SLC35G5 (solute carrier family 35 member G5)

Gene: SLC35G5 (solute carrier family 35 member G5) Homo sapiens

Analyze

Symbol:

SLC35G5

Name:

solute carrier family 35 member G5

RGD ID:

1605928

HGNC Page

HGNC:15546

Description:

Predicted to be located in membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

acyl-malonyl condensing enzyme 1-like 2; acyl-malonyl-condensing enzyme 1-like protein 2; AMAC; AMAC1L2; solute carrier family 35, member G5

RGD Orthologs

Bonobo

Alliance Genes

More Info

more info ...

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	8	11,331,012 - 11,332,360 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	11,331,012 - 11,332,360 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	11,188,521 - 11,189,869 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	11,225,905 - 11,227,105 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	10,316,520 - 10,317,720 (+)	NCBI		Celera
Cytogenetic Map	8	p23.1	NCBI
HuRef	8	10,118,657 - 10,119,857 (+)	NCBI		HuRef
CHM1_1	8	11,253,789 - 11,254,989 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	8,406,654 - 8,408,002 (-)	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

genetic disease (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

aristolochic acid A (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

kojic acid (EXP)

resveratrol (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

membrane (IBA,IEA)

Molecular Function

protein binding (IPI)

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:11896452	PMID:12477932	PMID:17101974	PMID:19060906	PMID:20160193	PMID:20571754	PMID:20972250	PMID:21873635	PMID:32296183

Genomics

Comparative Map Data

SLC35G5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	11,331,012 - 11,332,360 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	11,331,012 - 11,332,360 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	11,188,521 - 11,189,869 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	11,225,905 - 11,227,105 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	10,316,520 - 10,317,720 (+)	NCBI		Celera
Cytogenetic Map	8	p23.1	NCBI
HuRef	8	10,118,657 - 10,119,857 (+)	NCBI		HuRef
CHM1_1	8	11,253,789 - 11,254,989 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	8,406,654 - 8,408,002 (-)	NCBI		T2T-CHM13v2.0

SLC35G5
(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	7	27,798,804 - 27,803,084 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	3,822,965 - 3,828,546 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	7,870,144 - 7,871,699 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

Variants

Variants in SLC35G5
21 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000050297]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1	pathogenic
GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	copy number gain	See cases [RCV000050806]	Chr8:11112581..11948451 [GRCh38] Chr8:10970091..11805960 [GRCh37] Chr8:11007501..11843369 [NCBI36] Chr8:8p23.1	uncertain significance
GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	copy number loss	See cases [RCV000050658]	Chr8:8222339..12383643 [GRCh38] Chr8:8079861..12241152 [GRCh37] Chr8:8117271..12285523 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	copy number gain	See cases [RCV000051192]	Chr8:7411297..12182465 [GRCh38] Chr8:7268819..12039974 [GRCh37] Chr8:7256229..12077383 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	copy number gain	See cases [RCV000052154]	Chr8:9970431..11984392 [GRCh38] Chr8:9827941..11841901 [GRCh37] Chr8:9865351..11879310 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:10056979-11573632)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052155]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052155]\|See cases [RCV000052155]	Chr8:10056979..11573632 [GRCh38] Chr8:9914489..11431141 [GRCh37] Chr8:9951899..11468550 [NCBI36] Chr8:8p23.1	uncertain significance
GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	copy number gain	See cases [RCV000052156]	Chr8:10094463..11518412 [GRCh38] Chr8:9951973..11375921 [GRCh37] Chr8:9989383..11413330 [NCBI36] Chr8:8p23.1	uncertain significance
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	copy number loss	See cases [RCV000053154]	Chr8:7195664..12383643 [GRCh38] Chr8:7053186..12241152 [GRCh37] Chr8:7040596..12285523 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	copy number loss	See cases [RCV000053165]	Chr8:7234837..12514815 [GRCh38] Chr8:7092359..12372324 [GRCh37] Chr8:7079769..12416695 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1	copy number loss	See cases [RCV000053166]	Chr8:7411097..12610175 [GRCh38] Chr8:7268619..12467684 [GRCh37] Chr8:7256029..12512055 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	copy number loss	See cases [RCV000053167]	Chr8:7411297..11961807 [GRCh38] Chr8:7268819..11819316 [GRCh37] Chr8:7256229..11856725 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]\|See cases [RCV000053168]	Chr8:7411297..12546553 [GRCh38] Chr8:7268819..12404062 [GRCh37] Chr8:7256229..12448433 [NCBI36] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8079861-12039974)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053169]	Chr8:8079861..12039974 [GRCh37] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3	copy number gain	See cases [RCV000053482]	Chr8:8222139..12383784 [GRCh38] Chr8:8079661..12241293 [GRCh37] Chr8:8117071..12285664 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:8272908-12182621)x3	copy number gain	See cases [RCV000053483]	Chr8:8272908..12182621 [GRCh38] Chr8:8130430..12040130 [GRCh37] Chr8:8167840..12077539 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	copy number gain	Abnormality of the heart [RCV000053484]\|See cases [RCV000053484]	Chr8:8273108..11948451 [GRCh38] Chr8:8130630..11805960 [GRCh37] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	copy number gain	See cases [RCV000053485]	Chr8:8336212..11984392 [GRCh38] Chr8:8193728..11841901 [GRCh37] Chr8:8231138..11879310 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	copy number loss	See cases [RCV000053486]	Chr8:8336212..11984392 [GRCh38] Chr8:8193728..11841901 [GRCh37] Chr8:8231138..11879310 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	copy number gain	See cases [RCV000053489]	Chr8:8336212..12021806 [GRCh38] Chr8:8193728..11879315 [GRCh37] Chr8:8231138..11916724 [NCBI36] Chr8:8p23.1	pathogenic\|uncertain significance
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	copy number gain	See cases [RCV000053603]	Chr8:241530..17678697 [GRCh38] Chr8:191530..17536206 [GRCh37] Chr8:181530..17580486 [NCBI36] Chr8:8p23.3-22	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	copy number gain	See cases [RCV000053599]	Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	copy number gain	See cases [RCV000053600]	Chr8:96310..12021806 [GRCh38] Chr8:46310..11879315 [GRCh37] Chr8:36310..11916724 [NCBI36] Chr8:8p23.3-23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1	copy number loss	See cases [RCV000054226]	Chr8:9924272..11573632 [GRCh38] Chr8:9781782..11431141 [GRCh37] Chr8:9819192..11468550 [NCBI36] Chr8:8p23.1	pathogenic
NM_054028.1(SLC35G5):c.569C>T (p.Thr190Ile)	single nucleotide variant	Malignant melanoma [RCV000068103]	Chr8:11331675 [GRCh38] Chr8:11189184 [GRCh37] Chr8:11226594 [NCBI36] Chr8:8p23.1	not provided
NM_054028.1(SLC35G5):c.714C>T (p.Leu238=)	single nucleotide variant	Malignant melanoma [RCV000068104]	Chr8:11331820 [GRCh38] Chr8:11189329 [GRCh37] Chr8:11226739 [NCBI36] Chr8:8p23.1	not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	copy number gain	Abnormal fetal cardiovascular morphology [RCV001291977]	Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	copy number loss	See cases [RCV000053169]	Chr8:8222339..12182465 [GRCh38] Chr8:8079861..12039974 [GRCh37] Chr8:8117271..12077383 [NCBI36] Chr8:8p23.1	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	copy number gain	See cases [RCV000053484]	Chr8:8273108..11948451 [GRCh38] Chr8:8130630..11805960 [GRCh37] Chr8:8168040..11843369 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	copy number gain	See cases [RCV000134177]	Chr8:7834379..12182465 [GRCh38] Chr8:7691901..12039974 [GRCh37] Chr8:7729311..12077383 [NCBI36] Chr8:8p23.1	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	copy number loss	See cases [RCV000134092]	Chr8:8545843..11814470 [GRCh38] Chr8:8403353..11671979 [GRCh37] Chr8:8440763..11709388 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	copy number gain	See cases [RCV000134923]	Chr8:8273108..12546553 [GRCh38] Chr8:8130630..12404062 [GRCh37] Chr8:8168040..12448433 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	copy number loss	See cases [RCV000135749]	Chr8:8273108..11948451 [GRCh38] Chr8:8130630..11805960 [GRCh37] Chr8:8168040..11843369 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	copy number loss	See cases [RCV000135775]	Chr8:8273108..12383643 [GRCh38] Chr8:8130630..12241152 [GRCh37] Chr8:8168040..12285523 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	copy number gain	See cases [RCV000136522]	Chr8:7311968..12546553 [GRCh38] Chr8:7169490..12404062 [GRCh37] Chr8:7156900..12448433 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	copy number loss	See cases [RCV000136523]	Chr8:7311968..12546553 [GRCh38] Chr8:7169490..12404062 [GRCh37] Chr8:7156900..12448433 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	copy number gain	See cases [RCV000135967]	Chr8:241530..23198398 [GRCh38] Chr8:191530..23055911 [GRCh37] Chr8:181530..23111856 [NCBI36] Chr8:8p23.3-21.3	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	copy number gain	See cases [RCV000136026]	Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2	pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	copy number loss	See cases [RCV000137505]	Chr8:8253505..12610034 [GRCh38] Chr8:8111027..12467543 [GRCh37] Chr8:8148437..12511914 [NCBI36] Chr8:8p23.1	pathogenic\|likely benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	copy number gain	See cases [RCV000137984]	Chr8:226452..12712987 [GRCh38] Chr8:176452..12570496 [GRCh37] Chr8:166452..12614867 [NCBI36] Chr8:8p23.3-23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	copy number gain	See cases [RCV000137864]	Chr8:8222339..12050329 [GRCh38] Chr8:8079861..11907838 [GRCh37] Chr8:8117271..11945247 [NCBI36] Chr8:8p23.1	likely pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	copy number gain	See cases [RCV000137807]	Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	copy number gain	See cases [RCV000138831]	Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	copy number gain	See cases [RCV000138529]	Chr8:7103661..12299882 [GRCh38] Chr8:6961183..12157391 [GRCh37] Chr8:6948593..12201760 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	copy number loss	See cases [RCV000138559]	Chr8:8253505..12003060 [GRCh38] Chr8:8111027..11860569 [GRCh37] Chr8:8148437..11897978 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	copy number loss	See cases [RCV000138943]	Chr8:3934205..11526939 [GRCh38] Chr8:3791727..11384448 [GRCh37] Chr8:3779135..11421857 [NCBI36] Chr8:8p23.2-23.1	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	copy number gain	See cases [RCV000139891]	Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	copy number gain	See cases [RCV000141410]	Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	copy number gain	See cases [RCV000141418]	Chr8:226452..16280146 [GRCh38] Chr8:176452..16137655 [GRCh37] Chr8:166452..16182026 [NCBI36] Chr8:8p23.3-22	pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	copy number loss	See cases [RCV000141377]	Chr8:8253505..11422633 [GRCh38] Chr8:8111027..11280142 [GRCh37] Chr8:8148437..11317552 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	copy number gain	See cases [RCV000140847]	Chr8:10510192..12003060 [GRCh38] Chr8:10367702..11860569 [GRCh37] Chr8:10405112..11897978 [NCBI36] Chr8:8p23.1	uncertain significance
GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	copy number loss	See cases [RCV000140886]	Chr8:8222339..11984333 [GRCh38] Chr8:8079861..11841842 [GRCh37] Chr8:8117271..11879251 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	copy number loss	See cases [RCV000141976]	Chr8:8235647..12037723 [GRCh38] Chr8:8093169..11895232 [GRCh37] Chr8:8130579..11932641 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	copy number loss	See cases [RCV000142710]	Chr8:8273108..12610034 [GRCh38] Chr8:8130630..12467543 [GRCh37] Chr8:8168040..12511914 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	copy number loss	See cases [RCV000143356]	Chr8:8235647..12077956 [GRCh38] Chr8:8093169..11935465 [GRCh37] Chr8:8130579..11972874 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	copy number gain	See cases [RCV000143280]	Chr8:8235544..12088347 [GRCh38] Chr8:8093066..11945856 [GRCh37] Chr8:8130476..11983265 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	copy number gain	See cases [RCV000143248]	Chr8:226452..12698554 [GRCh38] Chr8:176452..12556063 [GRCh37] Chr8:166452..12600434 [NCBI36] Chr8:8p23.3-23.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	copy number loss	See cases [RCV000148286]	Chr8:8222339..12182465 [GRCh38] Chr8:8079861..12039974 [GRCh37] Chr8:8117271..12077383 [NCBI36] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000148252]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	copy number gain	See cases [RCV000240124]	Chr8:158991..13304906 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8127723-11858461)x1	copy number loss	See cases [RCV000203433]	Chr8:8127723..11858461 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1	copy number loss	Premature ovarian failure [RCV000225350]	Chr8:8131816..12249050 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:10815348-11860230)x3	copy number gain	See cases [RCV000239878]	Chr8:10815348..11860230 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3	copy number gain	See cases [RCV000239409]	Chr8:164984..11860845 [GRCh37] Chr8:8p23.3-23.1	pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3	copy number gain	See cases [RCV000449225]	Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11888779)x1	copy number loss	See cases [RCV000446839]	Chr8:8093169..11888779 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11845219)x3	copy number gain	See cases [RCV000446314]	Chr8:8093169..11845219 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3	copy number gain	See cases [RCV000448692]	Chr8:1166068..12570914 [GRCh37] Chr8:8p23.3-23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	copy number gain	See cases [RCV000448695]	Chr8:158991..17536147 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:9144943-11945856)x3	copy number gain	See cases [RCV000448829]	Chr8:9144943..11945856 [GRCh37] Chr8:8p23.1	likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1(chr8:11137243-11188771)x3	copy number gain	See cases [RCV000447727]	Chr8:11137243..11188771 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	copy number loss	See cases [RCV000510201]	Chr8:158048..13309069 [GRCh37] Chr8:8p23.3-22	likely pathogenic
GRCh37/hg19 8p23.1(chr8:10110508-11882401)x3	copy number gain	See cases [RCV000510273]	Chr8:10110508..11882401 [GRCh37] Chr8:8p23.1	likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_054028.2(SLC35G5):c.400C>T (p.Arg134Cys)	single nucleotide variant	Inborn genetic diseases [RCV003278174]	Chr8:11331506 [GRCh38] Chr8:11189015 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.455A>G (p.Gln152Arg)	single nucleotide variant	Inborn genetic diseases [RCV003287884]	Chr8:11331561 [GRCh38] Chr8:11189070 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.884T>C (p.Ile295Thr)	single nucleotide variant	Inborn genetic diseases [RCV003241370]	Chr8:11331990 [GRCh38] Chr8:11189499 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.245C>G (p.Pro82Arg)	single nucleotide variant	Inborn genetic diseases [RCV003267057]	Chr8:11331351 [GRCh38] Chr8:11188860 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:7053186-11805960)x3	copy number gain	See cases [RCV000512636]	Chr8:7053186..11805960 [GRCh37] Chr8:7040596..11843369 [NCBI36] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11881742)x1	copy number loss	See cases [RCV000512227]	Chr8:8093169..11881742 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3	copy number gain	not provided [RCV000683030]	Chr8:6999219..11898980 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	copy number gain	not provided [RCV000683039]	Chr8:158048..13974319 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	copy number gain	not provided [RCV000683041]	Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	copy number gain	not provided [RCV000683042]	Chr8:1825200..24533193 [GRCh37] Chr8:8p23.3-21.2	pathogenic
GRCh37/hg19 8p23.1(chr8:10647782-11898980)x1	copy number loss	not provided [RCV000683007]	Chr8:10647782..11898980 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	copy number gain	not provided [RCV000683037]	Chr8:168483..13147575 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11935465)x1	copy number loss	not provided [RCV000683027]	Chr8:8093169..11935465 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11945855)x3	copy number gain	not provided [RCV000683028]	Chr8:8093065..11945855 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	copy number gain	not provided [RCV000683040]	Chr8:158048..15423270 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8119295-11765719)x3	copy number gain	not provided [RCV000683025]	Chr8:8119295..11765719 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	copy number loss	not provided [RCV000683026]	Chr8:8093169..11898980 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1(chr8:8105359-11859851)x3	copy number gain	not provided [RCV000747347]	Chr8:8105359..11859851 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8111659-11898209)x3	copy number gain	not provided [RCV000747348]	Chr8:8111659..11898209 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:10852164-11256184)x3	copy number gain	not provided [RCV000747394]	Chr8:10852164..11256184 [GRCh37] Chr8:8p23.1	benign
GRCh37/hg19 8p23.1(chr8:8093169-11272546)x1	copy number loss	not provided [RCV001006064]	Chr8:8093169..11272546 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	copy number gain	not provided [RCV000767676]	Chr8:194617..13947374 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8403375-11805960)	copy number loss	Tetralogy of Fallot [RCV000767642]	Chr8:8403375..11805960 [GRCh37] Chr8:8p23.1	pathogenic
NM_054028.2(SLC35G5):c.389C>A (p.Ala130Asp)	single nucleotide variant	Inborn genetic diseases [RCV003247290]	Chr8:11331495 [GRCh38] Chr8:11189004 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	copy number loss	not provided [RCV001006063]	Chr8:8093169..11936001 [GRCh37] Chr8:8p23.1	pathogenic
Single allele	duplication	Neurodevelopmental disorder [RCV000787445]	Chr8:8112589..11967869 [GRCh37] Chr8:8p23.1	likely pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11882913)x3	copy number gain	not provided [RCV000848343]	Chr8:8093065..11882913 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	copy number gain	not provided [RCV000847864]	Chr8:8093065..11945856 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	copy number loss	not provided [RCV000849225]	Chr8:8093169..11898980 [GRCh37] Chr8:8p23.1	pathogenic
NM_054028.2(SLC35G5):c.127G>T (p.Ala43Ser)	single nucleotide variant	Inborn genetic diseases [RCV003268577]	Chr8:11331233 [GRCh38] Chr8:11188742 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1	copy number loss	See cases [RCV001195073]	Chr8:7881478..11860845 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	copy number loss	not provided [RCV000847768]	Chr8:158048..14214722 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	copy number gain	not provided [RCV000846764]	Chr8:8093065..11945856 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093169-11888779)x3	copy number gain	not provided [RCV000848227]	Chr8:8093169..11888779 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	copy number gain	not provided [RCV001006060]	Chr8:6999219..11895232 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1(chr8:8102723-11936107)x3	copy number gain	not provided [RCV000847249]	Chr8:8102723..11936107 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3	copy number gain	not provided [RCV001006062]	Chr8:8093065..11881742 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	copy number loss	Cerebellar ataxia [RCV001251057]	Chr8:176814..11472913 [GRCh37] Chr8:8p23.3-23.1	pathogenic
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p23.1(chr8:8093168-11898980)	copy number gain	Neurodevelopmental delay [RCV002280755]	Chr8:8093168..11898980 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:11147024-11945856)x1	copy number loss	not provided [RCV001260026]	Chr8:11147024..11945856 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	copy number gain	not provided [RCV001827598]	Chr8:158048..11936107 [GRCh37] Chr8:8p23.3-23.1	pathogenic
NC_000008.10:g.(?_9912027)_(11710963_?)dup	duplication	not provided [RCV001928084]	Chr8:9912027..11710963 [GRCh37] Chr8:8p23.1	uncertain significance
NC_000008.10:g.(?_9912027)_(11710963_?)del	deletion	not provided [RCV001990593]	Chr8:9912027..11710963 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	copy number loss	See cases [RCV002286343]	Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12	pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	copy number loss	See cases [RCV002287568]	Chr8:158048..11281408 [GRCh37] Chr8:8p23.3-23.1	pathogenic
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	copy number loss	not provided [RCV002472557]	Chr8:158049..18936715 [GRCh37] Chr8:8p23.3-22	pathogenic
GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	copy number loss	not provided [RCV002472610]	Chr8:8093066..12548732 [GRCh37] Chr8:8p23.1	pathogenic
GRCh37/hg19 8p23.1(chr8:11025325-11250236)x3	copy number gain	not provided [RCV002472478]	Chr8:11025325..11250236 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.55C>A (p.Pro19Thr)	single nucleotide variant	Inborn genetic diseases [RCV002818958]	Chr8:11331161 [GRCh38] Chr8:11188670 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.113A>G (p.Asn38Ser)	single nucleotide variant	Inborn genetic diseases [RCV002754836]	Chr8:11331219 [GRCh38] Chr8:11188728 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.900G>C (p.Met300Ile)	single nucleotide variant	Inborn genetic diseases [RCV002883046]	Chr8:11332006 [GRCh38] Chr8:11189515 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.337C>T (p.Leu113Phe)	single nucleotide variant	Inborn genetic diseases [RCV002951542]	Chr8:11331443 [GRCh38] Chr8:11188952 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.787G>A (p.Ala263Thr)	single nucleotide variant	Inborn genetic diseases [RCV002956743]	Chr8:11331893 [GRCh38] Chr8:11189402 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.529C>G (p.Leu177Val)	single nucleotide variant	Inborn genetic diseases [RCV002807561]	Chr8:11331635 [GRCh38] Chr8:11189144 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.188A>G (p.Gln63Arg)	single nucleotide variant	Inborn genetic diseases [RCV002934139]	Chr8:11331294 [GRCh38] Chr8:11188803 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.406G>T (p.Gly136Cys)	single nucleotide variant	Inborn genetic diseases [RCV002655689]	Chr8:11331512 [GRCh38] Chr8:11189021 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.97C>G (p.Pro33Ala)	single nucleotide variant	Inborn genetic diseases [RCV003178615]	Chr8:11331203 [GRCh38] Chr8:11188712 [GRCh37] Chr8:8p23.1	uncertain significance
NM_054028.2(SLC35G5):c.280C>G (p.Leu94Val)	single nucleotide variant	Inborn genetic diseases [RCV003206938]	Chr8:11331386 [GRCh38] Chr8:11188895 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	copy number gain	8p23.1 duplication syndrome [RCV003329529]	Chr8:7080281..12045269 [GRCh37] Chr8:8p23.1	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	copy number loss	Neurodevelopmental disorder [RCV003327729]	Chr8:449893..23854904 [GRCh38] Chr8:8p23.3-21.2	pathogenic
NM_054028.2(SLC35G5):c.256C>G (p.Leu86Val)	single nucleotide variant	Inborn genetic diseases [RCV003378743]	Chr8:11331362 [GRCh38] Chr8:11188871 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1(chr8:10416502-11323281)x3	copy number gain	not provided [RCV003484721]	Chr8:10416502..11323281 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	copy number gain	not provided [RCV003484718]	Chr8:8093169..14526969 [GRCh37] Chr8:8p23.1-22	pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	copy number gain	not provided [RCV003484713]	Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21	pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	copy number loss	not provided [RCV003482999]	Chr8:158049..11898696 [GRCh37] Chr8:8p23.3-23.1	pathogenic
NM_054028.2(SLC35G5):c.387C>T (p.Asn129=)	single nucleotide variant	not provided [RCV003435453]	Chr8:11331493 [GRCh38] Chr8:11189002 [GRCh37] Chr8:8p23.1	likely benign
GRCh37/hg19 8p23.1(chr8:10783690-11882401)x3	copy number gain	not specified [RCV003986744]	Chr8:10783690..11882401 [GRCh37] Chr8:8p23.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	copy number gain	not specified [RCV003986756]	Chr8:158048..41600696 [GRCh37] Chr8:8p23.3-11.21	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	230
Count of miRNA genes:	221
Interacting mature miRNAs:	230
Transcripts:	ENST00000382435
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

Low

553

381

458

492

273

245

685

759

518

167

Below cutoff

1668

2258

1069

464

1051

322

3344

1707

2878

302

567

934

151

977

2163

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_054028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC270277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF131216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ291677	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC131696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000382435 ⟹ ENSP00000371872

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	11,331,012 - 11,332,360 (+)	Ensembl

RefSeq Acc Id:

NM_054028 ⟹ NP_473369

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	11,331,012 - 11,332,360 (+)	NCBI
GRCh37	8	11,188,495 - 11,189,695 (+)	RGD
Build 36	8	11,225,905 - 11,227,105 (+)	NCBI Archive
Celera	8	10,316,520 - 10,317,720 (+)	RGD
HuRef	8	10,118,657 - 10,119,857 (+)	ENTREZGENE
CHM1_1	8	11,253,789 - 11,254,989 (+)	NCBI
T2T-CHM13v2.0	8	8,406,654 - 8,408,002 (-)	NCBI

Sequence:

show sequence

GAACCCCACCCGCACTCCAATGAGGTCACAATGGCTGGAGCTCTGAGGGGCCCAGGCTCCCTGA
GCCAGGAGGAGAGGAGAAAGTCCAAGGAAAGATGGCTGGCAGTCACCCCTACTTCAACCTGCCT
GACTCCACACACCCATCGCCGCCCTCCGCTCCACCCAGCCTCCGCTGGCACCAGCGCTGCCAGC
CCTCTGGTGCCACCAATGGCCTGCTGGTGGCCCTGCTGGGTGGGGGCCTGCCTGCTGGCTTCGT
GGGCCCCCTTTCTCGTATGGCTTACCAGGGTTCCAACCTGCCCTCGCTGGAGCTGCTCATCTGT
CGATGCCTCTTCCACCTCCCTATTGCCCTGCTACTTAAACTGCGTGGCGACCCCCTTCTGGGAC
CTCCTGACATCCGAGGCTGGGCCTGCTTCTGTGCCCTGCTCAACGTCCTCAGCATTGGATGTGC
CTACAGTGCAGTTCAGGTGGTGCCCGCTGGCAACGCTGCCACTGTTCGCAAAGGTTCTTCCACC
GTATGCTCCGCTGTCCTCACCCTCTGCCTTGAGAGCCAGGGTCTCGGTGGCTACGAGTGGTGTG
GACTGTTGGGCAGCATCCTAGGACTAATCATCATTCTGGGACCTGGACTCTGGACACTACAGGA
GGGGACCACAGGTGTCTACACCACCCTGGGCTATGTGCAGGCTTTCCTGGGAGGCCTGGCGCTG
TCCCTGGGGCTTCTGGTCTATCGTTCTCTGCACTTTCCCTCCTGCCTCCCAACAGTGGCCTTCC
TATCTGGCTTGGTGGGGCTGCTGGGCTGTGTGCCAGGCCTCTTTGTGCTGCAGACCCCCGTGTT
GCCCAGTGACCTCCTGAGTTGGAGTTGTGTGGGGGCAGAGGGGATCCTCGCCTTGGTCTCCTTC
ACATGTGTGGGCTATGCGGTCACCAAGGCCCACCCTGCCCTGGTGTGCGCTGTCCTGCATTCCG
AGGTGGTTGTGGCCCTTATACTGCAGTATTATATGCTCCATGAGACTGTGGCACTTTCTGACAT
CATGGGGGCAGGGGTTGTGCTGGGCAGCATTGCCATCATTACAGCCCGGAACCTCAGCTGTGAG
AGGACAGGGAAGGTGGAGGAGTGAGATAGAACTTGGGAGCCCGGGGGTTGGGAGGGACAGGGAT
AAATAAAGACAAAGACTGAAGACAAAAAAAAAATAAAAGAAAAAAAATAATTATAATAAATCCT
AGGAAAGAGTGAAAGTCTAACTTCCATAGCACATTATAATATTGAGATGTTCAGTTATAATAAA
AATATCACAAAGCATGCAAACAAATGAGAAATCTGGCTTATTTACAGGAATAAAATTAATTGAA
CTATC

hide sequence

Protein Sequences


Protein RefSeqs	NP_473369	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI31697	(Get FASTA)	NCBI Sequence Viewer
	CAC82744	(Get FASTA)	NCBI Sequence Viewer
	EAW65610	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000371872
	ENSP00000371872.5
	ENSP00000495515.1
GenBank Protein	Q96KT7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_473369 ⟸ NM_054028

- UniProtKB:

A2RRL6 (UniProtKB/Swiss-Prot), Q96KT7 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAGSHPYFNLPDSTHPSPPSAPPSLRWHQRCQPSGATNGLLVALLGGGLPAGFVGPLSRMAYQG
SNLPSLELLICRCLFHLPIALLLKLRGDPLLGPPDIRGWACFCALLNVLSIGCAYSAVQVVPAG
NAATVRKGSSTVCSAVLTLCLESQGLGGYEWCGLLGSILGLIIILGPGLWTLQEGTTGVYTTLG
YVQAFLGGLALSLGLLVYRSLHFPSCLPTVAFLSGLVGLLGCVPGLFVLQTPVLPSDLLSWSCV
GAEGILALVSFTCVGYAVTKAHPALVCAVLHSEVVVALILQYYMLHETVALSDIMGAGVVLGSI
AIITARNLSCERTGKVEE

hide sequence

RefSeq Acc Id:

ENSP00000371872 ⟸ ENST00000382435

Protein Domains

EamA

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96KT7-F1-model_v2	AlphaFold	Q96KT7	1-338	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15546	AgrOrtholog
COSMIC	SLC35G5	COSMIC
Ensembl Genes	ENSG00000177710	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000285084	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000382435	ENTREZGENE
	ENST00000382435.5	UniProtKB/Swiss-Prot
	ENST00000646844.3	UniProtKB/Swiss-Prot
GTEx	ENSG00000177710	GTEx
	ENSG00000285084	GTEx
HGNC ID	HGNC:15546	ENTREZGENE
Human Proteome Map	SLC35G5	Human Proteome Map
KEGG Report	hsa:83650	UniProtKB/Swiss-Prot
NCBI Gene	83650	ENTREZGENE
OMIM	615199	OMIM
PANTHER	ACYL-MALONYL CONDENSING ENZYME-RELATED	UniProtKB/Swiss-Prot
	SOLUTE CARRIER FAMILY 35 MEMBER G5-RELATED	UniProtKB/Swiss-Prot
PharmGKB	PA24756	PharmGKB
Superfamily-SCOP	Multidrug resistance efflux transporter EmrE	UniProtKB/Swiss-Prot
UniProt	A2RRL6	ENTREZGENE
	Q96KT7	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A2RRL6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	SLC35G5	solute carrier family 35 member G5		solute carrier family 35, member G5	Symbol and/or name change	5135510	APPROVED
2011-09-01	SLC35G5	solute carrier family 35, member G5	AMAC1L2	acyl-malonyl condensing enzyme 1-like 2	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 - ClinVar