SPATA31A1 (SPATA31 subfamily A member 1) - Rat Genome Database

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Gene: SPATA31A1 (SPATA31 subfamily A member 1) Homo sapiens
Analyze
No known orthologs.
Symbol: SPATA31A1
Name: SPATA31 subfamily A member 1
RGD ID: 1349397
HGNC Page HGNC:23394
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: C9orf36; C9orf36A; FAM75A1; FAM75A2; family with sequence similarity 75, member A1; family with sequence similarity 75, member A2; FLJ56363; hypothetical protein LOC642265; SPATA31 subfamily A, member 1; SPATA31 subfamily A, member 2; SPATA31 subfamily A, member 4; SPATA31A2; spermatogenesis-associated protein 31A1; spermatogenesis-associated protein 31A2
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Related Pseudogenes: SPATA31B1P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38939,355,667 - 39,361,962 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl939,355,669 - 39,361,962 (+)EnsemblGRCh38hg38GRCh38
GRCh37939,355,666 - 39,361,959 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36939,345,699 - 39,351,956 (+)NCBINCBI36Build 36hg18NCBI36
Build 34941,417,725 - 41,423,968NCBI
Cytogenetic Map9p12NCBI
HuRef939,190,178 - 39,193,579 (-)NCBIHuRef
CHM1_1939,355,473 - 39,890,851 (+)NCBICHM1_1
T2T-CHM13v2.0939,369,111 - 39,375,403 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
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:15164053   PMID:20850414   PMID:30862715  


Genomics

Variants

.
Variants in SPATA31A1
41 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_001085452.2(SPATA31A1):c.412G>A (p.Gly138Ser) single nucleotide variant Malignant melanoma [RCV000068676] Chr9:39358135 [GRCh38]
Chr9:39358132 [GRCh37]
Chr9:39348132 [NCBI36]
Chr9:9p12		 not provided
NM_001085452.2(SPATA31A1):c.3355C>T (p.Pro1119Ser) single nucleotide variant Malignant melanoma [RCV000068677] Chr9:39361078 [GRCh38]
Chr9:39361075 [GRCh37]
Chr9:39351075 [NCBI36]
Chr9:9p12		 not provided
NM_001085452.2(SPATA31A1):c.3384G>A (p.Arg1128=) single nucleotide variant Malignant melanoma [RCV000068678] Chr9:39361107 [GRCh38]
Chr9:39361104 [GRCh37]
Chr9:39351104 [NCBI36]
Chr9:9p12		 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 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
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 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 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
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
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
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
NM_001085452.4(SPATA31A1):c.3119C>A (p.Ser1040Tyr) single nucleotide variant not specified [RCV004322262] Chr9:39360884 [GRCh38]
Chr9:39360881 [GRCh37]
Chr9:9p12		 uncertain significance
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
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
NM_001085452.4(SPATA31A1):c.1432G>A (p.Glu478Lys) single nucleotide variant not specified [RCV004333993] Chr9:39359197 [GRCh38]
Chr9:39359194 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1202C>T (p.Pro401Leu) single nucleotide variant not specified [RCV004318934] Chr9:39358967 [GRCh38]
Chr9:39358964 [GRCh37]
Chr9:9p12		 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-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
GRCh37/hg19 9p13.1(chr9:38820027-40534879)x3 copy number gain not provided [RCV000748401] Chr9:38820027..40534879 [GRCh37]
Chr9:9p13.1		 benign
GRCh37/hg19 9p13.1(chr9:39318346-39443544)x1 copy number loss not provided [RCV000748402] Chr9:39318346..39443544 [GRCh37]
Chr9:9p13.1		 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
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_001085452.4(SPATA31A1):c.1192= (p.Leu398=) variation not specified [RCV004291587] Chr9:39358957 [GRCh38]
Chr9:39358954 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.3091G>A (p.Val1031Ile) single nucleotide variant not specified [RCV004320440] Chr9:39360856 [GRCh38]
Chr9:39360853 [GRCh37]
Chr9:9p12		 uncertain significance
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 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 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 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-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [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
NM_001085452.4(SPATA31A1):c.432T>G (p.Asp144Glu) single nucleotide variant not specified [RCV004298972] Chr9:39358197 [GRCh38]
Chr9:39358194 [GRCh37]
Chr9:9p12		 uncertain significance
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-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-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NM_001085452.4(SPATA31A1):c.2940C>A (p.Phe980Leu) single nucleotide variant not specified [RCV004304914] Chr9:39360705 [GRCh38]
Chr9:39360702 [GRCh37]
Chr9:9p12		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
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_001085452.4(SPATA31A1):c.538T>C (p.Ser180Pro) single nucleotide variant not specified [RCV004323835] Chr9:39358303 [GRCh38]
Chr9:39358300 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.958C>T (p.Leu320Phe) single nucleotide variant not specified [RCV004239821] Chr9:39358723 [GRCh38]
Chr9:39358720 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1211G>T (p.Trp404Leu) single nucleotide variant not specified [RCV004197818] Chr9:39358976 [GRCh38]
Chr9:39358973 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.3481A>G (p.Ser1161Gly) single nucleotide variant not specified [RCV004126063] Chr9:39361246 [GRCh38]
Chr9:39361243 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3584A>T (p.Asn1195Ile) single nucleotide variant not specified [RCV004153739] Chr9:39361349 [GRCh38]
Chr9:39361346 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1385T>A (p.Met462Lys) single nucleotide variant not specified [RCV004187100] Chr9:39359150 [GRCh38]
Chr9:39359147 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.3657G>T (p.Glu1219Asp) single nucleotide variant not specified [RCV004138141] Chr9:39361422 [GRCh38]
Chr9:39361419 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.482A>G (p.His161Arg) single nucleotide variant not specified [RCV004125366] Chr9:39358247 [GRCh38]
Chr9:39358244 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.484C>T (p.Pro162Ser) single nucleotide variant not specified [RCV004181645] Chr9:39358249 [GRCh38]
Chr9:39358246 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.452C>T (p.Pro151Leu) single nucleotide variant not specified [RCV004188097] Chr9:39358217 [GRCh38]
Chr9:39358214 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.689G>A (p.Arg230Gln) single nucleotide variant not specified [RCV004184370] Chr9:39358454 [GRCh38]
Chr9:39358451 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3490G>C (p.Gly1164Arg) single nucleotide variant not specified [RCV004164049] Chr9:39361255 [GRCh38]
Chr9:39361252 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.910C>T (p.Arg304Cys) single nucleotide variant Inborn genetic diseases [RCV002956417] Chr9:39358675 [GRCh38]
Chr9:39358672 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.464C>T (p.Pro155Leu) single nucleotide variant not specified [RCV004176681] Chr9:39358229 [GRCh38]
Chr9:39358226 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3862C>A (p.Gln1288Lys) single nucleotide variant not specified [RCV004071342] Chr9:39361627 [GRCh38]
Chr9:39361624 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.38C>T (p.Ala13Val) single nucleotide variant not specified [RCV004127495] Chr9:39355768 [GRCh38]
Chr9:39355765 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1091G>A (p.Arg364Gln) single nucleotide variant not specified [RCV004195622] Chr9:39358856 [GRCh38]
Chr9:39358853 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.481C>T (p.His161Tyr) single nucleotide variant not specified [RCV004182464] Chr9:39358246 [GRCh38]
Chr9:39358243 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.464C>G (p.Pro155Arg) single nucleotide variant not specified [RCV004173931] Chr9:39358229 [GRCh38]
Chr9:39358226 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3304C>A (p.Pro1102Thr) single nucleotide variant not specified [RCV004098474] Chr9:39361069 [GRCh38]
Chr9:39361066 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.2913A>C (p.Gln971His) single nucleotide variant not specified [RCV004257880] Chr9:39360678 [GRCh38]
Chr9:39360675 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.610T>C (p.Phe204Leu) single nucleotide variant not specified [RCV004256823] Chr9:39358375 [GRCh38]
Chr9:39358372 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3289T>G (p.Cys1097Gly) single nucleotide variant not specified [RCV004257881] Chr9:39361054 [GRCh38]
Chr9:39361051 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1219A>G (p.Ser407Gly) single nucleotide variant not specified [RCV004265889] Chr9:39358984 [GRCh38]
Chr9:39358981 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.863G>A (p.Arg288Lys) single nucleotide variant not specified [RCV004272588] Chr9:39358628 [GRCh38]
Chr9:39358625 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.911G>A (p.Arg304His) single nucleotide variant not specified [RCV004290620] Chr9:39358676 [GRCh38]
Chr9:39358673 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.93T>C (p.Thr31=) single nucleotide variant not provided [RCV003425668] Chr9:39355823 [GRCh38]
Chr9:39355820 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.1478C>A (p.Pro493His) single nucleotide variant not specified [RCV004358807] Chr9:39359243 [GRCh38]
Chr9:39359240 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.980C>T (p.Ala327Val) single nucleotide variant not specified [RCV004345329] Chr9:39358745 [GRCh38]
Chr9:39358742 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.2876G>C (p.Arg959Thr) single nucleotide variant not specified [RCV004340338] Chr9:39360641 [GRCh38]
Chr9:39360638 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1085C>A (p.Ser362Tyr) single nucleotide variant not specified [RCV004347653] Chr9:39358850 [GRCh38]
Chr9:39358847 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3314C>T (p.Pro1105Leu) single nucleotide variant not provided [RCV003435790]|not specified [RCV004364627] Chr9:39361079 [GRCh38]
Chr9:39361076 [GRCh37]
Chr9:9p12		 likely benign|uncertain significance
NM_001085452.4(SPATA31A1):c.1438C>A (p.Gln480Lys) single nucleotide variant not specified [RCV004460238] Chr9:39359203 [GRCh38]
Chr9:39359200 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1474A>C (p.Thr492Pro) single nucleotide variant not specified [RCV004460239] Chr9:39359239 [GRCh38]
Chr9:39359236 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.1587G>C (p.Gln529His) single nucleotide variant not specified [RCV004460241] Chr9:39359352 [GRCh38]
Chr9:39359349 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3457T>G (p.Ser1153Ala) single nucleotide variant not specified [RCV004460254] Chr9:39361222 [GRCh38]
Chr9:39361219 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.3490G>A (p.Gly1164Arg) single nucleotide variant not specified [RCV004460255] Chr9:39361255 [GRCh38]
Chr9:39361252 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.784G>A (p.Ala262Thr) single nucleotide variant not specified [RCV004460258] Chr9:39358549 [GRCh38]
Chr9:39358546 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.977A>G (p.Asn326Ser) single nucleotide variant not specified [RCV004460260] Chr9:39358742 [GRCh38]
Chr9:39358739 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.982G>A (p.Val328Met) single nucleotide variant not specified [RCV004460261] Chr9:39358747 [GRCh38]
Chr9:39358744 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1054G>A (p.Asp352Asn) single nucleotide variant not specified [RCV004460225] Chr9:39358819 [GRCh38]
Chr9:39358816 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1159G>A (p.Glu387Lys) single nucleotide variant not specified [RCV004460228] Chr9:39358924 [GRCh38]
Chr9:39358921 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1183C>T (p.Pro395Ser) single nucleotide variant not specified [RCV004460231] Chr9:39358948 [GRCh38]
Chr9:39358945 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1207C>T (p.Leu403Phe) single nucleotide variant not specified [RCV004460232] Chr9:39358972 [GRCh38]
Chr9:39358969 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1277C>T (p.Ser426Phe) single nucleotide variant not specified [RCV004460233] Chr9:39359042 [GRCh38]
Chr9:39359039 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1291G>A (p.Ala431Thr) single nucleotide variant not specified [RCV004460234] Chr9:39359056 [GRCh38]
Chr9:39359053 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1327C>T (p.Pro443Ser) single nucleotide variant not specified [RCV004460235] Chr9:39359092 [GRCh38]
Chr9:39359089 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1336T>G (p.Leu446Val) single nucleotide variant not specified [RCV004460237] Chr9:39359101 [GRCh38]
Chr9:39359098 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1529T>C (p.Leu510Pro) single nucleotide variant not specified [RCV004460240] Chr9:39359294 [GRCh38]
Chr9:39359291 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3418G>A (p.Glu1140Lys) single nucleotide variant not specified [RCV004460252] Chr9:39361183 [GRCh38]
Chr9:39361180 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3454C>T (p.Pro1152Ser) single nucleotide variant not specified [RCV004460253] Chr9:39361219 [GRCh38]
Chr9:39361216 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.545G>A (p.Ser182Asn) single nucleotide variant not specified [RCV004460257] Chr9:39358310 [GRCh38]
Chr9:39358307 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.929A>G (p.Tyr310Cys) single nucleotide variant not specified [RCV004460259] Chr9:39358694 [GRCh38]
Chr9:39358691 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.1122G>C (p.Gln374His) single nucleotide variant not specified [RCV004460227] Chr9:39358887 [GRCh38]
Chr9:39358884 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.262C>T (p.Pro88Ser) single nucleotide variant not specified [RCV004460242] Chr9:39357772 [GRCh38]
Chr9:39357769 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.274C>G (p.Gln92Glu) single nucleotide variant not specified [RCV004460243] Chr9:39357784 [GRCh38]
Chr9:39357781 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.284C>T (p.Ser95Leu) single nucleotide variant not specified [RCV004460244] Chr9:39357794 [GRCh38]
Chr9:39357791 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.2941G>A (p.Glu981Lys) single nucleotide variant not specified [RCV004460246] Chr9:39360706 [GRCh38]
Chr9:39360703 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.2954C>G (p.Thr985Ser) single nucleotide variant not specified [RCV004460247] Chr9:39360719 [GRCh38]
Chr9:39360716 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3088G>A (p.Ala1030Thr) single nucleotide variant not specified [RCV004460248] Chr9:39360853 [GRCh38]
Chr9:39360850 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3148G>A (p.Val1050Ile) single nucleotide variant not specified [RCV004460249] Chr9:39360913 [GRCh38]
Chr9:39360910 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1052C>T (p.Thr351Ile) single nucleotide variant not specified [RCV004460224] Chr9:39358817 [GRCh38]
Chr9:39358814 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1094A>G (p.Asn365Ser) single nucleotide variant not specified [RCV004460226] Chr9:39358859 [GRCh38]
Chr9:39358856 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.1180G>A (p.Gly394Arg) single nucleotide variant not specified [RCV004460230] Chr9:39358945 [GRCh38]
Chr9:39358942 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.2924A>T (p.Glu975Val) single nucleotide variant not specified [RCV004460245] Chr9:39360689 [GRCh38]
Chr9:39360686 [GRCh37]
Chr9:9p12		 likely benign
NM_001085452.4(SPATA31A1):c.3317C>T (p.Pro1106Leu) single nucleotide variant not specified [RCV004460250] Chr9:39361082 [GRCh38]
Chr9:39361079 [GRCh37]
Chr9:9p12		 uncertain significance
NM_001085452.4(SPATA31A1):c.3338C>T (p.Ser1113Phe) single nucleotide variant not specified [RCV004460251] Chr9:39361103 [GRCh38]
Chr9:39361100 [GRCh37]
Chr9:9p12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:210
Count of miRNA genes:201
Interacting mature miRNAs:208
Transcripts:ENST00000377647, ENST00000473440
Prediction methods: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 138
Low 1 1 2 8 1 2 230 4 1
Below cutoff 203 228 143 31 135 21 417 146 354 15 98 120 10 84 175

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000377647   ⟹   ENSP00000366875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl939,355,669 - 39,361,962 (+)Ensembl
RefSeq Acc Id: ENST00000473440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl939,357,335 - 39,358,699 (+)Ensembl
RefSeq Acc Id: NM_001085452   ⟹   NP_001078921
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38939,355,669 - 39,361,962 (+)NCBI
GRCh37939,355,699 - 39,361,956 (+)NCBI
T2T-CHM13v2.0939,369,113 - 39,375,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423731   ⟹   XP_047279687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38939,355,667 - 39,361,931 (+)NCBI
RefSeq Acc Id: XM_054363553   ⟹   XP_054219528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0939,369,111 - 39,375,403 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001078921 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279687 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219528 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI46856 (Get FASTA)   NCBI Sequence Viewer  
  BAG63831 (Get FASTA)   NCBI Sequence Viewer  
  CAI17100 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366875
  ENSP00000366875.5
GenBank Protein Q5TZJ5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001078921   ⟸   NM_001085452
- UniProtKB: Q5TZJ5 (UniProtKB/Swiss-Prot),   Q5RGS2 (UniProtKB/Swiss-Prot),   B2RUU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000366875   ⟸   ENST00000377647
RefSeq Acc Id: XP_047279687   ⟸   XM_047423731
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219528   ⟸   XM_054363553
- Peptide Label: isoform X1
Protein Domains
SPATA31   SPATA31F3-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5TZJ5-F1-model_v2 AlphaFold Q5TZJ5 1-1347 view protein structure

Promoters
RGD ID:7215145
Promoter ID:EPDNEW_H13318
Type:multiple initiation site
Name:SPATA31A1_1
Description:SPATA31 subfamily A member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38939,355,702 - 39,355,762EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23394 AgrOrtholog
COSMIC SPATA31A1 COSMIC
Ensembl Genes ENSG00000204849 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377647 ENTREZGENE
  ENST00000377647.6 UniProtKB/Swiss-Prot
GTEx ENSG00000204849 GTEx
HGNC ID HGNC:23394 ENTREZGENE
Human Proteome Map SPATA31A1 Human Proteome Map
InterPro DUF4599 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPATA31/FAM205 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:647060 UniProtKB/TrEMBL
NCBI Gene SPATA31A1 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 PA162387841 PharmGKB
UniProt B2RUU1 ENTREZGENE, UniProtKB/TrEMBL
  B4DYR9_HUMAN UniProtKB/TrEMBL
  Q5RGS2 ENTREZGENE
  Q5TZJ5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5RGS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 SPATA31A1  SPATA31 subfamily A member 1    SPATA31 subfamily A, member 1  Symbol and/or name change 5135510 APPROVED
2016-04-05 SPATA31A1  SPATA31 subfamily A, member 1  SPATA31A2  SPATA31 subfamily A, member 2  Data merged from RGD:1606852 737654 PROVISIONAL
2014-09-29 SPATA31A1  SPATA31 subfamily A, member 1  SPATA31A7  SPATA31 subfamily A, member 7  Symbol and/or name change 5135510 APPROVED
2014-09-17 SPATA31A7  SPATA31 subfamily A, member 7  SPATA31A1  SPATA31 subfamily A, member 1  Symbol and/or name change 5135510 APPROVED
2013-08-20 SPATA31A1  SPATA31 subfamily A, member 1  C9orf36  chromosome 9 open reading frame 36  Symbol and/or name change 5135510 APPROVED
2012-10-16 SPATA31A2  SPATA31 subfamily A, member 2  FAM75A2  family with sequence similarity 75, member A2  Symbol and/or name change 5135510 APPROVED