SOX30 (SRY-box transcription factor 30)

Gene: SOX30 (SRY-box transcription factor 30) Homo sapiens

Analyze

Symbol:

SOX30

Name:

SRY-box transcription factor 30

RGD ID:

1602491

HGNC Page

HGNC:30635

Description:

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and beta-catenin binding activity. Involved in negative regulation of Wnt signaling pathway; regulation of transcription by RNA polymerase II; and response to corticosteroid. Located in cytosol and nucleoplasm. Implicated in hepatocellular carcinoma and lung cancer. Biomarker of hepatocellular carcinoma; lung adenocarcinoma; lung non-small cell carcinoma; and lung squamous cell carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

Sox30 protein type II; SRY (sex determining region Y)-box 30; SRY box 30; SRY-box 30; transcription factor SOX-30

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

SOX30P1

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	5	157,625,679 - 157,671,480 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	157,625,679 - 157,671,480 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	157,052,687 - 157,098,488 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	156,985,265 - 157,012,006 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	153,079,301 - 153,106,027 (-)	NCBI		Celera
Cytogenetic Map	5	q33.3	NCBI
HuRef	5	152,141,308 - 152,168,043 (-)	NCBI		HuRef
CHM1_1	5	156,485,413 - 156,512,148 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	158,144,714 - 158,190,505 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

hepatocellular carcinoma (IDA,IEP)

Liver Metastasis (ISO)

lung adenocarcinoma (IEP)

lung cancer (IDA,IMP)

lung metastasis (ISO)

Lung Neoplasms (EXP)

lung non-small cell carcinoma (IEP)

lung squamous cell carcinoma (IEP)

male infertility (IAGP)

Neoplasm Metastasis (IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-dinitrotoluene (ISO)

5-aza-2'-deoxycytidine (EXP,ISO)

arsenous acid (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cocaine (ISO)

deguelin (EXP)

diarsenic trioxide (EXP)

lipopolysaccharide (EXP)

pifithrin-? (EXP)

quercetin (EXP)

resveratrol (EXP)

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

sodium fluoride (ISO)

Theaflavin 3,3'-digallate (EXP)

toluene (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of transcription by RNA polymerase II (IEA,ISS)

negative regulation of Wnt signaling pathway (IMP)

positive regulation of transcription by RNA polymerase II (IEA,ISS)

proacrosomal vesicle fusion (IEA,ISS)

regulation of transcription by RNA polymerase II (IBA,IDA)

response to corticosteroid (IEP)

spermatid development (IEA,ISS)

Cellular Component

chromatin (ISA)

chromocenter (IEA,ISS)

cytoplasm (IDA,IEA)

cytosol (IDA)

intracellular membrane-bounded organelle (IDA)

nucleoplasm (IDA)

nucleus (IBA,IDA,IEA)

Molecular Function

beta-catenin binding (IPI)

DNA binding (IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IDA,IEA,ISS)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IEA,ISS)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IDA)

sequence-specific double-stranded DNA binding (IBA,IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Male infertility (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	SOX30 Inhibits Tumor Metastasis through Attenuating Wnt-Signaling via Transcriptional and Posttranslational Regulation of β-Catenin in Lung Cancer.	Han F, etal., EBioMedicine. 2018 May;31:253-266. doi: 10.1016/j.ebiom.2018.04.026. Epub 2018 May 5.
2.	SOX30, a novel epigenetic silenced tumor suppressor, promotes tumor cell apoptosis by transcriptional activating p53 in lung cancer.	Han F, etal., Oncogene. 2015 Aug 13;34(33):4391-402. doi: 10.1038/onc.2014.370. Epub 2014 Dec 1.
3.	High expression of SOX30 is associated with favorable survival in human lung adenocarcinoma.	Han F, etal., Sci Rep. 2015 Sep 2;5:13630. doi: 10.1038/srep13630.
4.	High expression of SRY-box transcription factor 30 associates with well differentiation, absent lymph node metastasis and predicts longer survival in nonsmall-cell lung cancer patients.	Liu C, etal., Medicine (Baltimore). 2020 May;99(20):e20122. doi: 10.1097/MD.0000000000020122.
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	MicroRNA-645 represses hepatocellular carcinoma progression by inhibiting SOX30-mediated p53 transcriptional activation.	Tao J, etal., Int J Biol Macromol. 2019 Jan;121:214-222. doi: 10.1016/j.ijbiomac.2018.10.032. Epub 2018 Oct 9.

Additional References at PubMed

PMID:8125298	PMID:10359848	PMID:11678506	PMID:12477932	PMID:14702039	PMID:15019997	PMID:15489334	PMID:16189514	PMID:16571642	PMID:18029348	PMID:18436822	PMID:19274049
PMID:21143990	PMID:21516116	PMID:21873635	PMID:21988832	PMID:22990118	PMID:23872309	PMID:25416956	PMID:25609838	PMID:27107014	PMID:28218735	PMID:28473536	PMID:29855376
PMID:29880037	PMID:30358229	PMID:30514297	PMID:31889959	PMID:32157740	PMID:32296183	PMID:32334007

Genomics

Comparative Map Data

SOX30
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	157,625,679 - 157,671,480 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	157,625,679 - 157,671,480 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	157,052,687 - 157,098,488 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	156,985,265 - 157,012,006 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	153,079,301 - 153,106,027 (-)	NCBI		Celera
Cytogenetic Map	5	q33.3	NCBI
HuRef	5	152,141,308 - 152,168,043 (-)	NCBI		HuRef
CHM1_1	5	156,485,413 - 156,512,148 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	158,144,714 - 158,190,505 (-)	NCBI		T2T-CHM13v2.0

Sox30
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	45,869,873 - 45,908,824 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	45,871,137 - 45,908,821 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	45,979,069 - 46,017,992 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	45,980,310 - 46,017,994 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	45,793,812 - 45,831,494 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	45,823,733 - 45,861,417 (+)	NCBI		MGSCv36	mm8
Celera	11	50,569,188 - 50,580,989 (+)	NCBI		Celera
Cytogenetic Map	11	B1.1	NCBI
cM Map	11	27.49	NCBI

Sox30
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	30,918,707 - 30,948,415 (+)	NCBI		GRCr8
mRatBN7.2	10	30,417,499 - 30,446,441 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	30,418,473 - 30,446,453 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	10	31,074,251 - 31,102,211 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	31,074,251 - 31,102,169 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	30,895,749 - 30,923,086 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	31,116,928 - 31,144,665 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	29,871,335 - 29,900,535 (+)	NCBI		Celera
Cytogenetic Map	10	q21	NCBI

Sox30
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955408	11,790,079 - 11,828,962 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	11,790,145 - 11,830,426 (-)	NCBI	ChiLan1.0	ChiLan1.0

SOX30
(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	4	152,814,686 - 152,862,324 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	150,954,233 - 151,001,871 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	153,022,109 - 153,067,734 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	159,642,895 - 159,688,473 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	159,640,126 - 159,737,776 (-)	Ensembl	panpan1.1		panPan2

SOX30
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	52,587,163 - 52,615,945 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	52,587,355 - 52,615,945 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	52,478,213 - 52,507,510 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	53,021,730 - 53,051,044 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	53,022,045 - 53,051,044 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	52,849,219 - 52,878,517 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	52,955,552 - 52,984,862 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	53,473,267 - 53,502,568 (+)	NCBI		UU_Cfam_GSD_1.0

Sox30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	107,051,963 - 107,087,980 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936515	5,458,393 - 5,537,946 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936515	5,501,315 - 5,537,946 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SOX30
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	16	65,642,223 - 65,678,047 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	16	65,642,107 - 65,677,693 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	16	71,494,089 - 71,532,303 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SOX30
(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	23	60,013,384 - 60,038,682 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	60,014,046 - 60,037,997 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	17,546,899 - 17,616,449 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Sox30
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624733	31,774,616 - 31,807,516 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624733	31,774,341 - 31,855,539 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SOX30
47 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	copy number gain	See cases [RCV000051863]	Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3	pathogenic
GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	copy number loss	See cases [RCV000052144]	Chr5:152761187..167248053 [GRCh38] Chr5:152140747..166675058 [GRCh37] Chr5:152120940..166607636 [NCBI36] Chr5:5q33.1-34	pathogenic
GRCh38/hg38 5q33.1-34(chr5:153195314-164014005)x1	copy number loss	See cases [RCV000052145]	Chr5:153195314..164014005 [GRCh38] Chr5:152574874..163441011 [GRCh37] Chr5:152555067..163373589 [NCBI36] Chr5:5q33.1-34	pathogenic
NM_007017.2(SOX30):c.1011G>A (p.Val337=)	single nucleotide variant	Malignant melanoma [RCV000066809]	Chr5:157648853 [GRCh38] Chr5:157075861 [GRCh37] Chr5:157008439 [NCBI36] Chr5:5q33.3	not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	copy number gain	See cases [RCV000133847]	Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3	pathogenic
GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	copy number loss	See cases [RCV000138282]	Chr5:152443869..166104392 [GRCh38] Chr5:151823430..165531397 [GRCh37] Chr5:151803623..165463975 [NCBI36] Chr5:5q33.1-34	pathogenic
GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	copy number loss	See cases [RCV000240059]	Chr5:154886174..169757448 [GRCh37] Chr5:5q33.2-35.1	pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_178424.2(SOX30):c.271G>C (p.Ala91Pro)	single nucleotide variant	not specified [RCV004307940]	Chr5:157651808 [GRCh38] Chr5:157078816 [GRCh37] Chr5:5q33.3	uncertain significance
GRCh37/hg19 5q33.3(chr5:156911673-157225044)x3	copy number gain	not provided [RCV000682603]	Chr5:156911673..157225044 [GRCh37] Chr5:5q33.3	uncertain significance
GRCh37/hg19 5q33.3(chr5:157075079-157134575)x1	copy number loss	not provided [RCV000682604]	Chr5:157075079..157134575 [GRCh37] Chr5:5q33.3	likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3	copy number gain	not provided [RCV000745284]	Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3	pathogenic
NM_178424.2(SOX30):c.198G>A (p.Ala66=)	single nucleotide variant	not provided [RCV000880246]	Chr5:157651881 [GRCh38] Chr5:157078889 [GRCh37] Chr5:5q33.3	benign
NM_178424.2(SOX30):c.1679C>T (p.Ser560Leu)	single nucleotide variant	not provided [RCV000884559]	Chr5:157638431 [GRCh38] Chr5:157065439 [GRCh37] Chr5:5q33.3	benign
NM_178424.2(SOX30):c.339G>C (p.Pro113=)	single nucleotide variant	not provided [RCV000975087]	Chr5:157651740 [GRCh38] Chr5:157078748 [GRCh37] Chr5:5q33.3	benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	copy number gain	Hunter-McAlpine craniosynostosis [RCV002280612]	Chr5:149010383..180719789 [GRCh37] Chr5:5q32-35.3	pathogenic
NM_178424.2(SOX30):c.532T>C (p.Phe178Leu)	single nucleotide variant	not specified [RCV004304302]	Chr5:157651547 [GRCh38] Chr5:157078555 [GRCh37] Chr5:5q33.3	uncertain significance
GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	copy number gain	not provided [RCV000845588]	Chr5:156597181..171166353 [GRCh37] Chr5:5q33.3-35.1	pathogenic
NM_178424.2(SOX30):c.2234A>T (p.Glu745Val)	single nucleotide variant	See cases [RCV003315280]	Chr5:157626368 [GRCh38] Chr5:157053376 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1825A>G (p.Arg609Gly)	single nucleotide variant	not specified [RCV004295993]	Chr5:157638285 [GRCh38] Chr5:157065293 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1619T>C (p.Leu540Pro)	single nucleotide variant	not provided [RCV000908165]	Chr5:157638491 [GRCh38] Chr5:157065499 [GRCh37] Chr5:5q33.3	benign
NM_178424.2(SOX30):c.1688A>C (p.Gln563Pro)	single nucleotide variant	not provided [RCV000956349]	Chr5:157638422 [GRCh38] Chr5:157065430 [GRCh37] Chr5:5q33.3	benign
GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	copy number loss	not provided [RCV001005746]	Chr5:156347980..169959880 [GRCh37] Chr5:5q33.3-35.1	pathogenic
NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys)	single nucleotide variant	Male infertility [RCV001003516]	Chr5:157638560 [GRCh38] Chr5:157065568 [GRCh37] Chr5:5q33.3	likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	copy number loss	not provided [RCV001825167]	Chr5:155970607..162450579 [GRCh37] Chr5:5q33.3-34	not provided
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	copy number gain	not provided [RCV002474507]	Chr5:150535183..172906793 [GRCh37] Chr5:5q33.1-35.2	pathogenic
NM_178424.2(SOX30):c.899C>T (p.Ser300Phe)	single nucleotide variant	not specified [RCV004127806]	Chr5:157651180 [GRCh38] Chr5:157078188 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.197C>T (p.Ala66Val)	single nucleotide variant	not specified [RCV004191549]	Chr5:157651882 [GRCh38] Chr5:157078890 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.179C>G (p.Ala60Gly)	single nucleotide variant	not specified [RCV004147400]	Chr5:157651900 [GRCh38] Chr5:157078908 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.367C>A (p.Pro123Thr)	single nucleotide variant	not specified [RCV004191505]	Chr5:157651712 [GRCh38] Chr5:157078720 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.256G>A (p.Ala86Thr)	single nucleotide variant	not specified [RCV004089104]	Chr5:157651823 [GRCh38] Chr5:157078831 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.367C>T (p.Pro123Ser)	single nucleotide variant	not specified [RCV004086161]	Chr5:157651712 [GRCh38] Chr5:157078720 [GRCh37] Chr5:5q33.3	uncertain significance
GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	copy number loss	not provided [RCV002512289]	Chr5:156786013..162945369 [GRCh37] Chr5:5q33.3-34	likely pathogenic
NM_178424.2(SOX30):c.1690C>G (p.Pro564Ala)	single nucleotide variant	not specified [RCV004191504]	Chr5:157638420 [GRCh38] Chr5:157065428 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.830G>A (p.Gly277Glu)	single nucleotide variant	not specified [RCV004239783]	Chr5:157651249 [GRCh38] Chr5:157078257 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.392T>G (p.Leu131Arg)	single nucleotide variant	not specified [RCV004197100]	Chr5:157651687 [GRCh38] Chr5:157078695 [GRCh37] Chr5:5q33.3	likely benign
NM_178424.2(SOX30):c.1935G>A (p.Met645Ile)	single nucleotide variant	not specified [RCV004192991]	Chr5:157626667 [GRCh38] Chr5:157053675 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1331C>T (p.Ser444Leu)	single nucleotide variant	not specified [RCV004112909]	Chr5:157646693 [GRCh38] Chr5:157073701 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.941C>T (p.Pro314Leu)	single nucleotide variant	not specified [RCV004208786]	Chr5:157651138 [GRCh38] Chr5:157078146 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.2030G>A (p.Ser677Asn)	single nucleotide variant	not specified [RCV004175039]	Chr5:157626572 [GRCh38] Chr5:157053580 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1645A>G (p.Ser549Gly)	single nucleotide variant	not specified [RCV004229677]	Chr5:157638465 [GRCh38] Chr5:157065473 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.905T>G (p.Leu302Arg)	single nucleotide variant	not specified [RCV004098313]	Chr5:157651174 [GRCh38] Chr5:157078182 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.614C>T (p.Ala205Val)	single nucleotide variant	not specified [RCV004130596]	Chr5:157651465 [GRCh38] Chr5:157078473 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1493A>G (p.Gln498Arg)	single nucleotide variant	not specified [RCV004178704]	Chr5:157638617 [GRCh38] Chr5:157065625 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1458G>C (p.Gln486His)	single nucleotide variant	not specified [RCV004200148]	Chr5:157638652 [GRCh38] Chr5:157065660 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1783C>A (p.Pro595Thr)	single nucleotide variant	not specified [RCV004179625]	Chr5:157638327 [GRCh38] Chr5:157065335 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.274G>A (p.Ala92Thr)	single nucleotide variant	not specified [RCV004158809]	Chr5:157651805 [GRCh38] Chr5:157078813 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.38G>T (p.Arg13Leu)	single nucleotide variant	not specified [RCV004080216]	Chr5:157652041 [GRCh38] Chr5:157079049 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1259T>C (p.Val420Ala)	single nucleotide variant	not specified [RCV004164988]	Chr5:157646765 [GRCh38] Chr5:157073773 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.707T>C (p.Val236Ala)	single nucleotide variant	not specified [RCV004218990]	Chr5:157651372 [GRCh38] Chr5:157078380 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.797C>G (p.Thr266Arg)	single nucleotide variant	not specified [RCV004082042]	Chr5:157651282 [GRCh38] Chr5:157078290 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.704T>C (p.Leu235Pro)	single nucleotide variant	not specified [RCV004218989]	Chr5:157651375 [GRCh38] Chr5:157078383 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1257T>A (p.Ser419Arg)	single nucleotide variant	not specified [RCV004251544]	Chr5:157646767 [GRCh38] Chr5:157073775 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.488C>T (p.Ser163Phe)	single nucleotide variant	not specified [RCV004264724]	Chr5:157651591 [GRCh38] Chr5:157078599 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.2074A>T (p.Asn692Tyr)	single nucleotide variant	not specified [RCV004276648]	Chr5:157626528 [GRCh38] Chr5:157053536 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.776G>A (p.Arg259Lys)	single nucleotide variant	not specified [RCV004350584]	Chr5:157651303 [GRCh38] Chr5:157078311 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.265G>C (p.Glu89Gln)	single nucleotide variant	not specified [RCV004347283]	Chr5:157651814 [GRCh38] Chr5:157078822 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.2104C>A (p.His702Asn)	single nucleotide variant	not specified [RCV004347555]	Chr5:157626498 [GRCh38] Chr5:157053506 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.133G>A (p.Ala45Thr)	single nucleotide variant	not specified [RCV004350932]	Chr5:157651946 [GRCh38] Chr5:157078954 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.134C>A (p.Ala45Glu)	single nucleotide variant	not specified [RCV004350933]	Chr5:157651945 [GRCh38] Chr5:157078953 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1044A>G (p.Ala348=)	single nucleotide variant	not provided [RCV003429951]	Chr5:157648820 [GRCh38] Chr5:157075828 [GRCh37] Chr5:5q33.3	likely benign
NM_178424.2(SOX30):c.855A>C (p.Arg285Ser)	single nucleotide variant	not specified [RCV004457617]	Chr5:157651224 [GRCh38] Chr5:157078232 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1418C>T (p.Thr473Ile)	single nucleotide variant	not specified [RCV004457609]	Chr5:157638692 [GRCh38] Chr5:157065700 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1897C>T (p.Arg633Trp)	single nucleotide variant	not specified [RCV004457611]	Chr5:157626705 [GRCh38] Chr5:157053713 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.2148T>G (p.Ile716Met)	single nucleotide variant	not specified [RCV004457613]	Chr5:157626454 [GRCh38] Chr5:157053462 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.70G>C (p.Val24Leu)	single nucleotide variant	not specified [RCV004457616]	Chr5:157652009 [GRCh38] Chr5:157079017 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1463G>C (p.Ser488Thr)	single nucleotide variant	not specified [RCV004457610]	Chr5:157638647 [GRCh38] Chr5:157065655 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.1963A>G (p.Arg655Gly)	single nucleotide variant	not specified [RCV004457612]	Chr5:157626639 [GRCh38] Chr5:157053647 [GRCh37] Chr5:5q33.3	uncertain significance
NM_178424.2(SOX30):c.250C>T (p.Pro84Ser)	single nucleotide variant	not specified [RCV004457614]	Chr5:157651829 [GRCh38] Chr5:157078837 [GRCh37] Chr5:5q33.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	475
Count of miRNA genes:	238
Interacting mature miRNAs:	244
Transcripts:	ENST00000265007, ENST00000311371, ENST00000519442
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

RH93130

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	157,053,378 - 157,053,518	UniSTS	GRCh37
Build 36	5	156,985,956 - 156,986,096	RGD	NCBI36
Celera	5	153,079,992 - 153,080,132	RGD
Cytogenetic Map	5	q33	UniSTS
HuRef	5	152,141,999 - 152,142,139	UniSTS
GeneMap99-GB4 RH Map	5	591.45	UniSTS

SOX30_1458

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	157,052,528 - 157,053,341	UniSTS	GRCh37
Build 36	5	156,985,106 - 156,985,919	RGD	NCBI36
Celera	5	153,079,142 - 153,079,955	RGD
HuRef	5	152,141,149 - 152,141,962	UniSTS

D5S2525

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	157,064,513 - 157,064,683	UniSTS	GRCh37
GRCh37	5	157,064,513 - 157,064,627	UniSTS	GRCh37
Build 36	5	156,997,091 - 156,997,261	RGD	NCBI36
Celera	5	153,091,113 - 153,091,227	UniSTS
Celera	5	153,091,113 - 153,091,283	RGD
Cytogenetic Map	5	q33	UniSTS
HuRef	5	152,153,130 - 152,153,300	UniSTS
HuRef	5	152,153,130 - 152,153,244	UniSTS
Stanford-G3 RH Map	5	5674.0	UniSTS
NCBI RH Map	5	900.5	UniSTS

SOX30

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	157,075,739 - 157,075,836	UniSTS	GRCh37
Celera	5	153,102,338 - 153,102,435	UniSTS
HuRef	5	152,164,354 - 152,164,451	UniSTS

D5S2525

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	5	q33	UniSTS

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

entire extraembryonic component

High

Medium

376

Low

354

198

174

208

114

Below cutoff

2009

2579

1452

412

1305

260

3449

1661

3275

276

804

1354

158

1135

2224

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001308165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_007017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB022083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB022441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC035142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC007288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT585009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000265007 ⟹ ENSP00000265007

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	157,625,679 - 157,652,438 (-)	Ensembl

RefSeq Acc Id:

ENST00000311371 ⟹ ENSP00000309343

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	157,625,679 - 157,652,364 (-)	Ensembl

RefSeq Acc Id:

ENST00000519442 ⟹ ENSP00000427984

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	157,626,175 - 157,671,480 (-)	Ensembl

RefSeq Acc Id:

NM_001308165 ⟹ NP_001295094

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	157,625,679 - 157,671,480 (-)	NCBI
CHM1_1	5	156,485,413 - 156,531,206 (-)	NCBI
T2T-CHM13v2.0	5	158,144,714 - 158,190,505 (-)	NCBI

Sequence:

show sequence

ATATTGGCTGCGGGGAAGGGGACGGGGGCTGTTGGACATGCGTGCAGAGTCCGGCGGCCACGGA
CGCGGTAATATTGTCCCTCGGCATCCGCCGTGGTGAGACCCGGCGCGTTGCTGTGAAGACGGAC
GGGTCTGGAAGAAGTGGGGTGCGGTCATGGAGAAATGTTGTAGAGGGAAGGAACAAAGTCTACT
GTGCATCCAGCAAGGCATACCAGATACTCCCTTCAGTAAGGACAGAAATGGTCATGTGAAGCGA
CCCATGAACGCATTTATGGTTTGGGCAAGGATCCACCGACCAGCACTAGCCAAAGCTAACCCAG
CAGCCAACAATGCAGAAATCAGTGTCCAGCTTGGGTTAGAGTGGAACAAACTTAGTGAAGAACA
AAAGAAACCCTATTACGATGAAGCACAAAAGATTAAGGAAAAGCACAGAGAGGAATTTCCTGGT
TGGGTTTATCAGCCTCGTCCAGGGAAGCGAAAACGATTCCCTCTAAGTGTTTCCAATGTATTTT
CTGGTACCACACAGAATATCATCTCTACAAATCCTACAACAGTTTATCCTTACCGCTCACCTAC
GTACTCTGTGGTAATTCCCAGCCTACAGAATCCCATCACTCATCCAGTTGGTGAAACCTCACCT
GCTATCCAGCTGCCCACACCTGCAGTCCAGAGCCCAAGCCCTGTCACACTTTTCCAGCCCAGCG
TCTCCAGTGCTGCTCAGGTGGCTGTCCAGGATCCAAGTCTACCTGTCTATCCAGCACTCCCACC
CCAACGCTTTACTGGGCCTTCCCAAACAGACACTCATCAGCTGCATTCTGAAGCCACTCACACT
GTGAAGCAACCCACTCCTGTCTCTCTAGAGAGCGCCAACAGGATTTCAAGTAGTGCAAGTACTG
CCCATGCCAGATTTGCAACTTCGACCATCCAACCTCCTAGGGAGTATTCCAGCGTTTCCCCTTG
TCCCAGAAGTGCTCCAATCCCCCAGGCTTCTCCCATTCCACACCCACATGTCTACCAGCCCCCT
CCCCTTGGCCATCCAGCCACACTGTTCGGGACACCACCAAGATTCTCTTTTCATCACCCTTACT
TCCTACCCGGACCTCACTACTTCCCATCAAGTACATGCCCTTACAGTCGGCCTCCCTTTGGCTA
TGGAAATTTTCCGAGTTCAATGCCAGAATGCCTTAGTTATTATGAAGACAGGTACCCAAAACAT
GAGGGTATCTTTTCAACTTTAAATAGAGACTATTCTTTTAGAGACTACTCAAGTGAATGCACAC
ACAGTGAAAATTCTCGGAGTTGTGAGAACATGAATGGAACTTCTTACTATAACAGTCATAGCCA
CAGTGGGGAAGAAAACTTAAACCCTGTGCCTCAGCTGGACATTGGAACCTTGGAGAATGTCTTC
ACAGCCCCGACATCAACTCCTTCTAGCATCCAGCAAGTCAATGTCACCGACAGTGATGAGGAGG
AAGAAGAAAAAGTGCTCAGGGATTTATAATTTTAAAACAAATATGCACAGAAAATAAACATTTC
TTAAAATATATTCTGGGTCAGTTGGTATGAGAAAAAAAAAAGCCTAGAATTCTTTGTTGAAAGT
TTTCAGTCGTGATTTGAGGAGTTAAAACCAAATGCAATTTATGTCTTCATAAAATTTTGATTAG
TGAAACTAGAGTCTGGATGTTTCATTGTAGGAATATTTAAGTTATTAAGTAGTTTAATTTTAAT
GGCTGAAATTTGCATCAACATGTATTATTATTACTTTATCCTGGAACATGCAAAATACTGAAGC
CTCACAGTTGTATGTGAGGGGAAAGGGGAAATAAATCTAGCATAGTGTGATTTTTATTTTATCT
CAGGATACATTTTTTAAATGATTTTTTGTTTGCTTTTTATGTAATACTTATGGATGTTGTCAAT
TTTTGATGTAACATTTTGAAAGTATTTTGACAACTCCTAGTGAACTTGGACTTGGTTGCTAAAT
TTAACTTACACTAATAACCAATTATAAGTTCCAAATGTGTTTTAATGGCACCTGGGTGATTCTT
CAGCTAAATTTAGTCATTTCTGTTTCTAAATATTTTTATCATTTTAAAATATTTTTTTTCCATT
TGGCATACATCGTTCTTTGTTGTAATTAAATAAACATAGATAAAATTGTT

hide sequence

RefSeq Acc Id:

NM_007017 ⟹ NP_008948

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	157,625,679 - 157,652,438 (-)	NCBI
GRCh37	5	157,051,804 - 157,099,138 (-)	NCBI
Build 36	5	156,985,265 - 157,012,006 (-)	NCBI Archive
Celera	5	153,079,301 - 153,106,027 (-)	RGD
HuRef	5	152,141,308 - 152,168,043 (-)	ENTREZGENE
CHM1_1	5	156,485,413 - 156,512,148 (-)	NCBI
T2T-CHM13v2.0	5	158,144,714 - 158,171,469 (-)	NCBI

Sequence:

show sequence

ATTGTCGCAGCTCCGGGTGGGGGAGGGATGACTAAAGACAACGGCTGTAAGAGAACTCCACAAG
AGAGTCAGAACGAAAATGTGCAACAAGTGCGGCGGCTCCTACCATGGCAGGTGATTCGAGGACT
CAGCACGAGGCGAGAGTAGGGACCAGGAAGAGCCGGAAAACCCGCCTGTGATTGGCCGTCCACG
GGTATCGGTCGTTGTGATTGGGTGAGGCCCAGACAGACAGCTGCGTTTTGAACCGCGTAGGGTT
CTGGGTAGCAAAGGCCTTGCAAGGCTCTTAACCGAAAGGGGGAGGGGGAAGGTCGCCAACAAAC
GGCTGAGCTCACAATCCTGGCCGGGGCGTCCCCCTCCCCCATGGAGAGAGCCAGACCCGAGCCG
CCGCCTCAGCCGCGCCCGTTGCGTCCCGCTCCGCCCCCGCTGCCGGTCGAGGGCACCTCCTTTT
GGGCAGCAGCCATGGAGCCCCCTCCGTCGTCTCCCACACTGAGCGCGGCAGCCAGTGCGACCTT
GGCCTCGTCGTGCGGGGAGGCAGTGGCGTCCGGCTTACAGCCCGCGGTGCGGCGGCTGCTGCAG
GTGAAGCCAGAGCAGGTGTTGCTGCTACCACAGCCTCAGGCCCAGAACGAGGAAGCCGCTGCCT
CGTCCGCGCAGGCGCGGCTGTTGCAGTTCAGGCCCGACCTGCGGCTCCTGCAGCCGCCGACAGC
GTCAGACGGCGCCACCTCCAGGCCCGAGTTGCACCCGGTGCAGCCCCTGGCGCTGCATGTCAAG
GCCAAGAAGCAGAAGCTGGGGCCCAGCCTGGATCAGTCAGTGGGGCCTCGAGGGGCCGTCGAAA
CCGGTCCTAGAGCCTCCAGGGTGGTCAAGTTGGAAGGCCCCGGGCCGGCCCTCGGCTACTTCCG
AGGGGACGAGAAGGGCAAGCTGGAGGCGGAGGAGGTCATGAGAGACTCGATGCAAGGCGGGGCA
GGCAAAAGCCCGGCAGCCATCCGAGAAGGTGTGATCAAAACGGAGGAACCCGAGAGACTCCTCG
AGGACTGCAGGCTCGGCGCGGAGCCCGCGTCCAATGGCCTGGTTCATGGCAGCGCGGAGGTCAT
CTTGGCCCCAACGTCCGGTGCCTTTGGGCCGCACCAGCAAGACCTTAGGATCCCTTTGACGCTC
CACACGGTCCCCCCTGGGGCCCGGATCCAGTTTCAGGGAGCTCCGCCTTCAGAGCTGATAAGAT
TGACCAAGGTCCCCCTGACACCAGTGCCTACTAAAATGCAGTCCCTACTGGAGCCTTCTGTAAA
AATTGAAACCAAAGATGTCCCGCTCACCGTGTTGCCCTCAGATGCAGGCATACCAGATACTCCC
TTCAGTAAGGACAGAAATGGTCATGTGAAGCGACCCATGAACGCATTTATGGTTTGGGCAAGGA
TCCACCGACCAGCACTAGCCAAAGCTAACCCAGCAGCCAACAATGCAGAAATCAGTGTCCAGCT
TGGGTTAGAGTGGAACAAACTTAGTGAAGAACAAAAGAAACCCTATTACGATGAAGCACAAAAG
ATTAAGGAAAAGCACAGAGAGGAATTTCCTGGTTGGGTTTATCAGCCTCGTCCAGGGAAGCGAA
AACGATTCCCTCTAAGTGTTTCCAATGTATTTTCTGGTACCACACAGAATATCATCTCTACAAA
TCCTACAACAGTTTATCCTTACCGCTCACCTACGTACTCTGTGGTAATTCCCAGCCTACAGAAT
CCCATCACTCATCCAGTTGTACATGCCCTTACAGTCGGCCTCCCTTTGGCTATGGAAATTTTCC
GAGTTCAATGCCAGAATGCCTTAGTTATTATGAAGACAGGTACCCAAAACATGAGGGTATCTTT
TCAACTTTAAATAGAGACTATTCTTTTAGAGACTACTCAAGTGAATGCACACACAGTGAAAATT
CTCGGAGTTGTGAGAACATGAATGGAACTTCTTACTATAACAGTCATAGCCACAGTGGGGAAGA
AAACTTAAACCCTGTGCCTCAGCTGGACATTGGAACCTTGGAGAATGTCTTCACAGCCCCGACA
TCAACTCCTTCTAGCATCCAGCAAGTCAATGTCACCGACAGTGATGAGGAGGAAGAAGAAAAAG
TGCTCAGGGATTTATAATTTTAAAACAAATATGCACAGAAAATAAACATTTCTTAAAATATATT
CTGGGTCAGTTGGTATGAGAAAAAAAAAAGCCTAGAATTCTTTGTTGAAAGTTTTCAGTCGTGA
TTTGAGGAGTTAAAACCAAATGCAATTTATGTCTTCATAAAATTTTGATTAGTGAAACTAGAGT
CTGGATGTTTCATTGTAGGAATATTTAAGTTATTAAGTAGTTTAATTTTAATGGCTGAAATTTG
CATCAACATGTATTATTATTACTTTATCCTGGAACATGCAAAATACTGAAGCCTCACAGTTGTA
TGTGAGGGGAAAGGGGAAATAAATCTAGCATAGTGTGATTTTTATTTTATCTCAGGATACATTT
TTTAAATGATTTTTTGTTTGCTTTTTATGTAATACTTATGGATGTTGTCAATTTTTGATGTAAC
ATTTTGAAAGTATTTTGACAACTCCTAGTGAACTTGGACTTGGTTGCTAAATTTAACTTACACT
AATAACCAATTATAAGTTCCAAATGTGTTTTAATGGCACCTGGGTGATTCTTCAGCTAAATTTA
GTCATTTCTGTTTCTAAATATTTTTATCATTTTAAAATATTTTTTTTCCATTTGGCATACATCG
TTCTTTGTTGTAATTAAATAAACATAGATAAAATTGTT

hide sequence

RefSeq Acc Id:

NM_178424 ⟹ NP_848511

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	157,625,679 - 157,652,438 (-)	NCBI
GRCh37	5	157,051,804 - 157,099,138 (-)	NCBI
Build 36	5	156,985,265 - 157,012,006 (-)	NCBI Archive
Celera	5	153,079,301 - 153,106,027 (-)	RGD
HuRef	5	152,141,308 - 152,168,043 (-)	ENTREZGENE
CHM1_1	5	156,485,413 - 156,512,148 (-)	NCBI
T2T-CHM13v2.0	5	158,144,714 - 158,171,469 (-)	NCBI

Sequence:

show sequence

ATTGTCGCAGCTCCGGGTGGGGGAGGGATGACTAAAGACAACGGCTGTAAGAGAACTCCACAAG
AGAGTCAGAACGAAAATGTGCAACAAGTGCGGCGGCTCCTACCATGGCAGGTGATTCGAGGACT
CAGCACGAGGCGAGAGTAGGGACCAGGAAGAGCCGGAAAACCCGCCTGTGATTGGCCGTCCACG
GGTATCGGTCGTTGTGATTGGGTGAGGCCCAGACAGACAGCTGCGTTTTGAACCGCGTAGGGTT
CTGGGTAGCAAAGGCCTTGCAAGGCTCTTAACCGAAAGGGGGAGGGGGAAGGTCGCCAACAAAC
GGCTGAGCTCACAATCCTGGCCGGGGCGTCCCCCTCCCCCATGGAGAGAGCCAGACCCGAGCCG
CCGCCTCAGCCGCGCCCGTTGCGTCCCGCTCCGCCCCCGCTGCCGGTCGAGGGCACCTCCTTTT
GGGCAGCAGCCATGGAGCCCCCTCCGTCGTCTCCCACACTGAGCGCGGCAGCCAGTGCGACCTT
GGCCTCGTCGTGCGGGGAGGCAGTGGCGTCCGGCTTACAGCCCGCGGTGCGGCGGCTGCTGCAG
GTGAAGCCAGAGCAGGTGTTGCTGCTACCACAGCCTCAGGCCCAGAACGAGGAAGCCGCTGCCT
CGTCCGCGCAGGCGCGGCTGTTGCAGTTCAGGCCCGACCTGCGGCTCCTGCAGCCGCCGACAGC
GTCAGACGGCGCCACCTCCAGGCCCGAGTTGCACCCGGTGCAGCCCCTGGCGCTGCATGTCAAG
GCCAAGAAGCAGAAGCTGGGGCCCAGCCTGGATCAGTCAGTGGGGCCTCGAGGGGCCGTCGAAA
CCGGTCCTAGAGCCTCCAGGGTGGTCAAGTTGGAAGGCCCCGGGCCGGCCCTCGGCTACTTCCG
AGGGGACGAGAAGGGCAAGCTGGAGGCGGAGGAGGTCATGAGAGACTCGATGCAAGGCGGGGCA
GGCAAAAGCCCGGCAGCCATCCGAGAAGGTGTGATCAAAACGGAGGAACCCGAGAGACTCCTCG
AGGACTGCAGGCTCGGCGCGGAGCCCGCGTCCAATGGCCTGGTTCATGGCAGCGCGGAGGTCAT
CTTGGCCCCAACGTCCGGTGCCTTTGGGCCGCACCAGCAAGACCTTAGGATCCCTTTGACGCTC
CACACGGTCCCCCCTGGGGCCCGGATCCAGTTTCAGGGAGCTCCGCCTTCAGAGCTGATAAGAT
TGACCAAGGTCCCCCTGACACCAGTGCCTACTAAAATGCAGTCCCTACTGGAGCCTTCTGTAAA
AATTGAAACCAAAGATGTCCCGCTCACCGTGTTGCCCTCAGATGCAGGCATACCAGATACTCCC
TTCAGTAAGGACAGAAATGGTCATGTGAAGCGACCCATGAACGCATTTATGGTTTGGGCAAGGA
TCCACCGACCAGCACTAGCCAAAGCTAACCCAGCAGCCAACAATGCAGAAATCAGTGTCCAGCT
TGGGTTAGAGTGGAACAAACTTAGTGAAGAACAAAAGAAACCCTATTACGATGAAGCACAAAAG
ATTAAGGAAAAGCACAGAGAGGAATTTCCTGGTTGGGTTTATCAGCCTCGTCCAGGGAAGCGAA
AACGATTCCCTCTAAGTGTTTCCAATGTATTTTCTGGTACCACACAGAATATCATCTCTACAAA
TCCTACAACAGTTTATCCTTACCGCTCACCTACGTACTCTGTGGTAATTCCCAGCCTACAGAAT
CCCATCACTCATCCAGTTGGTGAAACCTCACCTGCTATCCAGCTGCCCACACCTGCAGTCCAGA
GCCCAAGCCCTGTCACACTTTTCCAGCCCAGCGTCTCCAGTGCTGCTCAGGTGGCTGTCCAGGA
TCCAAGTCTACCTGTCTATCCAGCACTCCCACCCCAACGCTTTACTGGGCCTTCCCAAACAGAC
ACTCATCAGCTGCATTCTGAAGCCACTCACACTGTGAAGCAACCCACTCCTGTCTCTCTAGAGA
GCGCCAACAGGATTTCAAGTAGTGCAAGTACTGCCCATGCCAGATTTGCAACTTCGACCATCCA
ACCTCCTAGGGAGTATTCCAGCGTTTCCCCTTGTCCCAGAAGTGCTCCAATCCCCCAGGCTTCT
CCCATTCCACACCCACATGTCTACCAGCCCCCTCCCCTTGGCCATCCAGCCACACTGTTCGGGA
CACCACCAAGATTCTCTTTTCATCACCCTTACTTCCTACCCGGACCTCACTACTTCCCATCAAG
TACATGCCCTTACAGTCGGCCTCCCTTTGGCTATGGAAATTTTCCGAGTTCAATGCCAGAATGC
CTTAGTTATTATGAAGACAGGTACCCAAAACATGAGGGTATCTTTTCAACTTTAAATAGAGACT
ATTCTTTTAGAGACTACTCAAGTGAATGCACACACAGTGAAAATTCTCGGAGTTGTGAGAACAT
GAATGGAACTTCTTACTATAACAGTCATAGCCACAGTGGGGAAGAAAACTTAAACCCTGTGCCT
CAGCTGGACATTGGAACCTTGGAGAATGTCTTCACAGCCCCGACATCAACTCCTTCTAGCATCC
AGCAAGTCAATGTCACCGACAGTGATGAGGAGGAAGAAGAAAAAGTGCTCAGGGATTTATAATT
TTAAAACAAATATGCACAGAAAATAAACATTTCTTAAAATATATTCTGGGTCAGTTGGTATGAG
AAAAAAAAAAGCCTAGAATTCTTTGTTGAAAGTTTTCAGTCGTGATTTGAGGAGTTAAAACCAA
ATGCAATTTATGTCTTCATAAAATTTTGATTAGTGAAACTAGAGTCTGGATGTTTCATTGTAGG
AATATTTAAGTTATTAAGTAGTTTAATTTTAATGGCTGAAATTTGCATCAACATGTATTATTAT
TACTTTATCCTGGAACATGCAAAATACTGAAGCCTCACAGTTGTATGTGAGGGGAAAGGGGAAA
TAAATCTAGCATAGTGTGATTTTTATTTTATCTCAGGATACATTTTTTAAATGATTTTTTGTTT
GCTTTTTATGTAATACTTATGGATGTTGTCAATTTTTGATGTAACATTTTGAAAGTATTTTGAC
AACTCCTAGTGAACTTGGACTTGGTTGCTAAATTTAACTTACACTAATAACCAATTATAAGTTC
CAAATGTGTTTTAATGGCACCTGGGTGATTCTTCAGCTAAATTTAGTCATTTCTGTTTCTAAAT
ATTTTTATCATTTTAAAATATTTTTTTTCCATTTGGCATACATCGTTCTTTGTTGTAATTAAAT
AAACATAGATAAAATTGTT

hide sequence

Protein Sequences


Protein RefSeqs	NP_001295094	(Get FASTA)	NCBI Sequence Viewer
	NP_008948	(Get FASTA)	NCBI Sequence Viewer
	NP_848511	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH33492	(Get FASTA)	NCBI Sequence Viewer
	BAA37146	(Get FASTA)	NCBI Sequence Viewer
	BAA37149	(Get FASTA)	NCBI Sequence Viewer
	BAG63529	(Get FASTA)	NCBI Sequence Viewer
	CBH19449	(Get FASTA)	NCBI Sequence Viewer
	EAW61593	(Get FASTA)	NCBI Sequence Viewer
	EAW61594	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000265007
	ENSP00000265007.6
	ENSP00000309343
	ENSP00000309343.5
	ENSP00000427984
	ENSP00000427984.1
GenBank Protein	O94993	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_848511 ⟸ NM_178424
- Peptide Label:	isoform a
- UniProtKB:	O94995 (UniProtKB/Swiss-Prot), Q8IYX6 (UniProtKB/Swiss-Prot), O94993 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MERARPEPPPQPRPLRPAPPPLPVEGTSFWAAAMEPPPSSPTLSAAASATLASSCGEAVASGLQ PAVRRLLQVKPEQVLLLPQPQAQNEEAAASSAQARLLQFRPDLRLLQPPTASDGATSRPELHPV QPLALHVKAKKQKLGPSLDQSVGPRGAVETGPRASRVVKLEGPGPALGYFRGDEKGKLEAEEVM RDSMQGGAGKSPAAIREGVIKTEEPERLLEDCRLGAEPASNGLVHGSAEVILAPTSGAFGPHQQ DLRIPLTLHTVPPGARIQFQGAPPSELIRLTKVPLTPVPTKMQSLLEPSVKIETKDVPLTVLPS DAGIPDTPFSKDRNGHVKRPMNAFMVWARIHRPALAKANPAANNAEISVQLGLEWNKLSEEQKK PYYDEAQKIKEKHREEFPGWVYQPRPGKRKRFPLSVSNVFSGTTQNIISTNPTTVYPYRSPTYS VVIPSLQNPITHPVGETSPAIQLPTPAVQSPSPVTLFQPSVSSAAQVAVQDPSLPVYPALPPQR FTGPSQTDTHQLHSEATHTVKQPTPVSLESANRISSSASTAHARFATSTIQPPREYSSVSPCPR SAPIPQASPIPHPHVYQPPPLGHPATLFGTPPRFSFHHPYFLPGPHYFPSSTCPYSRPPFGYGN FPSSMPECLSYYEDRYPKHEGIFSTLNRDYSFRDYSSECTHSENSRSCENMNGTSYYNSHSHSG EENLNPVPQLDIGTLENVFTAPTSTPSSIQQVNVTDSDEEEEEKVLRDL hide sequence

RefSeq Acc Id:	NP_008948 ⟸ NM_007017
- Peptide Label:	isoform b
- UniProtKB:	O94993 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MERARPEPPPQPRPLRPAPPPLPVEGTSFWAAAMEPPPSSPTLSAAASATLASSCGEAVASGLQ PAVRRLLQVKPEQVLLLPQPQAQNEEAAASSAQARLLQFRPDLRLLQPPTASDGATSRPELHPV QPLALHVKAKKQKLGPSLDQSVGPRGAVETGPRASRVVKLEGPGPALGYFRGDEKGKLEAEEVM RDSMQGGAGKSPAAIREGVIKTEEPERLLEDCRLGAEPASNGLVHGSAEVILAPTSGAFGPHQQ DLRIPLTLHTVPPGARIQFQGAPPSELIRLTKVPLTPVPTKMQSLLEPSVKIETKDVPLTVLPS DAGIPDTPFSKDRNGHVKRPMNAFMVWARIHRPALAKANPAANNAEISVQLGLEWNKLSEEQKK PYYDEAQKIKEKHREEFPGWVYQPRPGKRKRFPLSVSNVFSGTTQNIISTNPTTVYPYRSPTYS VVIPSLQNPITHPVVHALTVGLPLAMEIFRVQCQNALVIMKTGTQNMRVSFQL hide sequence

RefSeq Acc Id:	NP_001295094 ⟸ NM_001308165
- Peptide Label:	isoform c
- UniProtKB:	B4DXW7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEKCCRGKEQSLLCIQQGIPDTPFSKDRNGHVKRPMNAFMVWARIHRPALAKANPAANNAEISV QLGLEWNKLSEEQKKPYYDEAQKIKEKHREEFPGWVYQPRPGKRKRFPLSVSNVFSGTTQNIIS TNPTTVYPYRSPTYSVVIPSLQNPITHPVGETSPAIQLPTPAVQSPSPVTLFQPSVSSAAQVAV QDPSLPVYPALPPQRFTGPSQTDTHQLHSEATHTVKQPTPVSLESANRISSSASTAHARFATST IQPPREYSSVSPCPRSAPIPQASPIPHPHVYQPPPLGHPATLFGTPPRFSFHHPYFLPGPHYFP SSTCPYSRPPFGYGNFPSSMPECLSYYEDRYPKHEGIFSTLNRDYSFRDYSSECTHSENSRSCE NMNGTSYYNSHSHSGEENLNPVPQLDIGTLENVFTAPTSTPSSIQQVNVTDSDEEEEEKVLRDL hide sequence

RefSeq Acc Id:

ENSP00000427984 ⟸ ENST00000519442

RefSeq Acc Id:

ENSP00000309343 ⟸ ENST00000311371

RefSeq Acc Id:

ENSP00000265007 ⟸ ENST00000265007

Protein Domains

HMG box

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O94993-F1-model_v2	AlphaFold	O94993	1-753	view protein structure

Promoters

RGD ID:

6803572

Promoter ID:

HG_KWN:51649

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Lymphoblastoid

Transcripts:

NM_007017, NM_178424

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	157,011,206 - 157,011,706 (-)	MPROMDB

RGD ID:

6871416

Promoter ID:

EPDNEW_H8873

Type:

single initiation site

Name:

SOX30_2

Description:

SRY-box 30

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H8875

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	157,672,204 - 157,672,264	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30635	AgrOrtholog
COSMIC	SOX30	COSMIC
Ensembl Genes	ENSG00000039600	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000265007	ENTREZGENE
	ENST00000265007.11	UniProtKB/Swiss-Prot
	ENST00000311371	ENTREZGENE
	ENST00000311371.9	UniProtKB/Swiss-Prot
	ENST00000519442	ENTREZGENE
	ENST00000519442.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.30.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000039600	GTEx
HGNC ID	HGNC:30635	ENTREZGENE
Human Proteome Map	SOX30	Human Proteome Map
InterPro	HMG_box_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HMG_box_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:11063	UniProtKB/Swiss-Prot
NCBI Gene	11063	ENTREZGENE
OMIM	606698	OMIM
PANTHER	TRANSCRIPTION FACTOR SOX-30	UniProtKB/Swiss-Prot
	TRANSCRIPTION FACTOR SOX-30	UniProtKB/Swiss-Prot
	TRANSCRIPTION FACTOR SOX-30	UniProtKB/TrEMBL
	TRANSCRIPTION FACTOR SOX-30	UniProtKB/TrEMBL
Pfam	HMG_box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134876614	PharmGKB
PROSITE	HMG_BOX_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HMG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF47095	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B4DXW7	ENTREZGENE, UniProtKB/TrEMBL
	O94993	ENTREZGENE
	O94995	ENTREZGENE
	Q8IYX6	ENTREZGENE
	SOX30_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	O94995	UniProtKB/Swiss-Prot
	Q8IYX6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-06-18	SOX30	SRY-box transcription factor 30	SOX30	SRY-box 30	Symbol and/or name change	5135510	APPROVED
2015-12-01	SOX30	SRY-box 30	SOX30	SRY box 30	Symbol and/or name change	5135510	APPROVED
2015-11-10	SOX30	SRY box 30	SOX30	SRY (sex determining region Y)-box 30	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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Imported Disease Annotations - CTD

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