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Gene: SPATA31E1 (SPATA31 subfamily E member 1) Homo sapiens

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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

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

SPATA31E2P SPATA31E3P

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	87,882,877 - 87,888,903 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	87,882,877 - 87,888,903 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	90,497,792 - 90,503,818 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	89,687,592 - 89,693,634 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	87,727,325 - 87,733,366	NCBI
Celera	9	61,066,984 - 61,073,026 (+)	NCBI		Celera
Cytogenetic Map	9	q22.1	NCBI
HuRef	9	60,320,898 - 60,326,940 (+)	NCBI		HuRef
CHM1_1	9	90,645,791 - 90,651,833 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	100,036,904 - 100,042,930 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

FR900359 (EXP)

lipopolysaccharide (EXP)

propanal (EXP)

resveratrol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

spermatogenesis (IEA)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	87,882,877 - 87,888,903 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	87,882,877 - 87,888,903 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	90,497,792 - 90,503,818 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	89,687,592 - 89,693,634 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	87,727,325 - 87,733,366	NCBI
Celera	9	61,066,984 - 61,073,026 (+)	NCBI		Celera
Cytogenetic Map	9	q22.1	NCBI
HuRef	9	60,320,898 - 60,326,940 (+)	NCBI		HuRef
CHM1_1	9	90,645,791 - 90,651,833 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	100,036,904 - 100,042,930 (+)	NCBI		T2T-CHM13v2.0

Spata31e1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	49,938,173 - 49,943,728 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	49,938,241 - 49,952,477 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	49,783,969 - 49,790,252 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	49,784,765 - 49,799,001 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	49,880,134 - 49,885,569 (-)	MERGE	GRCm37	MGSCv37	mm9	NCBIm37
Celera	13	50,874,609 - 50,880,263 (-)	NCBI		Celera
Cytogenetic Map	13	A5	NCBI

Spata31e1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	38,594,738 - 38,600,395 (-)	NCBI		GRCr8
mRatBN7.2	9	31,098,557 - 31,104,212 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	31,098,260 - 31,104,196 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	9	35,289,422 - 35,295,479 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	35,289,443 - 35,295,041 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	34,098,837 - 34,104,860 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	9	28,565,043 - 28,570,937 (-)	NCBI		Celera
Cytogenetic Map	9	q21	NCBI

SPATA31E1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	11	51,567,637 - 51,573,741 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	51,570,028 - 51,576,132 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	58,977,949 - 58,984,053 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	87,029,053 - 87,034,983 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	87,029,053 - 87,034,983 (+)	Ensembl	panpan1.1		panPan2

LOC102155374
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	94,097,900 - 94,103,836 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	94,540,712 - 94,546,642 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	94,690,182 - 94,696,112 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	1	94,321,054 - 94,326,983 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	94,046,052 - 94,051,982 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	94,808,665 - 94,814,595 (-)	NCBI		UU_Cfam_GSD_1.0

LOC102166000
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	1	195,848,865 - 195,855,281 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	218,133,403 - 218,139,913 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SPATA31E1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	102,642,087 - 102,644,541 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666038	90,901,443 - 90,907,417 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in SPATA31E1
145 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	not specified [RCV004599470]	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
NM_178828.5(SPATA31E1):c.1345G>A (p.Glu449Lys)	single nucleotide variant	not specified [RCV004679303]	Chr9:87885832 [GRCh38] Chr9:90500747 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.772C>A (p.Pro258Thr)	single nucleotide variant	not specified [RCV004679304]	Chr9:87885259 [GRCh38] Chr9:90500174 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.578C>G (p.Ala193Gly)	single nucleotide variant	not specified [RCV004672885]	Chr9:87885065 [GRCh38] Chr9:90499980 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.1736G>C (p.Arg579Thr)	single nucleotide variant	not specified [RCV004672887]	Chr9:87886223 [GRCh38] Chr9:90501138 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.3869G>C (p.Gly1290Ala)	single nucleotide variant	not specified [RCV004672888]	Chr9:87888356 [GRCh38] Chr9:90503271 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.1954G>A (p.Asp652Asn)	single nucleotide variant	not specified [RCV004672889]	Chr9:87886441 [GRCh38] Chr9:90501356 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.3370G>T (p.Gly1124Cys)	single nucleotide variant	not specified [RCV004672875]	Chr9:87887857 [GRCh38] Chr9:90502772 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.667G>A (p.Gly223Arg)	single nucleotide variant	not specified [RCV004672876]	Chr9:87885154 [GRCh38] Chr9:90500069 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.3233C>T (p.Ala1078Val)	single nucleotide variant	not specified [RCV004672877]	Chr9:87887720 [GRCh38] Chr9:90502635 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.224G>A (p.Gly75Asp)	single nucleotide variant	not specified [RCV004672878]	Chr9:87883115 [GRCh38] Chr9:90498030 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.2225G>A (p.Arg742Lys)	single nucleotide variant	not specified [RCV004672879]	Chr9:87886712 [GRCh38] Chr9:90501627 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.589C>A (p.Pro197Thr)	single nucleotide variant	not specified [RCV004672880]	Chr9:87885076 [GRCh38] Chr9:90499991 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.1156G>A (p.Ala386Thr)	single nucleotide variant	not specified [RCV004672881]	Chr9:87885643 [GRCh38] Chr9:90500558 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.3446C>G (p.Pro1149Arg)	single nucleotide variant	not specified [RCV004672882]	Chr9:87887933 [GRCh38] Chr9:90502848 [GRCh37] Chr9:9q22.1	uncertain significance
NM_178828.5(SPATA31E1):c.4028A>G (p.Asn1343Ser)	single nucleotide variant	not specified [RCV004672883]	Chr9:87888515 [GRCh38] Chr9:90503430 [GRCh37] Chr9:9q22.1	likely benign
NM_178828.5(SPATA31E1):c.3644A>G (p.Gln1215Arg)	single nucleotide variant	not specified [RCV004672884]	Chr9:87888131 [GRCh38] Chr9:90503046 [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 Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	90,498,185 - 90,498,472	UniSTS	GRCh37
Build 36	9	89,688,005 - 89,688,292	RGD	NCBI36
Celera	9	61,067,397 - 61,067,684	RGD
Cytogenetic Map	9	q22.1	UniSTS
HuRef	9	60,321,311 - 60,321,598	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
235	1010	455	321	1418	325	562	115	383	84	486	1606	1128	13	1131	246	743	375	31

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_178828	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK093185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL772337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006860	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044793	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000325643 ⟹ ENSP00000322640

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	87,882,877 - 87,888,903 (+)	Ensembl

RefSeq Acc Id:

NM_178828 ⟹ NP_849150

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	87,882,877 - 87,888,903 (+)	NCBI
GRCh37	9	90,497,772 - 90,503,814 (+)	RGD
Build 36	9	89,687,592 - 89,693,634 (+)	NCBI Archive
Celera	9	61,066,984 - 61,073,026 (+)	RGD
HuRef	9	60,320,898 - 60,326,940 (+)	RGD
CHM1_1	9	90,645,791 - 90,651,833 (+)	NCBI
T2T-CHM13v2.0	9	100,036,904 - 100,042,930 (+)	NCBI

Sequence:

show sequence

AGTTGCTTGAAGGCGATGGGAAATCTCGTCATCCCTCTAGGGAAGGGCAGGGCAGGCAGGGTTG
AGAGTGGGCAGAGGATTCCACCCCCAGCTCCCAGACCATCTGTGGAGTGCACAGGAGACGACAT
TGCACTTCAGATGGAGAAAATGCTCTTTCCTCTGAAGAGCCCTAGTGCCACATGGCTGAGCCCT
AGCTCCACTCCCTGGATGATGGATTTCATCCTCACCAGTGTGTGTGGCCTAGTGCTCCTCTTCC
TATTGCTCCTCTACGTCCACAGTGACCCACCCTCACCCCCGCCCGGGAGGAAGAGGAGCAGCAG
GGAGCCTCAAAGGGAGAGAAGCGGGAGGTCCAGGAGCAGGAAGATCTCAGCTCTGAAAGCTTGC
AGAATCCTCCTGAGGGAGCTGGAGGAGACTCGGGACCTGAACTACCTTCTGGAAAGCCACCTGA
GGAAGCTCGCTGGCGAAGGCAGCTCCCACCTGCCCTTAGGTGGAGACCCCCTGGGGGACGTGTG
TAAACCAGTGCCTGCTAAGGCCCACCAGCCGCATGGGAAATGCATGCAAGATCCGTCTCCTGCC
AGCTTGTCCCCACCAGCTCCCCCAGCTCCTCTGGCCTCCACCCTGTCACCAGGCCCGATGACCT
TCTCAGAGCCTTTTGGACCACACTCAACCCTGAGTGCCTCCGGGCCACCAGAGCCCTTGCTTCC
CCTAAAATGCCCTGCAACCCAGCCACATGTGGTTTTTCCTCCTTCACCACAGCCGCATGGTCCC
CTGGCCTCCTCTCCACCTCCACCCGACTCCAGCCTGGCTGGACTTCAGTGTGGCTCCACAACAT
GCCCCGTCCCCCAGAGCTCCCCTCTACACAACCAGGTGCTGCCTCCTCCAACCAGGGTGATCTC
TGGCCTGGGGTGCTCCAGCGATCCCATCTGGGACCTCTATTGCTGGAGGGAGGCTGCCACCACC
TGGGGCCTCTCCACCTACTCACATGGCAAATCCCAGCCACGGCATCTTCCCGACCACACCTCAG
AGGCTTCCTTCTGGGGAGACCCCACACCCAAGCACATGGAGGTAGGTGGCTGCACATTCATCCA
CCCTGACGTGCAGAAGCTGCTGGAGACCCTCATCGCCAAGAGAGCACTGATGAAGATGTGGCAG
GAGAAAGAAAGAAAACGGGCCGACCACCCGCACATGACATCACTGGGGAAGGAGTGGGACATCA
CGACCCTAAATCCCTTCTGGAACGTGTCAACCCAGCCACAGCAGCTGCCCCGTCCTCAGCAAGT
CTCTGATGCCACAACCGTGGGGAACCACTTACAGCAGAAACGCAGCCAGCTTTTCTGGGACCTC
CCCTCTCTCAATAGCGAGTCCCTGGCGACCACAGTCTGGGTTTCTAGGAACCCTTCCTCACAGA
ATGCACACTCTGTACCACTGGATAAAGCCTCCACTTCTCTTCCAGGTGAACCTGAGGTTGAGGC
ATCCTCACAGCTTTCCCAGGCACCGCCCCAGCCCCACCACATGGCCCAGCCCCAACATTTCACT
CCAGCCTGGCCCCAGTCCCAGCCCCCACCTTTGGCTGAGATCCAGACCCAGGCCCACCTCTCAC
CCCCTGTCCCAAGCCTGGGGTGCTCTTCTCCACCCCAGATTAGGGGCTGTGGGGCATCTTACCC
TACATCCCAGGAGAGGACACAGTCTGTCATCCCCACTGGAAAGGAGTATCTTGAATGGCCCTTG
AAGAAGCGACCAAAGTGGAAGAGGGTTTTGCCCTCTCTCCTCAAAAAGTCTCAGGCTGTTCTGA
GCCAGCCCACTGCCCACCTTCCCCAAGAGAGGCCGGCCTCCTGGAGCCCCAAGTCAGCCCCCAT
CCTTCCCGGGGTTGTCACCAGCCCTGAGCTCCCAGAGCACTGGTGGCAAGGAAGGAATGCCATC
CACCAGGAGCAGTCCTGTGGCCCTCCCAGCAGATTGCAGGCATCTGGGGACCTGCTACAGCCTG
ATGGGGAATTCCCAGGGAGGCCCCAGAGTCAGGCAGAAGACACGCAGCAGGCCCTCTTGCCCTC
CCAGCCTTCTGACTTTGCAGGGAAGGGCAGGAAGGATGTGCAGAAGACCGGGTTCAGGAGCTCC
GGAAGGTTCTCTGACAAGGGGTGCTTAGGGTCCAAACTAGGGCCGGACCCAAGCCGGGATCAAG
GCTCAGGAAGGACCTCAGTGAAGGCTCTGGACGAAGACAAGGAGGCAGAAGGTGACTTACGGAG
GTCCTGGAAGTACCAATCAGTAAGTTCCACACCCAGGGACCCAGACAAGGAGCATCTGGAAAAC
AAGCTGCAAATCCATCTGGCCAGGAAGGTAGGGGAGATCAAAGAGGGCTGGATCCCCATGCCTG
TGCGTCGCTCCTGGCTCATGGCCAAATGTGCTGTTCCCAAGTCTGACACCCACAGGAAACCTGG
GAAGCTGGCATCCTGGAGGGGTGGGAAAGCCCACGTGAACACCTCCCAGGAGCTTTCCTTCCTC
CATCCCTGCACCCAGCAGATACTGGAAGTACATCTTGTAAGGTTCTGTGTGAGGCACAGCTGGG
GTACAGACCTCCAGTCCCTGGAGCCCATAAATGTCTGGTCAGGTGAGGCTCAGGCCCCGCCCTT
CCCACAATCCACCTTTACCCCCTGGGCCTCCTGGGTATCTCGGGTTGAATCTGTACCCAAGGTT
CCCATTTTCCTGGGAAAACGTCCTCAGAATGGTCCAGGAGACAACAGAACAACAAGCAAGTCAG
TCCCGACCGTGAGTGGCCCTCTCGCTGCCCCACCGCCTGAGCAGGAGGGAGTCCAGAGGCCCCC
GAGAGGGTCCCAGTCAGCTGATACCCATGGGCGATCAGAGGCCTTTCCGACTGGACACAAGGGC
AGGGGGTGTTCTCAGCCCCCAACATGCAGCCTTGTGGGCAGAACCTGGCAGAGCAGGACTGTCC
TGGAATCCGGGAAACCCAAACCCAGACTAGAGGGGAGTATGGGTTCAGAAATGGCTGGGAACGA
GGCATGGCTTGAGAGTGAGAGCATGTCCCCAGGAGACCCCTGTAGTAGCAGAGCCCTGCAAGTG
CTCAGCATAGGGTCCCAGTGGGCAAGGGCTGAAGATGCCCTGCAGGCACTGAAAGTGGGGGAGA
AGCCCCCAACTTGGGAAGTCACCTTGGGAGCCAGTGTGAGGGCAAGTTCGGGAAGTGTTCAGGA
GGATCTGAGGAGCACAGGGGCTCTGGGGACCACTGGTAACCCCTCAGCGTCTTCAGTCTGTGTT
GCTCAGGATCCAGAGCAGCTGCACCTGAAAGCGCAGGTGGTCAGTGAGATTGCGCTCATAGTGC
AGGTGGACTCAGAGGAGCAGCTGCCAGGCCGTGCCCCGGGCATCCTCCTCCAGGACGGCGCCAC
AGGCCTGTGCCTTCCAGGCCGCCACATGGACATGCTCACTGCCGCAGACAGGCTGCCCACTCAA
GCCCCTCTGTCCACCTCCCAGAGTGTGTCTGGTAAGAACATGACAGCTTCCCAGGGGCCATGTG
CCCTCCTATGGAAGGGAGGGGACAGTCCAGGGCAGCAGGAGCCTGGGAGCCCAAAAGCAAAGGC
CCCACAGAAGAGTCAGAAGACGCTGGGCTGTGCGGACAAGGGCGAGGCCCACAGGAGGCCCAGA
ACAGGGGAGCAGGGACACAGGTCCAAGGGACCCAGGACCTCTGAAGCCAGTGGGAGGAGCCACC
CTGCCCAAGCCAGGGAAATAGGAGACAAACAAGAAAGGAAATACAACCAGCTTCAGCTGGAGAA
GGGACAGACACCACCAGAAAGCCACTTCCAGAGAAAGATCAGTCACCATCCACAGGGTCTACAC
CCCAGGAAAGGAGGCACACGGTGGGAAGATGTCCTGCAGAAAGGCAAGCCTGGGGCAGATGCTT
TCCAGAGCTGGGGGTCTGGCCCACCAAGGCAGTTTATGGACTGCATGGCTGACAAAGCCTGGAC
CATCAGCAGAGTTGTGGGACAAATCCTGGTGGACAAACTGGGGCTTCAGTGGGGACGAGGTCCC
TCAGAGGTCAATCGCCACAAAGGTGACTTCCGCGCCCAGGAGAATGTGCCTTCCTGCTGCCACA
GGGGTCACTGCCACCAAGAACGTAGCAGAGAGATGAGAGCTCTGGCCTGCAGCCCTAAAGCCAC
CCCCAAGGGCCACCACTGTCCTGTCAAAAACAGGGGCATCAGAGACAGAGACAGCAGTTGGGCC
CCACCTCCCAGGGAGCCTGTGTCCCCAGCTGGTCCCCACCACCACAGGCCAAGAATGGCAAGCA
CCTCGGGCGGCCCCCATCCACAGCTGCAGGAACTGATGTCTGCACAGAGGTGTCTTGCCTCCTG
AACTAGACCAGTCTTCTTGCATGTCTCCTGGGGGAGACAGGGGGTTCTACTCAAATAAAACTGA
TGCCTACACAATAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_849150	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI37350	(Get FASTA)	NCBI Sequence Viewer
	BAC04087	(Get FASTA)	NCBI Sequence Viewer
	BAC04096	(Get FASTA)	NCBI Sequence Viewer
	BAC86315	(Get FASTA)	NCBI Sequence Viewer
	CAD39098	(Get FASTA)	NCBI Sequence Viewer
	CBH19235	(Get FASTA)	NCBI Sequence Viewer
	CBH30726	(Get FASTA)	NCBI Sequence Viewer
	EAW62739	(Get FASTA)	NCBI Sequence Viewer
	EAW62740	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000322640
	ENSP00000322640.5
GenBank Protein	Q6ZUB1	(Get FASTA)	NCBI Sequence Viewer

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:

show sequence

MGNLVIPLGKGRAGRVESGQRIPPPAPRPSVECTGDDIALQMEKMLFPLKSPSATWLSPSSTPW
MMDFILTSVCGLVLLFLLLLYVHSDPPSPPPGRKRSSREPQRERSGRSRSRKISALKACRILLR
ELEETRDLNYLLESHLRKLAGEGSSHLPLGGDPLGDVCKPVPAKAHQPHGKCMQDPSPASLSPP
APPAPLASTLSPGPMTFSEPFGPHSTLSASGPPEPLLPLKCPATQPHVVFPPSPQPHGPLASSP
PPPDSSLAGLQCGSTTCPVPQSSPLHNQVLPPPTRVISGLGCSSDPIWDLYCWREAATTWGLST
YSHGKSQPRHLPDHTSEASFWGDPTPKHMEVGGCTFIHPDVQKLLETLIAKRALMKMWQEKERK
RADHPHMTSLGKEWDITTLNPFWNVSTQPQQLPRPQQVSDATTVGNHLQQKRSQLFWDLPSLNS
ESLATTVWVSRNPSSQNAHSVPLDKASTSLPGEPEVEASSQLSQAPPQPHHMAQPQHFTPAWPQ
SQPPPLAEIQTQAHLSPPVPSLGCSSPPQIRGCGASYPTSQERTQSVIPTGKEYLEWPLKKRPK
WKRVLPSLLKKSQAVLSQPTAHLPQERPASWSPKSAPILPGVVTSPELPEHWWQGRNAIHQEQS
CGPPSRLQASGDLLQPDGEFPGRPQSQAEDTQQALLPSQPSDFAGKGRKDVQKTGFRSSGRFSD
KGCLGSKLGPDPSRDQGSGRTSVKALDEDKEAEGDLRRSWKYQSVSSTPRDPDKEHLENKLQIH
LARKVGEIKEGWIPMPVRRSWLMAKCAVPKSDTHRKPGKLASWRGGKAHVNTSQELSFLHPCTQ
QILEVHLVRFCVRHSWGTDLQSLEPINVWSGEAQAPPFPQSTFTPWASWVSRVESVPKVPIFLG
KRPQNGPGDNRTTSKSVPTVSGPLAAPPPEQEGVQRPPRGSQSADTHGRSEAFPTGHKGRGCSQ
PPTCSLVGRTWQSRTVLESGKPKPRLEGSMGSEMAGNEAWLESESMSPGDPCSSRALQVLSIGS
QWARAEDALQALKVGEKPPTWEVTLGASVRASSGSVQEDLRSTGALGTTGNPSASSVCVAQDPE
QLHLKAQVVSEIALIVQVDSEEQLPGRAPGILLQDGATGLCLPGRHMDMLTAADRLPTQAPLST
SQSVSGKNMTASQGPCALLWKGGDSPGQQEPGSPKAKAPQKSQKTLGCADKGEAHRRPRTGEQG
HRSKGPRTSEASGRSHPAQAREIGDKQERKYNQLQLEKGQTPPESHFQRKISHHPQGLHPRKGG
TRWEDVLQKGKPGADAFQSWGSGPPRQFMDCMADKAWTISRVVGQILVDKLGLQWGRGPSEVNR
HKGDFRAQENVPSCCHRGHCHQERSREMRALACSPKATPKGHHCPVKNRGIRDRDSSWAPPPRE
PVSPAGPHHHRPRMASTSGGPHPQLQELMSAQRCLAS

hide sequence

Ensembl 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 Assembly	Chr	Position (strand)	Source
GRCh38	9	87,882,877 - 87,882,937	EPDNEW

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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