SPATA31E1 (SPATA31 subfamily E member 1) - Rat Genome Database

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Gene: SPATA31E1 (SPATA31 subfamily E member 1) Homo sapiens
Analyze
Symbol: SPATA31E1
Name: SPATA31 subfamily E member 1
RGD ID: 1351279
HGNC Page HGNC:26672
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: C9orf79; FAM75-like protein C9orf79; FAM75E1; family with sequence similarity 75, member E1; FLJ35866; SPATA31 subfamily E, member 1; spermatogenesis-associated protein 31E1; XXyac-YM21GA2.5
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SPATA31E2P   SPATA31E3P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38987,882,877 - 87,888,903 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl987,882,877 - 87,888,903 (+)EnsemblGRCh38hg38GRCh38
GRCh37990,497,792 - 90,503,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36989,687,592 - 89,693,634 (+)NCBINCBI36Build 36hg18NCBI36
Build 34987,727,325 - 87,733,366NCBI
Celera961,066,984 - 61,073,026 (+)NCBICelera
Cytogenetic Map9q22.1NCBI
HuRef960,320,898 - 60,326,940 (+)NCBIHuRef
CHM1_1990,645,791 - 90,651,833 (+)NCBICHM1_1
T2T-CHM13v2.09100,036,904 - 100,042,930 (+)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:14702039   PMID:15164053   PMID:30021884   PMID:35044719  


Genomics

Comparative Map Data
SPATA31E1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38987,882,877 - 87,888,903 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl987,882,877 - 87,888,903 (+)EnsemblGRCh38hg38GRCh38
GRCh37990,497,792 - 90,503,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36989,687,592 - 89,693,634 (+)NCBINCBI36Build 36hg18NCBI36
Build 34987,727,325 - 87,733,366NCBI
Celera961,066,984 - 61,073,026 (+)NCBICelera
Cytogenetic Map9q22.1NCBI
HuRef960,320,898 - 60,326,940 (+)NCBIHuRef
CHM1_1990,645,791 - 90,651,833 (+)NCBICHM1_1
T2T-CHM13v2.09100,036,904 - 100,042,930 (+)NCBIT2T-CHM13v2.0
Spata31e1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391349,938,173 - 49,943,728 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1349,938,241 - 49,952,477 (-)EnsemblGRCm39 Ensembl
GRCm381349,783,969 - 49,790,252 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1349,784,765 - 49,799,001 (-)EnsemblGRCm38mm10GRCm38
MGSCv371349,880,134 - 49,885,569 (-)MERGEGRCm37MGSCv37mm9NCBIm37
Celera1350,874,609 - 50,880,263 (-)NCBICelera
Cytogenetic Map13A5NCBI
Spata31e1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8938,594,738 - 38,600,395 (-)NCBIGRCr8
mRatBN7.2931,098,557 - 31,104,212 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl931,098,260 - 31,104,196 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0935,289,422 - 35,295,479 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl935,289,443 - 35,295,041 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0934,098,837 - 34,104,860 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera928,565,043 - 28,570,937 (-)NCBICelera
Cytogenetic Map9q21NCBI
SPATA31E1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21151,567,637 - 51,573,741 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1951,570,028 - 51,576,132 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0958,977,949 - 58,984,053 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1987,029,053 - 87,034,983 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl987,029,053 - 87,034,983 (+)Ensemblpanpan1.1panPan2
LOC102155374
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1194,097,900 - 94,103,836 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha194,540,712 - 94,546,642 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0194,690,182 - 94,696,112 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1194,321,054 - 94,326,983 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0194,046,052 - 94,051,982 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0194,808,665 - 94,814,595 (-)NCBIUU_Cfam_GSD_1.0
LOC102166000
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11195,848,865 - 195,855,281 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21218,133,403 - 218,139,913 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPATA31E1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112102,642,087 - 102,644,541 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603890,901,443 - 90,907,417 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SPATA31E1
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
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 9q21.33-22.2(chr9:87418580-90406012)x1 copy number loss See cases [RCV000050968] Chr9:87418580..90406012 [GRCh38]
Chr9:90033495..93168294 [GRCh37]
Chr9:89223315..92208114 [NCBI36]
Chr9:9q21.33-22.2		 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_178828.4(SPATA31E1):c.19C>T (p.Pro7Ser) single nucleotide variant Malignant melanoma [RCV000068731] Chr9:87882910 [GRCh38]
Chr9:90497825 [GRCh37]
Chr9:89687645 [NCBI36]
Chr9:9q22.1		 not provided
NM_178828.4(SPATA31E1):c.885C>T (p.Gly295=) single nucleotide variant Malignant melanoma [RCV000068732] Chr9:87885372 [GRCh38]
Chr9:90500287 [GRCh37]
Chr9:89690107 [NCBI36]
Chr9:9q22.1		 not provided
NM_178828.4(SPATA31E1):c.2786G>A (p.Gly929Glu) single nucleotide variant Malignant melanoma [RCV000068733] Chr9:87887273 [GRCh38]
Chr9:90502188 [GRCh37]
Chr9:89692008 [NCBI36]
Chr9:9q22.1		 not provided
NM_178828.4(SPATA31E1):c.3136G>A (p.Glu1046Lys) single nucleotide variant Malignant melanoma [RCV000068734] Chr9:87887623 [GRCh38]
Chr9:90502538 [GRCh37]
Chr9:89692358 [NCBI36]
Chr9:9q22.1		 not provided
NM_178828.4(SPATA31E1):c.3588G>A (p.Lys1196=) single nucleotide variant Malignant melanoma [RCV000068735] Chr9:87888075 [GRCh38]
Chr9:90502990 [GRCh37]
Chr9:89692810 [NCBI36]
Chr9:9q22.1		 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 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1 copy number loss See cases [RCV000137602] Chr9:86079851..91827221 [GRCh38]
Chr9:88694766..94589503 [GRCh37]
Chr9:87884586..93629324 [NCBI36]
Chr9:9q21.33-22.31		 pathogenic
GRCh38/hg38 9q21.33-22.1(chr9:87209403-87977877)x3 copy number gain See cases [RCV000138224] Chr9:87209403..87977877 [GRCh38]
Chr9:89824318..90592792 [GRCh37]
Chr9:89014138..89782612 [NCBI36]
Chr9:9q21.33-22.1		 uncertain significance
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 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 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 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 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-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 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 9q22.1(chr9:90497901-90534154)x3 copy number gain See cases [RCV000447120] Chr9:90497901..90534154 [GRCh37]
Chr9:9q22.1		 likely benign
GRCh37/hg19 9q22.1(chr9:90503773-90538211)x3 copy number gain See cases [RCV000446659] Chr9:90503773..90538211 [GRCh37]
Chr9:9q22.1		 benign
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 9q21.33-22.1(chr9:90388377-90809114)x3 copy number gain See cases [RCV000448465] Chr9:90388377..90809114 [GRCh37]
Chr9:9q21.33-22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3890T>A (p.Phe1297Tyr) single nucleotide variant not specified [RCV004294572] Chr9:87888377 [GRCh38]
Chr9:90503292 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3739T>A (p.Tyr1247Asn) single nucleotide variant not specified [RCV004309318] Chr9:87888226 [GRCh38]
Chr9:90503141 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.773C>T (p.Pro258Leu) single nucleotide variant not specified [RCV004327799] Chr9:87885260 [GRCh38]
Chr9:90500175 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3801C>G (p.Ile1267Met) single nucleotide variant not specified [RCV004288658] Chr9:87888288 [GRCh38]
Chr9:90503203 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.109G>A (p.Asp37Asn) single nucleotide variant not specified [RCV004331088] Chr9:87883000 [GRCh38]
Chr9:90497915 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2761G>A (p.Ala921Thr) single nucleotide variant not specified [RCV004320441] Chr9:87887248 [GRCh38]
Chr9:90502163 [GRCh37]
Chr9:9q22.1		 uncertain significance
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 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-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.1(chr9:90431177-90571740)x3 copy number gain not provided [RCV000748510] Chr9:90431177..90571740 [GRCh37]
Chr9:9q22.1		 benign
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
NM_178828.5(SPATA31E1):c.2741C>T (p.Pro914Leu) single nucleotide variant not specified [RCV004294364] Chr9:87887228 [GRCh38]
Chr9:90502143 [GRCh37]
Chr9:9q22.1		 likely benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 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 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3 copy number gain not provided [RCV001006243] Chr9:90002910..94567835 [GRCh37]
Chr9:9q21.33-22.31		 likely pathogenic
NM_178828.5(SPATA31E1):c.1418A>C (p.Lys473Thr) single nucleotide variant not specified [RCV004318740] Chr9:87885905 [GRCh38]
Chr9:90500820 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2099G>C (p.Gly700Ala) single nucleotide variant not specified [RCV004300521] Chr9:87886586 [GRCh38]
Chr9:90501501 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4088A>G (p.His1363Arg) single nucleotide variant not specified [RCV004294384] Chr9:87888575 [GRCh38]
Chr9:90503490 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.113T>C (p.Ile38Thr) single nucleotide variant not specified [RCV004304229] Chr9:87883004 [GRCh38]
Chr9:90497919 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2993A>G (p.Glu998Gly) single nucleotide variant not specified [RCV004294998] Chr9:87887480 [GRCh38]
Chr9:90502395 [GRCh37]
Chr9:9q22.1		 uncertain significance
GRCh37/hg19 9q21.33-22.1(chr9:90353229-90514102)x1 copy number loss not provided [RCV001258442] Chr9:90353229..90514102 [GRCh37]
Chr9:9q21.33-22.1		 uncertain significance
GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1 copy number loss not provided [RCV001258443] Chr9:90031614..93173691 [GRCh37]
Chr9:9q21.33-22.2		 likely pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_178828.5(SPATA31E1):c.1355C>T (p.Ala452Val) single nucleotide variant not specified [RCV004331662] Chr9:87885842 [GRCh38]
Chr9:90500757 [GRCh37]
Chr9:9q22.1		 likely benign
GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1 copy number loss See cases [RCV003329413] Chr9:90342469..93657932 [GRCh37]
Chr9:9q21.33-22.2		 likely pathogenic|uncertain significance
GRCh37/hg19 9q21.33-22.1(chr9:90336741-90609494)x3 copy number gain not provided [RCV001827710] Chr9:90336741..90609494 [GRCh37]
Chr9:9q21.33-22.1		 uncertain significance
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 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 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
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_178828.5(SPATA31E1):c.1849G>A (p.Gly617Arg) single nucleotide variant not specified [RCV004295121] Chr9:87886336 [GRCh38]
Chr9:90501251 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1159G>A (p.Asp387Asn) single nucleotide variant not specified [RCV004332461] Chr9:87885646 [GRCh38]
Chr9:90500561 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2153G>A (p.Arg718Gln) single nucleotide variant not specified [RCV004311074] Chr9:87886640 [GRCh38]
Chr9:90501555 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.643C>A (p.Pro215Thr) single nucleotide variant not specified [RCV004139790] Chr9:87885130 [GRCh38]
Chr9:90500045 [GRCh37]
Chr9:9q22.1		 uncertain significance
GRCh37/hg19 9q21.33-22.1(chr9:90266171-90565780)x3 copy number gain not provided [RCV002474725] Chr9:90266171..90565780 [GRCh37]
Chr9:9q21.33-22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3968T>C (p.Val1323Ala) single nucleotide variant not specified [RCV004143270] Chr9:87888455 [GRCh38]
Chr9:90503370 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.617C>T (p.Pro206Leu) single nucleotide variant not specified [RCV004159211] Chr9:87885104 [GRCh38]
Chr9:90500019 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3350C>T (p.Pro1117Leu) single nucleotide variant not specified [RCV004189899] Chr9:87887837 [GRCh38]
Chr9:90502752 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.742C>A (p.Pro248Thr) single nucleotide variant not specified [RCV004121241] Chr9:87885229 [GRCh38]
Chr9:90500144 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2503C>G (p.Leu835Val) single nucleotide variant not specified [RCV004162922] Chr9:87886990 [GRCh38]
Chr9:90501905 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.85C>G (p.Pro29Ala) single nucleotide variant not specified [RCV004197218] Chr9:87882976 [GRCh38]
Chr9:90497891 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3817G>C (p.Gly1273Arg) single nucleotide variant not specified [RCV004243842] Chr9:87888304 [GRCh38]
Chr9:90503219 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2593G>A (p.Ala865Thr) single nucleotide variant not specified [RCV004128463] Chr9:87887080 [GRCh38]
Chr9:90501995 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.134T>C (p.Met45Thr) single nucleotide variant not specified [RCV004097457] Chr9:87883025 [GRCh38]
Chr9:90497940 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4323G>T (p.Arg1441Ser) single nucleotide variant not specified [RCV004129025] Chr9:87888810 [GRCh38]
Chr9:90503725 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2222G>A (p.Arg741Gln) single nucleotide variant not specified [RCV004204165] Chr9:87886709 [GRCh38]
Chr9:90501624 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2123T>C (p.Leu708Ser) single nucleotide variant not specified [RCV004139297] Chr9:87886610 [GRCh38]
Chr9:90501525 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.800A>G (p.Gln267Arg) single nucleotide variant not specified [RCV004186151] Chr9:87885287 [GRCh38]
Chr9:90500202 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1744C>A (p.Pro582Thr) single nucleotide variant not specified [RCV004232500] Chr9:87886231 [GRCh38]
Chr9:90501146 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.770C>T (p.Pro257Leu) single nucleotide variant not specified [RCV004085316] Chr9:87885257 [GRCh38]
Chr9:90500172 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2798C>A (p.Pro933His) single nucleotide variant not specified [RCV004225178] Chr9:87887285 [GRCh38]
Chr9:90502200 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.242T>C (p.Leu81Pro) single nucleotide variant not specified [RCV004136928] Chr9:87883133 [GRCh38]
Chr9:90498048 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.328G>A (p.Gly110Arg) single nucleotide variant not specified [RCV004205575] Chr9:87884010 [GRCh38]
Chr9:90498925 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3764G>A (p.Gly1255Glu) single nucleotide variant not specified [RCV004178251] Chr9:87888251 [GRCh38]
Chr9:90503166 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2210A>G (p.Glu737Gly) single nucleotide variant not specified [RCV004237979] Chr9:87886697 [GRCh38]
Chr9:90501612 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2076G>C (p.Gln692His) single nucleotide variant not specified [RCV004156584] Chr9:87886563 [GRCh38]
Chr9:90501478 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.401G>A (p.Arg134Gln) single nucleotide variant not specified [RCV004132897] Chr9:87884627 [GRCh38]
Chr9:90499542 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2446G>A (p.Ala816Thr) single nucleotide variant not specified [RCV004085602] Chr9:87886933 [GRCh38]
Chr9:90501848 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1292A>C (p.His431Pro) single nucleotide variant not specified [RCV004158535] Chr9:87885779 [GRCh38]
Chr9:90500694 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1108G>A (p.Ala370Thr) single nucleotide variant not specified [RCV004103976] Chr9:87885595 [GRCh38]
Chr9:90500510 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.998A>G (p.Asp333Gly) single nucleotide variant not specified [RCV004179816] Chr9:87885485 [GRCh38]
Chr9:90500400 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4031G>A (p.Arg1344His) single nucleotide variant not specified [RCV004113436] Chr9:87888518 [GRCh38]
Chr9:90503433 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1051G>A (p.Val351Ile) single nucleotide variant not specified [RCV004226408] Chr9:87885538 [GRCh38]
Chr9:90500453 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2058G>T (p.Lys686Asn) single nucleotide variant Inborn genetic diseases [RCV002767705] Chr9:87886545 [GRCh38]
Chr9:90501460 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3106C>G (p.Leu1036Val) single nucleotide variant not specified [RCV004223278] Chr9:87887593 [GRCh38]
Chr9:90502508 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1282G>A (p.Val428Met) single nucleotide variant not specified [RCV004094617] Chr9:87885769 [GRCh38]
Chr9:90500684 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.986G>A (p.Arg329Gln) single nucleotide variant not specified [RCV004239122] Chr9:87885473 [GRCh38]
Chr9:90500388 [GRCh37]
Chr9:9q22.1		 likely benign
NM_178828.5(SPATA31E1):c.2771C>G (p.Pro924Arg) single nucleotide variant not specified [RCV004237148] Chr9:87887258 [GRCh38]
Chr9:90502173 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.568T>C (p.Ser190Pro) single nucleotide variant not specified [RCV004224293] Chr9:87885055 [GRCh38]
Chr9:90499970 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.31G>A (p.Gly11Ser) single nucleotide variant not specified [RCV004074847] Chr9:87882922 [GRCh38]
Chr9:90497837 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1494C>A (p.His498Gln) single nucleotide variant not specified [RCV004130789] Chr9:87885981 [GRCh38]
Chr9:90500896 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3397C>T (p.Arg1133Cys) single nucleotide variant not specified [RCV004218203] Chr9:87887884 [GRCh38]
Chr9:90502799 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2353G>A (p.Val785Met) single nucleotide variant not specified [RCV004208039] Chr9:87886840 [GRCh38]
Chr9:90501755 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2651G>A (p.Arg884Gln) single nucleotide variant not specified [RCV004209144] Chr9:87887138 [GRCh38]
Chr9:90502053 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2630C>T (p.Pro877Leu) single nucleotide variant not specified [RCV004173118] Chr9:87887117 [GRCh38]
Chr9:90502032 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2402C>T (p.Thr801Ile) single nucleotide variant not specified [RCV004075634] Chr9:87886889 [GRCh38]
Chr9:90501804 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3439C>G (p.Gln1147Glu) single nucleotide variant not specified [RCV004180740] Chr9:87887926 [GRCh38]
Chr9:90502841 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4048C>T (p.Arg1350Cys) single nucleotide variant not specified [RCV004133839] Chr9:87888535 [GRCh38]
Chr9:90503450 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.512C>T (p.Ala171Val) single nucleotide variant not specified [RCV004189036] Chr9:87884999 [GRCh38]
Chr9:90499914 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3559A>G (p.Lys1187Glu) single nucleotide variant not specified [RCV004088486] Chr9:87888046 [GRCh38]
Chr9:90502961 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1568C>T (p.Thr523Ile) single nucleotide variant not specified [RCV004171867] Chr9:87886055 [GRCh38]
Chr9:90500970 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.450A>C (p.Glu150Asp) single nucleotide variant not specified [RCV004098649] Chr9:87884937 [GRCh38]
Chr9:90499852 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2467G>A (p.Glu823Lys) single nucleotide variant not specified [RCV004219604] Chr9:87886954 [GRCh38]
Chr9:90501869 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1306C>T (p.Arg436Cys) single nucleotide variant not specified [RCV004079531] Chr9:87885793 [GRCh38]
Chr9:90500708 [GRCh37]
Chr9:9q22.1		 likely benign
NM_178828.5(SPATA31E1):c.3587A>G (p.Lys1196Arg) single nucleotide variant not specified [RCV004228333] Chr9:87888074 [GRCh38]
Chr9:90502989 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.868A>G (p.Thr290Ala) single nucleotide variant not specified [RCV004218809] Chr9:87885355 [GRCh38]
Chr9:90500270 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3202G>A (p.Gly1068Arg) single nucleotide variant not specified [RCV004269858] Chr9:87887689 [GRCh38]
Chr9:90502604 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1885T>C (p.Trp629Arg) single nucleotide variant not specified [RCV004277232] Chr9:87886372 [GRCh38]
Chr9:90501287 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1489C>T (p.Pro497Ser) single nucleotide variant not specified [RCV004279461] Chr9:87885976 [GRCh38]
Chr9:90500891 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2360G>A (p.Arg787His) single nucleotide variant not specified [RCV004260065] Chr9:87886847 [GRCh38]
Chr9:90501762 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3623G>A (p.Arg1208Lys) single nucleotide variant not specified [RCV004279119] Chr9:87888110 [GRCh38]
Chr9:90503025 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.17T>C (p.Ile6Thr) single nucleotide variant not specified [RCV004251635] Chr9:87882908 [GRCh38]
Chr9:90497823 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2425G>A (p.Ala809Thr) single nucleotide variant not specified [RCV004256313] Chr9:87886912 [GRCh38]
Chr9:90501827 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3167G>A (p.Ser1056Asn) single nucleotide variant not specified [RCV004268134] Chr9:87887654 [GRCh38]
Chr9:90502569 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2083G>A (p.Gly695Arg) single nucleotide variant not specified [RCV004268316] Chr9:87886570 [GRCh38]
Chr9:90501485 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3065T>C (p.Ile1022Thr) single nucleotide variant not specified [RCV004274273] Chr9:87887552 [GRCh38]
Chr9:90502467 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2847T>G (p.Phe949Leu) single nucleotide variant not specified [RCV004257358] Chr9:87887334 [GRCh38]
Chr9:90502249 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3506C>T (p.Ala1169Val) single nucleotide variant not specified [RCV004273089] Chr9:87887993 [GRCh38]
Chr9:90502908 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1166C>T (p.Pro389Leu) single nucleotide variant not specified [RCV004316022] Chr9:87885653 [GRCh38]
Chr9:90500568 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.158G>A (p.Ser53Asn) single nucleotide variant not specified [RCV004345258] Chr9:87883049 [GRCh38]
Chr9:90497964 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2067G>T (p.Lys689Asn) single nucleotide variant not specified [RCV004346226] Chr9:87886554 [GRCh38]
Chr9:90501469 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4015C>G (p.Pro1339Ala) single nucleotide variant not specified [RCV004352612] Chr9:87888502 [GRCh38]
Chr9:90503417 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1170C>A (p.His390Gln) single nucleotide variant not specified [RCV004364933] Chr9:87885657 [GRCh38]
Chr9:90500572 [GRCh37]
Chr9:9q22.1		 likely benign
NM_178828.5(SPATA31E1):c.1585C>A (p.Pro529Thr) single nucleotide variant not specified [RCV004360493] Chr9:87886072 [GRCh38]
Chr9:90500987 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3418G>A (p.Ala1140Thr) single nucleotide variant not specified [RCV004353848] Chr9:87887905 [GRCh38]
Chr9:90502820 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1167G>A (p.Pro389=) single nucleotide variant not provided [RCV003430124] Chr9:87885654 [GRCh38]
Chr9:90500569 [GRCh37]
Chr9:9q22.1		 likely benign
NM_178828.5(SPATA31E1):c.2578G>A (p.Val860Ile) single nucleotide variant not provided [RCV003425702] Chr9:87887065 [GRCh38]
Chr9:90501980 [GRCh37]
Chr9:9q22.1		 likely benign
NM_178828.5(SPATA31E1):c.1367G>C (p.Trp456Ser) single nucleotide variant not specified [RCV004462434] Chr9:87885854 [GRCh38]
Chr9:90500769 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1723C>T (p.Pro575Ser) single nucleotide variant not specified [RCV004462437] Chr9:87886210 [GRCh38]
Chr9:90501125 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1745C>T (p.Pro582Leu) single nucleotide variant not specified [RCV004462438] Chr9:87886232 [GRCh38]
Chr9:90501147 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1856T>C (p.Val619Ala) single nucleotide variant not specified [RCV004462440] Chr9:87886343 [GRCh38]
Chr9:90501258 [GRCh37]
Chr9:9q22.1		 likely benign
NM_178828.5(SPATA31E1):c.2234A>C (p.Lys745Thr) single nucleotide variant not specified [RCV004462444] Chr9:87886721 [GRCh38]
Chr9:90501636 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.281C>T (p.Pro94Leu) single nucleotide variant not specified [RCV004462448] Chr9:87883172 [GRCh38]
Chr9:90498087 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3370G>A (p.Gly1124Ser) single nucleotide variant not specified [RCV004462451] Chr9:87887857 [GRCh38]
Chr9:90502772 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3469T>A (p.Ser1157Thr) single nucleotide variant not specified [RCV004462452] Chr9:87887956 [GRCh38]
Chr9:90502871 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3830G>A (p.Arg1277Lys) single nucleotide variant not specified [RCV004462454] Chr9:87888317 [GRCh38]
Chr9:90503232 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3953C>T (p.Thr1318Ile) single nucleotide variant not specified [RCV004462456] Chr9:87888440 [GRCh38]
Chr9:90503355 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.931G>A (p.Glu311Lys) single nucleotide variant not specified [RCV004462464] Chr9:87885418 [GRCh38]
Chr9:90500333 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1173G>A (p.Met391Ile) single nucleotide variant not specified [RCV004462429] Chr9:87885660 [GRCh38]
Chr9:90500575 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2801C>G (p.Pro934Arg) single nucleotide variant not specified [RCV004462447] Chr9:87887288 [GRCh38]
Chr9:90502203 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4072T>G (p.Cys1358Gly) single nucleotide variant not specified [RCV004462457] Chr9:87888559 [GRCh38]
Chr9:90503474 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4161C>G (p.His1387Gln) single nucleotide variant not specified [RCV004462459] Chr9:87888648 [GRCh38]
Chr9:90503563 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1676T>C (p.Val559Ala) single nucleotide variant not specified [RCV004462436] Chr9:87886163 [GRCh38]
Chr9:90501078 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3187G>A (p.Asp1063Asn) single nucleotide variant not specified [RCV004462449] Chr9:87887674 [GRCh38]
Chr9:90502589 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3262G>C (p.Glu1088Gln) single nucleotide variant not specified [RCV004462450] Chr9:87887749 [GRCh38]
Chr9:90502664 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3527A>G (p.Asp1176Gly) single nucleotide variant not specified [RCV004462453] Chr9:87888014 [GRCh38]
Chr9:90502929 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4330G>A (p.Ala1444Thr) single nucleotide variant not specified [RCV004462460] Chr9:87888817 [GRCh38]
Chr9:90503732 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1252C>G (p.Arg418Gly) single nucleotide variant not specified [RCV004462430] Chr9:87885739 [GRCh38]
Chr9:90500654 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1252C>T (p.Arg418Cys) single nucleotide variant not specified [RCV004462431] Chr9:87885739 [GRCh38]
Chr9:90500654 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.129G>C (p.Glu43Asp) single nucleotide variant not specified [RCV004462432] Chr9:87883020 [GRCh38]
Chr9:90497935 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1588C>A (p.Pro530Thr) single nucleotide variant not specified [RCV004462435] Chr9:87886075 [GRCh38]
Chr9:90500990 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1814C>T (p.Ala605Val) single nucleotide variant not specified [RCV004462439] Chr9:87886301 [GRCh38]
Chr9:90501216 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.1981C>T (p.Pro661Ser) single nucleotide variant not specified [RCV004462441] Chr9:87886468 [GRCh38]
Chr9:90501383 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2105T>C (p.Phe702Ser) single nucleotide variant not specified [RCV004462442] Chr9:87886592 [GRCh38]
Chr9:90501507 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2141C>A (p.Pro714Gln) single nucleotide variant not specified [RCV004462443] Chr9:87886628 [GRCh38]
Chr9:90501543 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2524T>C (p.Phe842Leu) single nucleotide variant not specified [RCV004462445] Chr9:87887011 [GRCh38]
Chr9:90501926 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.2785G>A (p.Gly929Arg) single nucleotide variant not specified [RCV004462446] Chr9:87887272 [GRCh38]
Chr9:90502187 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.3900G>C (p.Trp1300Cys) single nucleotide variant not specified [RCV004462455] Chr9:87888387 [GRCh38]
Chr9:90503302 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.4116G>A (p.Met1372Ile) single nucleotide variant not specified [RCV004462458] Chr9:87888603 [GRCh38]
Chr9:90503518 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.751C>T (p.Pro251Ser) single nucleotide variant not specified [RCV004462462] Chr9:87885238 [GRCh38]
Chr9:90500153 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.834C>A (p.Ser278Arg) single nucleotide variant not specified [RCV004462463] Chr9:87885321 [GRCh38]
Chr9:90500236 [GRCh37]
Chr9:9q22.1		 uncertain significance
NM_178828.5(SPATA31E1):c.997G>A (p.Asp333Asn) single nucleotide variant not specified [RCV004462465] Chr9:87885484 [GRCh38]
Chr9:90500399 [GRCh37]
Chr9:9q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:241
Count of miRNA genes:225
Interacting mature miRNAs:241
Transcripts:ENST00000325643
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.

Markers in Region
SHGC-148454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37990,498,185 - 90,498,472UniSTSGRCh37
Build 36989,688,005 - 89,688,292RGDNCBI36
Celera961,067,397 - 61,067,684RGD
Cytogenetic Map9q22.1UniSTS
HuRef960,321,311 - 60,321,598UniSTS


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 265 4
Low 4 4 3 11 3 6 6 7 2 116 13 2
Below cutoff 1006 459 321 112 372 81 818 356 1124 106 294 358 31 235 453

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000325643   ⟹   ENSP00000322640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl987,882,877 - 87,888,903 (+)Ensembl
RefSeq Acc Id: NM_178828   ⟹   NP_849150
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38987,882,877 - 87,888,903 (+)NCBI
GRCh37990,497,772 - 90,503,814 (+)RGD
Build 36989,687,592 - 89,693,634 (+)NCBI Archive
Celera961,066,984 - 61,073,026 (+)RGD
HuRef960,320,898 - 60,326,940 (+)RGD
CHM1_1990,645,791 - 90,651,833 (+)NCBI
T2T-CHM13v2.09100,036,904 - 100,042,930 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_849150   ⟸   NM_178828
- UniProtKB: Q8NA41 (UniProtKB/Swiss-Prot),   Q5SQC9 (UniProtKB/Swiss-Prot),   B2RPB1 (UniProtKB/Swiss-Prot),   Q8ND27 (UniProtKB/Swiss-Prot),   Q6ZUB1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000322640   ⟸   ENST00000325643

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZUB1-F1-model_v2 AlphaFold Q6ZUB1 1-1445 view protein structure

Promoters
RGD ID:7215393
Promoter ID:EPDNEW_H13443
Type:initiation region
Name:SPATA31E1_1
Description:SPATA31 subfamily E 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
GRCh38987,882,877 - 87,882,937EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26672 AgrOrtholog
COSMIC SPATA31E1 COSMIC
Ensembl Genes ENSG00000177992 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000325643 ENTREZGENE
  ENST00000325643.6 UniProtKB/Swiss-Prot
GTEx ENSG00000177992 GTEx
HGNC ID HGNC:26672 ENTREZGENE
Human Proteome Map SPATA31E1 Human Proteome Map
InterPro DUF4599 UniProtKB/Swiss-Prot
  SPATA31/FAM205 UniProtKB/Swiss-Prot
KEGG Report hsa:286234 UniProtKB/Swiss-Prot
NCBI Gene 286234 ENTREZGENE
PANTHER ACROSOME-SPECIFIC PROTEIN UniProtKB/Swiss-Prot
  SPERMATOGENESIS-ASSOCIATED PROTEIN 31E1 UniProtKB/Swiss-Prot
Pfam DUF4599 UniProtKB/Swiss-Prot
  FAM75 UniProtKB/Swiss-Prot
PharmGKB PA134886884 PharmGKB
UniProt B2RPB1 ENTREZGENE
  Q5SQC9 ENTREZGENE
  Q6ZUB1 ENTREZGENE
  Q8NA41 ENTREZGENE
  Q8ND27 ENTREZGENE
  S31E1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RPB1 UniProtKB/Swiss-Prot
  Q5SQC9 UniProtKB/Swiss-Prot
  Q8NA41 UniProtKB/Swiss-Prot
  Q8ND27 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 SPATA31E1  SPATA31 subfamily E member 1    SPATA31 subfamily E, member 1  Symbol and/or name change 5135510 APPROVED
2012-10-16 SPATA31E1  SPATA31 subfamily E, member 1  FAM75E1  family with sequence similarity 75, member E1  Symbol and/or name change 5135510 APPROVED
2012-03-27 FAM75E1  family with sequence similarity 75, member E1  C9orf79  chromosome 9 open reading frame 79  Symbol and/or name change 5135510 APPROVED