928 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.2929G>A (p.Val977Met) single nucleotide variant not specified [RCV004460270] Chr9:66987569 [GRCh38]
Chr9:40705272 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.367C>T (p.Pro123Ser) single nucleotide variant not specified [RCV004460276] Chr9:66990131 [GRCh38]
Chr9:40702710 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3697A>G (p.Asn1233Asp) single nucleotide variant not specified [RCV004460277] Chr9:66986801 [GRCh38]
Chr9:40706040 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.3743G>C (p.Cys1248Ser) single nucleotide variant not specified [RCV004460279] Chr9:66986755 [GRCh38]
Chr9:40706086 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.505C>A (p.Pro169Thr) single nucleotide variant not specified [RCV004460281] Chr9:66989993 [GRCh38]
Chr9:40702848 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001083124.1(SPATA31A3):c.631C>T (p.Pro211Ser) single nucleotide variant not specified [RCV004460282] Chr9:66989867 [GRCh38]
Chr9:40702974 [GRCh37]
Chr9:9q21.11		 likely benign
NM_001083124.1(SPATA31A3):c.925A>T (p.Thr309Ser) single nucleotide variant not specified [RCV004460283] Chr9:66989573 [GRCh38]
Chr9:40703268 [GRCh37]
Chr9:9q21.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:216
Count of miRNA genes:200
Interacting mature miRNAs:206
Transcripts:ENST00000356699, ENST00000463536
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 adipose tissue appendage
High
Medium
Low 1 341
Below cutoff 66 74 44 11 40 7 95 60 108 7 58 43 4 23 60

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000428649   ⟹   ENSP00000485118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl966,986,304 - 66,992,550 (-)Ensembl
RefSeq Acc Id: NM_001083124   ⟹   NP_001076593
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38966,986,304 - 66,992,550 (-)NCBI
GRCh37940,700,291 - 40,706,537 (+)RGD
Build 36940,690,291 - 40,696,537 (+)NCBI Archive
HuRef939,190,178 - 39,193,579 (-)RGD
CHM1_1940,712,058 - 40,718,319 (+)NCBI
T2T-CHM13v2.0978,758,409 - 78,764,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545680   ⟹   XP_011543982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38966,986,304 - 66,991,033 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054363720   ⟹   XP_054219695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0978,758,409 - 78,763,140 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001076593 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543982 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219695 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAB45741 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000485118
  ENSP00000485118.1
GenBank Protein Q5VYP0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001076593   ⟸   NM_001083124
- UniProtKB: Q5VYP0 (UniProtKB/Swiss-Prot),   B2RUU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543982   ⟸   XM_011545680
- Peptide Label: isoform X1
- UniProtKB: B2RUU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000485118   ⟸   ENST00000428649
RefSeq Acc Id: XP_054219695   ⟸   XM_054363720
- Peptide Label: isoform X1
Protein Domains
SPATA31   SPATA31F3-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VYP0-F1-model_v2 AlphaFold Q5VYP0 1-1347 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32003 AgrOrtholog
COSMIC SPATA31A3 COSMIC
Ensembl Genes ENSG00000275969 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000428649 ENTREZGENE
  ENST00000428649.5 UniProtKB/Swiss-Prot
GTEx ENSG00000275969 GTEx
HGNC ID HGNC:32003 ENTREZGENE
Human Proteome Map SPATA31A3 Human Proteome Map
InterPro DUF4599 UniProtKB/Swiss-Prot
  SPATA31 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  SPATA31F3-like UniProtKB/TrEMBL
KEGG Report hsa:727830 UniProtKB/Swiss-Prot
NCBI Gene 727830 ENTREZGENE
PANTHER ACROSOME-SPECIFIC PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPERMATOGENESIS-ASSOCIATED PROTEIN 31A1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4599 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM75 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162387867 PharmGKB
UniProt B2RUU1 ENTREZGENE, UniProtKB/TrEMBL
  Q5VYP0 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 SPATA31A3  SPATA31 subfamily A member 3    SPATA31 subfamily A, member 3  Symbol and/or name change 5135510 APPROVED
2012-10-16 SPATA31A3  SPATA31 subfamily A, member 3  FAM75A3  family with sequence similarity 75, member A3  Symbol and/or name change 5135510 APPROVED