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Gene: RNF135 (ring finger protein 135) Homo sapiens

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Symbol:

RNF135

Name:

ring finger protein 135

RGD ID:

1313173

HGNC Page

HGNC:21158

Description:

Enables several functions, including RIG-I binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Involved in several processes, including RIG-I signaling pathway; antiviral innate immune response; and protein-containing complex assembly. Located in cytoplasmic stress granule. Part of ribonucleoprotein complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

E3 ubiquitin-protein ligase RNF135; L13; MGC13061; MMFD; REUL; RIG-I E3 ubiquitin ligase; RING finger protein leading to RIG-I activation; RING-type E3 ubiquitin transferase RNF135; Riplet

RGD Orthologs

Alliance Orthologs

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	17	30,958,921 - 30,999,911 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	30,970,984 - 30,999,911 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	29,298,057 - 29,326,929 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	26,322,082 - 26,351,053 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	26,218,879 - 26,247,850 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	25,508,635 - 25,537,506 (+)	NCBI		HuRef
CHM1_1	17	29,360,522 - 29,390,158 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	31,904,625 - 31,945,638 (+)	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

autism spectrum disorder (IAGP)

cerebral palsy (IAGP)

chromosome 17q11.2 deletion syndrome (EXP,IAGP)

Developmental Disabilities (IAGP)

Growth Disorders (EXP)

neurofibromatosis 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

17beta-estradiol (EXP)

4,4'-sulfonyldiphenol (ISO)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbon nanotube (ISO)

cisplatin (EXP)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

epoxiconazole (ISO)

fenthion (ISO)

lead(0) (EXP)

lipopolysaccharide (ISO)

Monobutylphthalate (ISO)

okadaic acid (ISO)

paracetamol (ISO)

parathion (ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenylmercury acetate (EXP)

progesterone (ISO)

SB 431542 (EXP)

sodium arsenite (EXP)

tetrachloromethane (ISO)

thiram (EXP)

trichostatin A (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

antiviral innate immune response (IMP)

free ubiquitin chain polymerization (IDA)

immune system process (IEA)

innate immune response (IEA,TAS)

positive regulation of interferon-beta production (IMP)

protein homooligomerization (IDA)

protein K63-linked ubiquitination (IDA)

protein polyubiquitination (IDA)

protein ubiquitination (IDA,IEA)

regulation of innate immune response (IBA,IMP)

RIG-I signaling pathway (IDA,IMP)

Cellular Component

cytoplasm (IBA,IDA,IEA)

cytoplasmic stress granule (IDA,IEA)

cytosol (TAS)

ribonucleoprotein complex (IDA)

Molecular Function

identical protein binding (IPI)

metal ion binding (IEA)

protein binding (IPI)

ribonucleoprotein complex binding (IBA,IDA,IPI)

RIG-I binding (IPI)

transferase activity (IEA)

ubiquitin protein ligase activity (IDA,IEA)

ubiquitin-protein transferase activity (EXP,IBA,IDA)

zinc ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cardiovascular system morphology (IAGP)

Abnormal facial shape (IAGP)

Abnormal pulmonary valve morphology (IAGP)

Abnormal sternum morphology (IAGP)

Accelerated skeletal maturation (IAGP)

Aplasia/Hypoplasia of the optic nerve (IAGP)

Autistic behavior (IAGP)

Broad forehead (IAGP)

Broad nasal tip (IAGP)

Cerebral palsy (IAGP)

Cranial asymmetry (IAGP)

Downslanted palpebral fissures (IAGP)

Global developmental delay (IAGP)

Hearing impairment (IAGP)

Intellectual disability, mild (IAGP)

Large for gestational age (IAGP)

Long philtrum (IAGP)

Macrocephaly (IAGP)

Optic nerve hypoplasia (IAGP)

Overgrowth (IAGP)

Pectus carinatum (IAGP)

Pulmonic stenosis (IAGP)

Speech apraxia (IAGP)

Strabismus (IAGP)

Tall stature (IAGP)

Thick lower lip vermilion (IAGP)

Thin upper lip vermilion (IAGP)

Unilateral cryptorchidism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:8125298	PMID:11002417	PMID:11468690	PMID:12477932	PMID:12696059	PMID:14702039	PMID:15334068	PMID:15489334	PMID:16344560	PMID:17392790	PMID:17632510	PMID:18391951
PMID:19017631	PMID:19291764	PMID:19484123	PMID:19881509	PMID:20546612	PMID:21873635	PMID:23950712	PMID:25416956	PMID:26368817	PMID:26496610	PMID:26856755	PMID:27312109
PMID:27992444	PMID:28469175	PMID:28514442	PMID:28718761	PMID:28786561	PMID:30665703	PMID:31006531	PMID:31335993	PMID:32296183	PMID:33373584	PMID:33536170	PMID:33637726
PMID:33961781	PMID:34529741	PMID:35089988	PMID:35913217	PMID:36495591	PMID:38056362	PMID:38154055	PMID:38459884	PMID:39118262

Genomics

Comparative Map Data

RNF135
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	30,958,921 - 30,999,911 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	30,970,984 - 30,999,911 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	29,298,057 - 29,326,929 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	26,322,082 - 26,351,053 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	26,218,879 - 26,247,850 (+)	NCBI		Celera
Cytogenetic Map	17	q11.2	NCBI
HuRef	17	25,508,635 - 25,537,506 (+)	NCBI		HuRef
CHM1_1	17	29,360,522 - 29,390,158 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	31,904,625 - 31,945,638 (+)	NCBI		T2T-CHM13v2.0

Rnf135
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	80,074,652 - 80,090,581 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	80,074,677 - 80,090,583 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	80,183,869 - 80,199,755 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	80,183,851 - 80,199,757 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	79,997,374 - 80,013,255 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	80,000,067 - 80,015,948 (+)	NCBI		MGSCv36	mm8
Celera	11	89,820,069 - 89,836,208 (+)	NCBI		Celera
Cytogenetic Map	11	B5	NCBI
cM Map	11	47.59	NCBI

Rnf135
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	65,668,441 - 65,687,671 (+)	NCBI		GRCr8
mRatBN7.2	10	65,170,560 - 65,189,791 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	65,170,560 - 65,262,804 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	69,799,232 - 69,817,764 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	69,304,574 - 69,323,103 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	64,768,614 - 64,786,942 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	67,531,989 - 67,551,237 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	10	67,189,251 - 67,208,499 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	68,395,227 - 68,413,513 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	68,408,849 - 68,427,136 (+)	NCBI
Celera	10	64,131,815 - 64,150,477 (+)	NCBI		Celera
Cytogenetic Map	10	q25	NCBI

Rnf135
(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	NW_004955481	7,111,760 - 7,122,800 (+)	NCBI	ChiLan1.0	ChiLan1.0

RNF135
(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	19	33,524,236 - 33,553,496 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	35,405,294 - 35,434,580 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	25,843,447 - 25,869,874 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	25,333,945 - 25,358,151 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

RNF135
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	40,794,772 - 40,809,022 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	40,795,297 - 40,808,737 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	39,953,568 - 39,968,051 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	41,611,455 - 41,625,934 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	41,611,461 - 41,625,478 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	40,397,017 - 40,411,493 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	40,691,261 - 40,705,735 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	40,766,155 - 40,780,640 (-)	NCBI		UU_Cfam_GSD_1.0

Rnf135
(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_024405602	39,863,980 - 39,879,138 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936538	2,741,220 - 2,757,240 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936538	2,741,308 - 2,757,042 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RNF135
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	42,795,409 - 42,808,897 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	42,793,755 - 42,808,937 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	44,417,921 - 44,431,466 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RNF135
(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	16	25,677,632 - 25,700,769 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	25,678,197 - 25,700,061 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	4,356,023 - 4,386,697 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rnf135
(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_004624875	220,771 - 232,394 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624875	221,206 - 231,178 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RNF135
95 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter)	single nucleotide variant	Macrocephaly, macrosomia, facial dysmorphism syndrome [RCV000001026]	Chr17:30997289 [GRCh38] Chr17:29324307 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_032322.4(RNF135):c.742del (p.Leu248fs)	deletion	Macrocephaly, macrosomia, facial dysmorphism syndrome [RCV000001027]	Chr17:30997304 [GRCh38] Chr17:29324322 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_032322.4(RNF135):c.1015del (p.Val339fs)	deletion	Autism spectrum disorder [RCV000754673]\|Macrocephaly, macrosomia, facial dysmorphism syndrome [RCV000001028]	Chr17:30998906 [GRCh38] Chr17:29325924 [GRCh37] Chr17:17q11.2	pathogenic\|benign\|uncertain significance
NM_032322.4(RNF135):c.857G>A (p.Arg286His)	single nucleotide variant	Macrocephaly, macrosomia, facial dysmorphism syndrome [RCV000001029]	Chr17:30998749 [GRCh38] Chr17:29325767 [GRCh37] Chr17:17q11.2	pathogenic\|uncertain significance
NM_032322.3(RNF135):c.372+454C>T	single nucleotide variant	Lung cancer [RCV000100411]	Chr17:30971899 [GRCh38] Chr17:29298917 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	copy number gain	See cases [RCV000050717]	Chr17:30706864..31999939 [GRCh38] Chr17:29033882..30326958 [GRCh37] Chr17:26058008..27351071 [NCBI36] Chr17:17q11.2	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	copy number loss	Abnormality of head and neck [RCV000050718]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050719]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050719]\|See cases [RCV000050718]	Chr17:30706864..31999939 [GRCh38] Chr17:29033882..30326958 [GRCh37] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	copy number gain	See cases [RCV000050616]	Chr17:30706864..32099761 [GRCh38] Chr17:29033882..30426780 [GRCh37] Chr17:26058008..27450893 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	copy number gain	See cases [RCV000051881]	Chr17:30630734..32088380 [GRCh38] Chr17:28957752..30415399 [GRCh37] Chr17:25981878..27439512 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	copy number gain	See cases [RCV000051884]	Chr17:30667972..32023858 [GRCh38] Chr17:28994990..30350877 [GRCh37] Chr17:26019116..27374990 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30650145-31015565)x3	copy number gain	See cases [RCV000053134]	Chr17:30650145..31015565 [GRCh38] Chr17:28977163..29342583 [GRCh37] Chr17:26001289..26366709 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30893477-30993653)x3	copy number gain	See cases [RCV000054012]	Chr17:30893477..30993653 [GRCh38] Chr17:29220495..29320671 [GRCh37] Chr17:26244621..26344797 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30613848-31875279)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054360]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054360]\|See cases [RCV000054360]	Chr17:30613848..31875279 [GRCh38] Chr17:28940866..30202298 [GRCh37] Chr17:25964992..27226411 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	copy number loss	See cases [RCV000054361]	Chr17:30672816..31999939 [GRCh38] Chr17:28999834..30326958 [GRCh37] Chr17:26023960..27351071 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	copy number loss	See cases [RCV000054362]	Chr17:30706863..31994624 [GRCh38] Chr17:29033881..30321643 [GRCh37] Chr17:26058007..27345756 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	copy number loss	See cases [RCV000054363]	Chr17:30767194..31937486 [GRCh38] Chr17:29094212..30264505 [GRCh37] Chr17:26118338..27288618 [NCBI36] Chr17:17q11.2	pathogenic
NM_032322.3(RNF135):c.463C>T (p.Gln155Ter)	single nucleotide variant	Malignant melanoma [RCV000063183]	Chr17:30984707 [GRCh38] Chr17:29311725 [GRCh37] Chr17:26335851 [NCBI36] Chr17:17q11.2	not provided
GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	copy number loss	See cases [RCV000050718]	Chr17:30706864..31999939 [GRCh38] Chr17:29033882..30326958 [GRCh37] Chr17:26058008..27351071 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30642544-31005259)x3	copy number gain	See cases [RCV000134461]	Chr17:30642544..31005259 [GRCh38] Chr17:28969562..29332277 [GRCh37] Chr17:25993688..26356403 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30614048-30969331)x1	copy number loss	See cases [RCV000134179]	Chr17:30614048..30969331 [GRCh38] Chr17:28941066..29296349 [GRCh37] Chr17:25965192..26320475 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30706864-31016678)x1	copy number loss	See cases [RCV000137538]	Chr17:30706864..31016678 [GRCh38] Chr17:29033882..29343696 [GRCh37] Chr17:26058008..26367822 [NCBI36] Chr17:17q11.2	likely pathogenic
GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	copy number loss	See cases [RCV000139159]	Chr17:30706845..31999933 [GRCh38] Chr17:29033863..30326952 [GRCh37] Chr17:26057989..27351065 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	copy number loss	See cases [RCV000140221]	Chr17:30684919..32021402 [GRCh38] Chr17:29011937..30348421 [GRCh37] Chr17:26036063..27372534 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30975560-31005259)x3	copy number gain	See cases [RCV000141283]	Chr17:30975560..31005259 [GRCh38] Chr17:29302578..29332277 [GRCh37] Chr17:26326704..26356403 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	copy number loss	See cases [RCV000141687]	Chr17:30666018..32085769 [GRCh38] Chr17:28993036..30412788 [GRCh37] Chr17:26017162..27436901 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3	copy number gain	See cases [RCV000142237]	Chr17:30831320..31322174 [GRCh38] Chr17:29158338..29649192 [GRCh37] Chr17:26182464..26673318 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	copy number gain	See cases [RCV000142123]	Chr17:30677603..32071701 [GRCh38] Chr17:29004621..30398720 [GRCh37] Chr17:26028747..27422833 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	copy number loss	See cases [RCV000142020]	Chr17:30625268..32059496 [GRCh38] Chr17:28952286..30386515 [GRCh37] Chr17:25976412..27410628 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	copy number loss	See cases [RCV000143027]	Chr17:28947825..32490020 [GRCh38] Chr17:27274843..30817038 [GRCh37] Chr17:24298969..27841151 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30599358-31009835)x1	copy number loss	See cases [RCV000143369]	Chr17:30599358..31009835 [GRCh38] Chr17:28926376..29336853 [GRCh37] Chr17:25950502..26360979 [NCBI36] Chr17:17q11.2	uncertain significance
GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	copy number loss	See cases [RCV000143278]	Chr17:30678153..32073866 [GRCh38] Chr17:29005171..30400885 [GRCh37] Chr17:26029297..27424998 [NCBI36] Chr17:17q11.2	pathogenic
GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1	copy number loss	See cases [RCV000143260]	Chr17:30614048..30999204 [GRCh38] Chr17:28941066..29326222 [GRCh37] Chr17:25965192..26350348 [NCBI36] Chr17:17q11.2	likely pathogenic
GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	copy number gain	See cases [RCV000148149]	Chr17:30706864..31999939 [GRCh38] Chr17:29033882..30326958 [GRCh37] Chr17:26058008..27351071 [NCBI36] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.356_357delinsAA (p.Arg119Gln)	indel	not specified [RCV000194559]	Chr17:30971429..30971430 [GRCh38] Chr17:29298447..29298448 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	copy number gain	not provided [RCV000762776]	Chr17:25403446..31685464 [GRCh37] Chr17:17q11.1-11.2	likely pathogenic
Single allele	duplication	Macrocephaly, macrosomia, facial dysmorphism syndrome [RCV000677969]	Chr17:29302441..29326846 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.901del (p.Gln301fs)	deletion	not provided [RCV000428619]	Chr17:30998792 [GRCh38] Chr17:29325810 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.1245G>T (p.Trp415Cys)	single nucleotide variant	RNF135-related disorder [RCV004758041]\|not provided [RCV000963509]\|not specified [RCV000593277]	Chr17:30999137 [GRCh38] Chr17:29326155 [GRCh37] Chr17:17q11.2	benign\|likely benign
Single allele	duplication	Global developmental delay [RCV000414764]	Chr17:29111368..30183819 [GRCh37] Chr17:17q11.2	likely pathogenic
NM_032322.4(RNF135):c.518C>G (p.Ala173Gly)	single nucleotide variant	not provided [RCV000732845]\|not specified [RCV004027046]	Chr17:30987945 [GRCh38] Chr17:29314963 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn)	single nucleotide variant	not provided [RCV000734270]\|not specified [RCV004027080]	Chr17:30998901 [GRCh38] Chr17:29325919 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29325832-29326647)x1	copy number loss	See cases [RCV000447002]	Chr17:29325832..29326647 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:28997893-30408615)x1	copy number loss	See cases [RCV000447440]	Chr17:28997893..30408615 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:28959760-30367155)x1	copy number loss	See cases [RCV000445869]	Chr17:28959760..30367155 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.389G>A (p.Ser130Asn)	single nucleotide variant	not provided [RCV000434192]	Chr17:30984633 [GRCh38] Chr17:29311651 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29214386-29327115)x3	copy number gain	See cases [RCV000445701]	Chr17:29214386..29327115 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29302441-29326790)x3	copy number gain	See cases [RCV000448711]	Chr17:29302441..29326790 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29103348-30298773)x1	copy number loss	See cases [RCV000510513]	Chr17:29103348..30298773 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.299A>G (p.His100Arg)	single nucleotide variant	not provided [RCV000514211]\|not specified [RCV000504200]	Chr17:30971372 [GRCh38] Chr17:29298390 [GRCh37] Chr17:17q11.2	benign\|likely benign
GRCh37/hg19 17q11.2(chr17:28997791-30386515)x1	copy number loss	See cases [RCV000510597]	Chr17:28997791..30386515 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.344G>A (p.Arg115Lys)	single nucleotide variant	RNF135-related disorder [RCV003979899]\|not provided [RCV000954758]\|not specified [RCV000500850]	Chr17:30971417 [GRCh38] Chr17:29298435 [GRCh37] Chr17:17q11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q11.2(chr17:28993036-30386515)x1	copy number loss	See cases [RCV000511944]	Chr17:28993036..30386515 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:29033882-30326958)	copy number loss	Cafe au lait spots, multiple [RCV000626517]	Chr17:29033882..30326958 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q11.2(chr17:29033882-30326958)	copy number loss	Cafe au lait spots, multiple [RCV000626518]	Chr17:29033882..30326958 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	copy number loss	Mitogen-activated protein kinase kinase inhibitor response [RCV000626439]	Chr17:25248166..30645676 [GRCh37] Chr17:17q11.1-11.2	drug response
GRCh37/hg19 17q11.2(chr17:29000019-30416429)	copy number loss	Neurofibromatosis, familial spinal [RCV004557255]	Chr17:29000019..30416429 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.770-7T>C	single nucleotide variant	not provided [RCV000658776]	Chr17:30998655 [GRCh38] Chr17:29325673 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29003358-30412788)x1	copy number loss	not provided [RCV000683915]	Chr17:29003358..30412788 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1	copy number loss	not provided [RCV000683914]	Chr17:28997893..30391813 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q11.2(chr17:29015932-30298437)x1	copy number loss	not provided [RCV000739455]	Chr17:29015932..30298437 [GRCh37] Chr17:17q11.2	likely pathogenic
GRCh37/hg19 17q11.2(chr17:29213943-29333516)x3	copy number gain	not provided [RCV000739460]	Chr17:29213943..29333516 [GRCh37] Chr17:17q11.2	benign
GRCh37/hg19 17q11.2(chr17:29297775-29298413)x1	copy number loss	not provided [RCV000739461]	Chr17:29297775..29298413 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.322T>C (p.Ser108Pro)	single nucleotide variant	not provided [RCV001724474]	Chr17:30971395 [GRCh38] Chr17:29298413 [GRCh37] Chr17:17q11.2	benign
NC_000017.11:g.30970910T>C	single nucleotide variant	not provided [RCV001570116]	Chr17:30970910 [GRCh38] Chr17:29297928 [GRCh37] Chr17:17q11.2	likely benign
NC_000017.11:g.30970892C>G	single nucleotide variant	not provided [RCV001724476]	Chr17:30970892 [GRCh38] Chr17:29297910 [GRCh37] Chr17:17q11.2	benign
NC_000017.11:g.30970857C>T	single nucleotide variant	not provided [RCV001578259]	Chr17:30970857 [GRCh38] Chr17:29297875 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.669A>G (p.Ala223=)	single nucleotide variant	not provided [RCV000950819]	Chr17:30988096 [GRCh38] Chr17:29315114 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.604C>T (p.His202Tyr)	single nucleotide variant	RNF135-related disorder [RCV004731073]\|not provided [RCV000982154]	Chr17:30988031 [GRCh38] Chr17:29315049 [GRCh37] Chr17:17q11.2	likely benign\|uncertain significance
NM_032322.4(RNF135):c.129C>T (p.His43=)	single nucleotide variant	not provided [RCV000893342]	Chr17:30971202 [GRCh38] Chr17:29298220 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_032322.4(RNF135):c.846T>C (p.Thr282=)	single nucleotide variant	not provided [RCV000921103]	Chr17:30998738 [GRCh38] Chr17:29325756 [GRCh37] Chr17:17q11.2	likely benign
GRCh37/hg19 17q11.2(chr17:29111368-30183819)	copy number gain	not provided [RCV000767739]	Chr17:29111368..30183819 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.573C>T (p.Asp191=)	single nucleotide variant	not provided [RCV000880054]	Chr17:30988000 [GRCh38] Chr17:29315018 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_032322.4(RNF135):c.527C>G (p.Ser176Cys)	single nucleotide variant	not provided [RCV000899327]	Chr17:30987954 [GRCh38] Chr17:29314972 [GRCh37] Chr17:17q11.2	benign\|likely benign
NM_032322.4(RNF135):c.955A>G (p.Thr319Ala)	single nucleotide variant	not specified [RCV004309792]	Chr17:30998847 [GRCh38] Chr17:29325865 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb [RCV000856639]	Chr17:28941066..30326958 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.241C>T (p.Leu81=)	single nucleotide variant	not provided [RCV000915946]	Chr17:30971314 [GRCh38] Chr17:29298332 [GRCh37] Chr17:17q11.2	likely benign
GRCh37/hg19 17q11.2(chr17:29210100-29327116)x3	copy number gain	not provided [RCV000847993]	Chr17:29210100..29327116 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29054315-30409336)x1	copy number loss	not provided [RCV000847727]	Chr17:29054315..30409336 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.292C>G (p.Pro98Ala)	single nucleotide variant	RNF135-related disorder [RCV003905849]\|not provided [RCV000962490]\|not specified [RCV001819040]	Chr17:30971365 [GRCh38] Chr17:29298383 [GRCh37] Chr17:17q11.2	benign\|likely benign
GRCh37/hg19 17q11.2(chr17:29088218-30159137)x1	copy number loss	not provided [RCV001006889]	Chr17:29088218..30159137 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:29214423-29327116)x3	copy number gain	not provided [RCV000847782]	Chr17:29214423..29327116 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:28999903-29336050)x3	copy number gain	not provided [RCV000848034]	Chr17:28999903..29336050 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29068802-29336967)x3	copy number gain	not provided [RCV000847248]	Chr17:29068802..29336967 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	copy number gain	not provided [RCV000848806]	Chr17:29054315..30391711 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:28999903-30409337)x1	copy number loss	not provided [RCV000846363]	Chr17:28999903..30409337 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
NM_032322.4(RNF135):c.372+2dup	duplication	not provided [RCV000996513]	Chr17:30971446..30971447 [GRCh38] Chr17:29298464..29298465 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.532G>A (p.Val178Met)	single nucleotide variant	not provided [RCV001580886]	Chr17:30987959 [GRCh38] Chr17:29314977 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.680-61_680-60insCCAAACATCTCCAA	insertion	not provided [RCV001567443]	Chr17:30997181..30997182 [GRCh38] Chr17:29324199..29324200 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.517-225T>C	single nucleotide variant	not provided [RCV001549633]	Chr17:30987719 [GRCh38] Chr17:29314737 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.680-3485A>T	single nucleotide variant	not provided [RCV001676074]	Chr17:30993757 [GRCh38] Chr17:29320775 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.680-91G>A	single nucleotide variant	not provided [RCV001696475]	Chr17:30997151 [GRCh38] Chr17:29324169 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.237G>A (p.Gln79=)	single nucleotide variant	not provided [RCV000899195]	Chr17:30971310 [GRCh38] Chr17:29298328 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.816G>A (p.Leu272=)	single nucleotide variant	not provided [RCV000894937]	Chr17:30998708 [GRCh38] Chr17:29325726 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.1008C>T (p.Arg336=)	single nucleotide variant	not provided [RCV000933908]	Chr17:30998900 [GRCh38] Chr17:29325918 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.856C>T (p.Arg286Cys)	single nucleotide variant	not provided [RCV000935166]	Chr17:30998748 [GRCh38] Chr17:29325766 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.360G>T (p.Pro120=)	single nucleotide variant	not provided [RCV001530706]	Chr17:30971433 [GRCh38] Chr17:29298451 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.372+142C>T	single nucleotide variant	not provided [RCV001552620]	Chr17:30971587 [GRCh38] Chr17:29298605 [GRCh37] Chr17:17q11.2	likely benign
NC_000017.11:g.30970713T>C	single nucleotide variant	not provided [RCV001564711]	Chr17:30970713 [GRCh38] Chr17:29297731 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.372+141T>C	single nucleotide variant	not provided [RCV001587607]	Chr17:30971586 [GRCh38] Chr17:29298604 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.517-176_517-170del	deletion	not provided [RCV001666163]	Chr17:30987767..30987773 [GRCh38] Chr17:29314785..29314791 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.679+69G>C	single nucleotide variant	not provided [RCV001708616]	Chr17:30988175 [GRCh38] Chr17:29315193 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.679+301C>A	single nucleotide variant	not provided [RCV001547200]	Chr17:30988407 [GRCh38] Chr17:29315425 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.213C>G (p.His71Gln)	single nucleotide variant	not provided [RCV001612785]	Chr17:30971286 [GRCh38] Chr17:29298304 [GRCh37] Chr17:17q11.2	benign
NM_032322.4(RNF135):c.20G>C (p.Gly7Ala)	single nucleotide variant	not provided [RCV001197960]	Chr17:30971093 [GRCh38] Chr17:29298111 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:28993036-30412788)	copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb [RCV002280633]\|Neurofibromatosis, type 1 [RCV002280632]	Chr17:28993036..30412788 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.*292C>T	single nucleotide variant	not provided [RCV001538585]	Chr17:30999483 [GRCh38] Chr17:29326501 [GRCh37] Chr17:17q11.2	benign
GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	copy number loss	not provided [RCV001259329]	Chr17:29039844..30412788 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:29061631-29305516)x3	copy number gain	not provided [RCV001259331]	Chr17:29061631..29305516 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:28931870-29336853)x1	copy number loss	not provided [RCV001259332]	Chr17:28931870..29336853 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)	single nucleotide variant	Chromosome 17q11.2 deletion syndrome, 1.4Mb [RCV001335203]	Chr17:30988002 [GRCh38] Chr17:29315020 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.680-64_680-61del	deletion	not provided [RCV001537524]	Chr17:30997178..30997181 [GRCh38] Chr17:29324196..29324199 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.457C>T (p.Gln153Ter)	single nucleotide variant	Chromosome 17q11.2 deletion syndrome, 1.4 MB [RCV001335202]	Chr17:30984701 [GRCh38] Chr17:29311719 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.516+178G>C	single nucleotide variant	not provided [RCV001541683]	Chr17:30984938 [GRCh38] Chr17:29311956 [GRCh37] Chr17:17q11.2	likely benign
NC_000017.10:g.(?_27573882)_(29576157_?)del	deletion	Neurofibromatosis, type 1 [RCV003109263]	Chr17:27573882..29576157 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.1281_1283del (p.Ile427_Lys428delinsMet)	deletion	not provided [RCV001786890]	Chr17:30999173..30999175 [GRCh38] Chr17:29326191..29326193 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.1234C>T (p.Pro412Ser)	single nucleotide variant	not provided [RCV001765500]	Chr17:30999126 [GRCh38] Chr17:29326144 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.668C>T (p.Ala223Val)	single nucleotide variant	not provided [RCV001773132]	Chr17:30988095 [GRCh38] Chr17:29315113 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.372+1G>T	single nucleotide variant	not provided [RCV001799902]	Chr17:30971446 [GRCh38] Chr17:29298464 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.691_710dup (p.Cys238fs)	duplication	not provided [RCV001786947]	Chr17:30997252..30997253 [GRCh38] Chr17:29324270..29324271 [GRCh37] Chr17:17q11.2	uncertain significance
Single allele	deletion	Cerebral palsy [RCV001796573]	Chr17:28992701..30408700 [GRCh37] Chr17:17q11.2	pathogenic
NC_000017.11:g.30660608_31159168inv	inversion	Neurofibromatosis, type 1 [RCV002223747]	Chr17:30660608..31159168 [GRCh38] Chr17:17q11.2	pathogenic
NC_000017.10:g.(?_26684694)_(29701173_?)dup	duplication	not provided [RCV003123018]	Chr17:26684694..29701173 [GRCh37] Chr17:17q11.2	uncertain significance
GRCh37/hg19 17q11.2(chr17:29076232-30043725)x1	copy number loss	not provided [RCV002291543]	Chr17:29076232..30043725 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.496G>A (p.Glu166Lys)	single nucleotide variant	not specified [RCV004110579]	Chr17:30984740 [GRCh38] Chr17:29311758 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.308G>T (p.Cys103Phe)	single nucleotide variant	not specified [RCV004097446]	Chr17:30971381 [GRCh38] Chr17:29298399 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.124C>T (p.Arg42Cys)	single nucleotide variant	not provided [RCV003427631]\|not specified [RCV004183847]	Chr17:30971197 [GRCh38] Chr17:29298215 [GRCh37] Chr17:17q11.2	benign\|uncertain significance
NM_032322.4(RNF135):c.196G>T (p.Ala66Ser)	single nucleotide variant	not specified [RCV004156840]	Chr17:30971269 [GRCh38] Chr17:29298287 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.56T>C (p.Leu19Pro)	single nucleotide variant	not specified [RCV004092111]	Chr17:30971129 [GRCh38] Chr17:29298147 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.841G>A (p.Val281Met)	single nucleotide variant	not specified [RCV004121986]	Chr17:30998733 [GRCh38] Chr17:29325751 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.265G>A (p.Ala89Thr)	single nucleotide variant	not specified [RCV004158891]	Chr17:30971338 [GRCh38] Chr17:29298356 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.266C>A (p.Ala89Glu)	single nucleotide variant	not specified [RCV004158892]	Chr17:30971339 [GRCh38] Chr17:29298357 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.200C>G (p.Ala67Gly)	single nucleotide variant	not specified [RCV004084907]	Chr17:30971273 [GRCh38] Chr17:29298291 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.218G>A (p.Arg73Gln)	single nucleotide variant	not specified [RCV004192485]	Chr17:30971291 [GRCh38] Chr17:29298309 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.836G>A (p.Arg279His)	single nucleotide variant	not specified [RCV004174080]	Chr17:30998728 [GRCh38] Chr17:29325746 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.946G>A (p.Glu316Lys)	single nucleotide variant	not specified [RCV004265381]	Chr17:30998838 [GRCh38] Chr17:29325856 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.240C>G (p.Asp80Glu)	single nucleotide variant	not specified [RCV004261044]	Chr17:30971313 [GRCh38] Chr17:29298331 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.152C>G (p.Ala51Gly)	single nucleotide variant	not specified [RCV004357392]	Chr17:30971225 [GRCh38] Chr17:29298243 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.758G>A (p.Arg253Gln)	single nucleotide variant	not specified [RCV004340446]	Chr17:30997320 [GRCh38] Chr17:29324338 [GRCh37] Chr17:17q11.2	likely benign
GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	copy number loss	not provided [RCV003483317]	Chr17:28387597..30812008 [GRCh37] Chr17:17q11.2	pathogenic
NC_000017.11:g.31008617C>T	single nucleotide variant	not provided [RCV003419695]	Chr17:31008617 [GRCh38] Chr17:29335635 [GRCh37] Chr17:17q11.2	likely benign
Single allele	deletion	not provided [RCV003448706]	Chr17:29000371..30367382 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	copy number gain	not specified [RCV003987238]	Chr17:29305509..31246638 [GRCh37] Chr17:17q11.2	pathogenic
GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	copy number loss	not specified [RCV003987216]	Chr17:28277040..30903559 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.860C>T (p.Pro287Leu)	single nucleotide variant	not specified [RCV004446370]	Chr17:30998752 [GRCh38] Chr17:29325770 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.69C>A (p.Ile23=)	single nucleotide variant	RNF135-related disorder [RCV003926794]	Chr17:30971142 [GRCh38] Chr17:29298160 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.377C>T (p.Ala126Val)	single nucleotide variant	RNF135-related disorder [RCV003962294]	Chr17:30984621 [GRCh38] Chr17:29311639 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.1240T>C (p.Phe414Leu)	single nucleotide variant	RNF135-related disorder [RCV003959201]	Chr17:30999132 [GRCh38] Chr17:29326150 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.198C>T (p.Ala66=)	single nucleotide variant	RNF135-related disorder [RCV003934633]	Chr17:30971271 [GRCh38] Chr17:29298289 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.5C>T (p.Ala2Val)	single nucleotide variant	RNF135-related disorder [RCV003944088]	Chr17:30971078 [GRCh38] Chr17:29298096 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.346C>T (p.Pro116Ser)	single nucleotide variant	not specified [RCV004454383]	Chr17:30971419 [GRCh38] Chr17:29298437 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.803T>C (p.Leu268Pro)	single nucleotide variant	not specified [RCV004454387]	Chr17:30998695 [GRCh38] Chr17:29325713 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.356G>A (p.Arg119His)	single nucleotide variant	not specified [RCV004454384]	Chr17:30971429 [GRCh38] Chr17:29298447 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.643G>A (p.Val215Ile)	single nucleotide variant	not specified [RCV004454386]	Chr17:30988070 [GRCh38] Chr17:29315088 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.240C>A (p.Asp80Glu)	single nucleotide variant	not specified [RCV004454381]	Chr17:30971313 [GRCh38] Chr17:29298331 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.597T>G (p.Asp199Glu)	single nucleotide variant	not specified [RCV004454385]	Chr17:30988024 [GRCh38] Chr17:29315042 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.812G>A (p.Ser271Asn)	single nucleotide variant	not specified [RCV004454388]	Chr17:30998704 [GRCh38] Chr17:29325722 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.1148A>G (p.Glu383Gly)	single nucleotide variant	not specified [RCV004663417]	Chr17:30999040 [GRCh38] Chr17:29326058 [GRCh37] Chr17:17q11.2	uncertain significance
NC_000017.10:g.(?_28524804)_(29624377_?)del	deletion	Neurofibromatosis, type 1 [RCV004579908]	Chr17:28524804..29624377 [GRCh37] Chr17:17q11.2	pathogenic
NM_032322.4(RNF135):c.726C>T (p.Asp242=)	single nucleotide variant	not specified [RCV004663415]	Chr17:30997288 [GRCh38] Chr17:29324306 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.229C>G (p.Leu77Val)	single nucleotide variant	not specified [RCV004663416]	Chr17:30971302 [GRCh38] Chr17:29298320 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.119T>C (p.Phe40Ser)	single nucleotide variant	not specified [RCV004663418]	Chr17:30971192 [GRCh38] Chr17:29298210 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.439G>A (p.Asp147Asn)	single nucleotide variant	not specified [RCV004858396]	Chr17:30984683 [GRCh38] Chr17:29311701 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.1261C>T (p.Pro421Ser)	single nucleotide variant	not specified [RCV004858397]	Chr17:30999153 [GRCh38] Chr17:29326171 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.382G>C (p.Glu128Gln)	single nucleotide variant	not specified [RCV004847426]	Chr17:30984626 [GRCh38] Chr17:29311644 [GRCh37] Chr17:17q11.2	likely benign
NM_032322.4(RNF135):c.755C>G (p.Ser252Cys)	single nucleotide variant	not specified [RCV004847427]	Chr17:30997317 [GRCh38] Chr17:29324335 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.577G>A (p.Ala193Thr)	single nucleotide variant	not specified [RCV004847424]	Chr17:30988004 [GRCh38] Chr17:29315022 [GRCh37] Chr17:17q11.2	uncertain significance
NM_032322.4(RNF135):c.232C>A (p.Leu78Met)	single nucleotide variant	not specified [RCV004847425]	Chr17:30971305 [GRCh38] Chr17:29298323 [GRCh37] Chr17:17q11.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2083
Count of miRNA genes:	697
Interacting mature miRNAs:	774
Transcripts:	ENST00000324689, ENST00000328381, ENST00000434242, ENST00000443677, ENST00000535306, ENST00000580444, ENST00000582674
Prediction methods:	Microtar, Miranda, Pita, 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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597199273	GWAS1295347_H	lean body mass QTL GWAS1295347 (human)		4e-31	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	17	30991776	30991777	Human
597263114	GWAS1359188_H	BMI-adjusted hip circumference QTL GWAS1359188 (human)		2e-13	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	17	30991776	30991777	Human
597304889	GWAS1400963_H	BMI-adjusted hip circumference QTL GWAS1400963 (human)		6e-19	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	17	30991776	30991777	Human
1298406	BP16_H	Blood pressure QTL 16 (human)		0.0004	Blood pressure	hypertension susceptibility	17	14778647	40778647	Human
597254828	GWAS1350902_H	BMI-adjusted waist circumference QTL GWAS1350902 (human)		3e-16	body size trait (VT:0100005)		17	30991776	30991777	Human
597609240	GWAS1666100_H	Benign Thyroid Gland Neoplasm QTL GWAS1666100 (human)		2e-12	Benign Thyroid Gland Neoplasm		17	30960654	30960655	Human
406972025	GWAS621001_H	trait in response to paliperidone, schizophrenia symptom severity measurement QTL GWAS621001 (human)		0.000004	trait in response to paliperidone, schizophrenia symptom severity measurement		17	30998606	30998607	Human
597338224	GWAS1434298_H	sexual dimorphism measurement QTL GWAS1434298 (human)		4e-08	sexual dimorphism measurement		17	30998005	30998006	Human
597338977	GWAS1435051_H	sexual dimorphism measurement QTL GWAS1435051 (human)		2e-15	sexual dimorphism measurement		17	30991776	30991777	Human
597193173	GWAS1289247_H	sexual dimorphism measurement QTL GWAS1289247 (human)		3e-19	sexual dimorphism measurement		17	30991776	30991777	Human

Markers in Region

UniSTS:494596

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	93,973,803 - 93,974,210	UniSTS	GRCh37
GRCh37	2	69,704,517 - 69,705,843	UniSTS	GRCh37
Build 36	1	93,746,391 - 93,746,798	RGD	NCBI36
Celera	2	69,555,237 - 69,556,563	UniSTS
Celera	1	92,227,869 - 92,228,276	RGD
HuRef	1	92,095,283 - 92,095,690	UniSTS
HuRef	2	69,440,593 - 69,441,919	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	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2437	2788	2251	4968	1718	2338	6	616	1944	457	2270	7291	6467	51	3722	1	852	1744	1612	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001184992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_197939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317546	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317547	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054333220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB470605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC138207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI634044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ496729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK226030	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY598332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC082262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC126420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC126422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA878616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000324689 ⟹ ENSP00000323693

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	30,971,023 - 30,999,909 (+)	Ensembl

Ensembl Acc Id:

ENST00000328381 ⟹ ENSP00000328340

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	30,971,039 - 30,999,911 (+)	Ensembl

Ensembl Acc Id:

ENST00000434242 ⟹ ENSP00000467799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	30,988,077 - 30,997,528 (+)	Ensembl

Ensembl Acc Id:

ENST00000443677 ⟹ ENSP00000411965

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	30,970,984 - 30,999,370 (+)	Ensembl

Ensembl Acc Id:

ENST00000535306 ⟹ ENSP00000440470

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	30,971,060 - 30,999,911 (+)	Ensembl

Ensembl Acc Id:

ENST00000580444 ⟹ ENSP00000464549

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	30,971,141 - 30,997,248 (+)	Ensembl

RefSeq Acc Id:

NM_001184992 ⟹ NP_001171921

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	30,971,039 - 30,999,911 (+)	NCBI
GRCh37	17	29,296,224 - 29,326,929 (+)	NCBI
Celera	17	26,218,879 - 26,247,850 (+)	RGD
HuRef	17	25,508,635 - 25,537,506 (+)	ENTREZGENE
CHM1_1	17	29,360,522 - 29,390,158 (+)	NCBI
T2T-CHM13v2.0	17	31,916,743 - 31,945,638 (+)	NCBI

Sequence:

show sequence

AACCCCGACGTCCGCGCCCCGGCCGCCTGTTGGCCATGGCGGGCCTGGGCCTGGGCTCCGCCGT
TCCCGTGTGGCTGGCCGAGGACGACCTCGGCTGCATCATCTGCCAGGGGCTGCTGGACTGGCCC
GCCACGCTGCCCTGCGGCCACAGCTTCTGCCGCCACTGCCTGGAGGCCCTGTGGGGCGCCCGCG
ACGCCCGCCGCTGGGCCTGCCCCACTTGCCGCCAGGGCGCCGCGCAGCAGCCGCACCTGCGGAA
GAACACGCTACTGCAGGACCTGGCCGACAAGTACCGCCGCGCCGCACGCGAGATACAGGCGGGC
TCCGACCCTGCCCACTGCCCCTGCCCGGGCTCCAGTTCCCTCTCCAGCGCGGCCGCGAGGCCCC
GGCGCCGCCCGGAACTGCAGCGGGTGGCAGTAGAGAAGAGCATCACAGAAGTTGCTCAGGAGCT
GACAGAGCTGGTGGAACATCTTGTAGACATTGTCAGAAGCCTGCAGAATCAGAGGCCCCTATCA
GAATCTGGACCAGACAACGAACTGAGCATCCTGGGCAAGGCTTTTTCTTCTGGGGTGGATCTTT
CCATGGCTTCTCCAAAGCTGGTGACTTCCGACACAGCTGCAGGGAAAATCAGAGATATTCTCCA
TGACCTAGAAGAAATTCAGGAAAAATTACAAGAAAGCGTCACCTGGAAAGAGGCTCCTGAAGCA
CAAATGCAGGGTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCACTGCAGCCTCGATCT
CTCAGGCTCAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGC
CACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGGGCCATCCATCCAACCTTTAACTTGA
AGAGCCTTTCCTGCAGCCTGGAGGTGTCCAAGGATTCCCGTACAGTGACTGTGTCTCACCGCCC
ACAACCCTATCGCTGGAGCTGTGAGAGGTTTTCTACCAGCCAGGTCTTATGTTCCCAGGCCCTG
TCTTCTGGAAAGCATTACTGGGAAGTGGACACTAGGAATTGCAGCCACTGGGCAGTTGGGGTGG
CTTCCTGGGAGATGAGCCGCGACCAGGTCCTGGGAAGGACTATGGACTCTTGTTGTGTGGAATG
GAAGGGGACTAGCCAGCTCTCTGCATGGCACATGGTCAAGGAAACTGTCCTTGGCTCAGACAGA
CCTGGGGTGGTGGGCATCTGGCTGAACCTTGAGGAGGGAAAGCTTGCCTTCTATTCAGTGGACA
ATCAGGAGAAGCTTCTGTATGAGTGTACCATCTCTGCCTCCTCTCCTTTGTACCCTGCCTTCTG
GCTGTATGGCTTACATCCTGGAAATTACCTGATAATAAAGCAAGTAAAGGTGTAAGGTTTCCTA
AGGGATTACAACACAGTGGTTTCCTGGTCTCTCTCCCTGTCATCAATCAGGGTAGTAACTTGAC
TTAAGAATACCACTTTTTAGAAAAATTACGATAGAGATGGGATCTCACTAGGTTGCCCAGGCTG
GTGTCGAATTCCTGGTCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAGGTGCTGGGATTACAGG
TGTGAGCCACCACACCTGGCCAAGAATACCACTTTTGAAGTTAATCCTTTTGTGTGATACAGGA
TGAACTTGGGATGTTTGAACCCTGGACATTCCAAATAAAGAATAGGCCCCTGCCTGGCTCCTGG
GAGATAACCTCTAAGCCATTAGAATATCTTGCCTGATAAGAGTGTTTTTGTTTACCTGTGGGCC
TTGGGCCATGCAGTATCAGCTTGACCTTGCAAGGTCAAGCTGAGGAGACTAAGTTAGCCATGTG
GGCAGTGAAGCATGCCAATGTGATCAATCCCTAGTAAAAGCCCTGGACACCTAGGCATGGGTGA
GCTACTCTGGTTGGTAATACTCTGTGCACACATCATTGTAGCCACACATCATTGCTGGGAGAAT
TAAGCATTATCCTGAAGACTCTGCCAGGAGAGGATAATTGGAAGTTCTCTTGGACCTTACCTTA
TGTGCCTTTCTTCATTGCTGATTTTAATCTGTATCCTTTCACTGTAATAAACTGTAACTATGAG
TGCAACA

hide sequence

RefSeq Acc Id:

NM_032322 ⟹ NP_115698

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	30,971,039 - 30,999,911 (+)	NCBI
GRCh37	17	29,296,224 - 29,326,929 (+)	NCBI
Build 36	17	26,322,082 - 26,351,053 (+)	NCBI Archive
Celera	17	26,218,879 - 26,247,850 (+)	RGD
HuRef	17	25,508,635 - 25,537,506 (+)	ENTREZGENE
CHM1_1	17	29,360,522 - 29,390,156 (+)	NCBI
T2T-CHM13v2.0	17	31,916,743 - 31,945,638 (+)	NCBI

Sequence:

show sequence

AACCCCGACGTCCGCGCCCCGGCCGCCTGTTGGCCATGGCGGGCCTGGGCCTGGGCTCCGCCGT
TCCCGTGTGGCTGGCCGAGGACGACCTCGGCTGCATCATCTGCCAGGGGCTGCTGGACTGGCCC
GCCACGCTGCCCTGCGGCCACAGCTTCTGCCGCCACTGCCTGGAGGCCCTGTGGGGCGCCCGCG
ACGCCCGCCGCTGGGCCTGCCCCACTTGCCGCCAGGGCGCCGCGCAGCAGCCGCACCTGCGGAA
GAACACGCTACTGCAGGACCTGGCCGACAAGTACCGCCGCGCCGCACGCGAGATACAGGCGGGC
TCCGACCCTGCCCACTGCCCCTGCCCGGGCTCCAGTTCCCTCTCCAGCGCGGCCGCGAGGCCCC
GGCGCCGCCCGGAACTGCAGCGGGTGGCAGTAGAGAAGAGCATCACAGAAGTTGCTCAGGAGCT
GACAGAGCTGGTGGAACATCTTGTAGACATTGTCAGAAGCCTGCAGAATCAGAGGCCCCTATCA
GAATCTGGACCAGACAACGAACTGAGCATCCTGGGCAAGGCTTTTTCTTCTGGGGTGGATCTTT
CCATGGCTTCTCCAAAGCTGGTGACTTCCGACACAGCTGCAGGGAAAATCAGAGATATTCTCCA
TGACCTAGAAGAAATTCAGGAAAAATTACAAGAAAGCGTCACCTGGAAAGAGGCTCCTGAAGCA
CAAATGCAGGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCC
ACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGGGCCATCCATCCAACCTTTAACTTGAA
GAGCCTTTCCTGCAGCCTGGAGGTGTCCAAGGATTCCCGTACAGTGACTGTGTCTCACCGCCCA
CAACCCTATCGCTGGAGCTGTGAGAGGTTTTCTACCAGCCAGGTCTTATGTTCCCAGGCCCTGT
CTTCTGGAAAGCATTACTGGGAAGTGGACACTAGGAATTGCAGCCACTGGGCAGTTGGGGTGGC
TTCCTGGGAGATGAGCCGCGACCAGGTCCTGGGAAGGACTATGGACTCTTGTTGTGTGGAATGG
AAGGGGACTAGCCAGCTCTCTGCATGGCACATGGTCAAGGAAACTGTCCTTGGCTCAGACAGAC
CTGGGGTGGTGGGCATCTGGCTGAACCTTGAGGAGGGAAAGCTTGCCTTCTATTCAGTGGACAA
TCAGGAGAAGCTTCTGTATGAGTGTACCATCTCTGCCTCCTCTCCTTTGTACCCTGCCTTCTGG
CTGTATGGCTTACATCCTGGAAATTACCTGATAATAAAGCAAGTAAAGGTGTAAGGTTTCCTAA
GGGATTACAACACAGTGGTTTCCTGGTCTCTCTCCCTGTCATCAATCAGGGTAGTAACTTGACT
TAAGAATACCACTTTTTAGAAAAATTACGATAGAGATGGGATCTCACTAGGTTGCCCAGGCTGG
TGTCGAATTCCTGGTCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAGGTGCTGGGATTACAGGT
GTGAGCCACCACACCTGGCCAAGAATACCACTTTTGAAGTTAATCCTTTTGTGTGATACAGGAT
GAACTTGGGATGTTTGAACCCTGGACATTCCAAATAAAGAATAGGCCCCTGCCTGGCTCCTGGG
AGATAACCTCTAAGCCATTAGAATATCTTGCCTGATAAGAGTGTTTTTGTTTACCTGTGGGCCT
TGGGCCATGCAGTATCAGCTTGACCTTGCAAGGTCAAGCTGAGGAGACTAAGTTAGCCATGTGG
GCAGTGAAGCATGCCAATGTGATCAATCCCTAGTAAAAGCCCTGGACACCTAGGCATGGGTGAG
CTACTCTGGTTGGTAATACTCTGTGCACACATCATTGTAGCCACACATCATTGCTGGGAGAATT
AAGCATTATCCTGAAGACTCTGCCAGGAGAGGATAATTGGAAGTTCTCTTGGACCTTACCTTAT
GTGCCTTTCTTCATTGCTGATTTTAATCTGTATCCTTTCACTGTAATAAACTGTAACTATGAGT
GCAACA

hide sequence

RefSeq Acc Id:

NM_197939 ⟹ NP_922921

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	30,971,039 - 30,999,911 (+)	NCBI
GRCh37	17	29,296,224 - 29,326,929 (+)	NCBI
Build 36	17	26,322,082 - 26,351,053 (+)	NCBI Archive
Celera	17	26,218,879 - 26,247,850 (+)	RGD
HuRef	17	25,508,635 - 25,537,506 (+)	ENTREZGENE
CHM1_1	17	29,360,522 - 29,390,156 (+)	NCBI
T2T-CHM13v2.0	17	31,916,743 - 31,945,638 (+)	NCBI

Sequence:

show sequence

AACCCCGACGTCCGCGCCCCGGCCGCCTGTTGGCCATGGCGGGCCTGGGCCTGGGCTCCGCCGT
TCCCGTGTGGCTGGCCGAGGACGACCTCGGCTGCATCATCTGCCAGGGGCTGCTGGACTGGCCC
GCCACGCTGCCCTGCGGCCACAGCTTCTGCCGCCACTGCCTGGAGGCCCTGTGGGGCGCCCGCG
ACGCCCGCCGCTGGGCCTGCCCCACTTGCCGCCAGGGCGCCGCGCAGCAGCCGCACCTGCGGAA
GAACACGCTACTGCAGGACCTGGCCGACAAGTACCGCCGCGCCGCACGCGAGATACAGGCGGGC
TCCGACCCTGCCCACTGCCCCTGCCCGGGCTCCAGTTCCCTCTCCAGCGCGGCCGCGAGGCCCC
GGCGCCGCCCGGAACTGCAGCGGGTGGCAGTAGAGAAGAGCATCACAGAAGTTGCTCAGGAGCT
GACAGAGCTGGTGGAACATCTTGTAGACATTGTCAGAAGCCTGCAGAATCAGAGGCCCCTATCA
GAATCTGGACCAGACAACGAACTGAGCATCCTGGGCAAGGAGAACTCCTGGAAGCCCCGTCTTC
CTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAG
TGGGCCATCCATCCAACCTTTAACTTGAAGAGCCTTTCCTGCAGCCTGGAGGTGTCCAAGGATT
CCCGTACAGTGACTGTGTCTCACCGCCCACAACCCTATCGCTGGAGCTGTGAGAGGTTTTCTAC
CAGCCAGGTCTTATGTTCCCAGGCCCTGTCTTCTGGAAAGCATTACTGGGAAGTGGACACTAGG
AATTGCAGCCACTGGGCAGTTGGGGTGGCTTCCTGGGAGATGAGCCGCGACCAGGTCCTGGGAA
GGACTATGGACTCTTGTTGTGTGGAATGGAAGGGGACTAGCCAGCTCTCTGCATGGCACATGGT
CAAGGAAACTGTCCTTGGCTCAGACAGACCTGGGGTGGTGGGCATCTGGCTGAACCTTGAGGAG
GGAAAGCTTGCCTTCTATTCAGTGGACAATCAGGAGAAGCTTCTGTATGAGTGTACCATCTCTG
CCTCCTCTCCTTTGTACCCTGCCTTCTGGCTGTATGGCTTACATCCTGGAAATTACCTGATAAT
AAAGCAAGTAAAGGTGTAAGGTTTCCTAAGGGATTACAACACAGTGGTTTCCTGGTCTCTCTCC
CTGTCATCAATCAGGGTAGTAACTTGACTTAAGAATACCACTTTTTAGAAAAATTACGATAGAG
ATGGGATCTCACTAGGTTGCCCAGGCTGGTGTCGAATTCCTGGTCTCAAGCAGTCCTCCCACCT
CAGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCAAGAATACCACTTTT
GAAGTTAATCCTTTTGTGTGATACAGGATGAACTTGGGATGTTTGAACCCTGGACATTCCAAAT
AAAGAATAGGCCCCTGCCTGGCTCCTGGGAGATAACCTCTAAGCCATTAGAATATCTTGCCTGA
TAAGAGTGTTTTTGTTTACCTGTGGGCCTTGGGCCATGCAGTATCAGCTTGACCTTGCAAGGTC
AAGCTGAGGAGACTAAGTTAGCCATGTGGGCAGTGAAGCATGCCAATGTGATCAATCCCTAGTA
AAAGCCCTGGACACCTAGGCATGGGTGAGCTACTCTGGTTGGTAATACTCTGTGCACACATCAT
TGTAGCCACACATCATTGCTGGGAGAATTAAGCATTATCCTGAAGACTCTGCCAGGAGAGGATA
ATTGGAAGTTCTCTTGGACCTTACCTTATGTGCCTTTCTTCATTGCTGATTTTAATCTGTATCC
TTTCACTGTAATAAACTGTAACTATGAGTGCAACA

hide sequence

RefSeq Acc Id:

XM_024451000 ⟹ XP_024306768

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	30,971,464 - 30,999,911 (+)	NCBI

Sequence:

show sequence

AACATCAGCATTTTTGAGGACGCTCCCTGTGGCTGTGCATCGGTGATCTTTAATCCCCTGCTAC
TTGTTAGAGGAGCTGGATGACACTTCGTGGGCTCATTCTCATAAATAAGCTGCTGAATGGAGTC
CTCTCCTCCCAAGAGTTGTCGGTGTTGCATCTTTTTTGTTGTTTATTTTTTTTTAAGCCAACGG
ACGAAGACATCCAACGGTGCTGCATCTTAATGGAGGGACATCCAGCTAAAGGGAATCTTGGAGA
CCTCCGCGGGTTTCTAGCAGCTCGCGGCATGTTGGTTTCCCAGGGCAAGAGGCCGCCACTGAAG
GTCAGCTCTGTCTTTCCAGCTGGGCACTGGAGGCTCTAAGTCTGTTTTCAGCAGGATCGGAGGA
AGGAGACGGGGTGGCGCCAAGGAAGGAGGAGAAAAGGCGGCCGAGAAAAGGAGGAGGGCAAGGG
GAAGAGGAAGGGCGAGGGAGGAGCCTGAGGAGACTCGCCCGGCTCAACCCCGACGTCCGCGCCC
CGGCCGCCTGTTGGCCATGGCGGGCCTGGGCCTGGGCTCCGCCGTTCCCGTGTGGCTGGCCGAG
GACGACCTCGGCTGCATCATCTGCCAGGGGCTGCTGGACTGGCCCGCCACGCTGCCCTGCGGCC
ACAGCTTCTGCCGCCACTGCCTGGAGGCCCTGTGGGGCGCCCGCGACGCCCGCCGCTGGGCCTG
CCCCACTTGCCGCCAGGGCGCCGCGCAGCAGCCGCACCTGCGGAAGAACACGCTACTGCAGGAC
CTGGCCGACAAGTACCGCCGCGCCGCACGCGAGATACAGGCGGGCTCCGACCCTGCCCACTGCC
CCTGCCCGGGCTCCAGTTCCCTCTCCAGCGCGGCCGCGAGGCCCCGGCGCCGCCCGGAACTGCA
GCGGGTAGGGAGGCCGGGCCCGCAGCTCCCCTGGCTCCCCCGGGCTGCCCGCCGCCTGACCCTT
TCCCATGTGGCTCGAACCCCTTTCCTCAGCCGTTCTACTTTTACGTTCCTTTTCTCAGTCTAAA
AGTCGAGTTCCGCTCTTCGGAGGCACTTTGGAAAGTTCATAAAAGTATGAAGAAGTAGAAAAAA
ACAAATTCCCCATCTTCCGAAAGCTTGTCAACTTAGCTGTTACACAGCTTGGCATATTTCAACT
TCTTCCCAATCGATCTTCGGTCTCTTTCTCTGAAACTTGTAAAATTGTGGTGGCAGTAGAGAAG
AGCATCACAGAAGTTGCTCAGGAGCTGACAGAGCTGGTGGAACATCTTGTAGACATTGTCAGAA
GCCTGCAGAATCAGAGGCCCCTATCAGAATCTGGACCAGACAACGAACTGAGCATCCTGGGCAA
GGCTTTTTCTTCTGGGGTGGATCTTTCCATGGCTTCTCCAAAGCTGGTGACTTCCGACACAGCT
GCAGGGAAAATCAGAGATATTCTCCATGACCTAGAAGAAATTCAGGAAAAATTACAAGAAAGCG
TCACCTGGAAAGAGGCTCCTGAAGCACAAATGCAGGGAGAACTCCTGGAAGCCCCGTCTTCCTC
CTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGG
GCCATCCATCCAACCTTTAACTTGAAGAGCCTTTCCTGCAGCCTGGAGGTGTCCAAGGATTCCC
GTACAGTGACTGTGTCTCACCGCCCACAACCCTATCGCTGGAGCTGTGAGAGGTTTTCTACCAG
CCAGGTCTTATGTTCCCAGGCCCTGTCTTCTGGAAAGCATTACTGGGAAGTGGACACTAGGAAT
TGCAGCCACTGGGCAGTTGGGGTGGCTTCCTGGGAGATGAGCCGCGACCAGGTCCTGGGAAGGA
CTATGGACTCTTGTTGTGTGGAATGGAAGGGGACTAGCCAGCTCTCTGCATGGCACATGGTCAA
GGAAACTGTCCTTGGCTCAGACAGACCTGGGGTGGTGGGCATCTGGCTGAACCTTGAGGAGGGA
AAGCTTGCCTTCTATTCAGTGGACAATCAGGAGAAGCTTCTGTATGAGTGTACCATCTCTGCCT
CCTCTCCTTTGTACCCTGCCTTCTGGCTGTATGGCTTACATCCTGGAAATTACCTGATAATAAA
GCAAGTAAAGGTGTAAGGTTTCCTAAGGGATTACAACACAGTGGTTTCCTGGTCTCTCTCCCTG
TCATCAATCAGGGTAGTAACTTGACTTAAGAATACCACTTTTTAGAAAAATTACGATAGAGATG
GGATCTCACTAGGTTGCCCAGGCTGGTGTCGAATTCCTGGTCTCAAGCAGTCCTCCCACCTCAG
CCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCAAGAATACCACTTTTGAA
GTTAATCCTTTTGTGTGATACAGGATGAACTTGGGATGTTTGAACCCTGGACATTCCAAATAAA
GAATAGGCCCCTGCCTGGCTCCTGGGAGATAACCTCTAAGCCATTAGAATATCTTGCCTGATAA
GAGTGTTTTTGTTTACCTGTGGGCCTTGGGCCATGCAGTATCAGCTTGACCTTGCAAGGTCAAG
CTGAGGAGACTAAGTTAGCCATGTGGGCAGTGAAGCATGCCAATGTGATCAATCCCTAGTAAAA
GCCCTGGACACCTAGGCATGGGTGAGCTACTCTGGTTGGTAATACTCTGTGCACACATCATTGT
AGCCACACATCATTGCTGGGAGAATTAAGCATTATCCTGAAGACTCTGCCAGGAGAGGATAATT
GGAAGTTCTCTTGGACCTTACCTTATGTGCCTTTCTTCATTGCTGATTTTAATCTGTATCCTTT
CACTGTAATAAACTGTAACTATGAGTGCAACA

hide sequence

RefSeq Acc Id:

XM_024451001 ⟹ XP_024306769

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	30,968,790 - 30,999,911 (+)	NCBI

Sequence:

show sequence

CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCCACTTCCCCCTTTCTT
ATAACCACTGCATGATTTTGCATAAAACTTTTAGGGCGTGTCCAAGAAAAAAGTTTGAAAACTA
CTGGTTAACTCACTCTTTCCAGAAACTTGGCTGTGAAATGGAGAAGAGGAGAGCTGGTTCCAGG
GAGGCTCAGGTCAAAGGTGGCAGTAGAGAAGAGCATCACAGAAGTTGCTCAGGAGCTGACAGAG
CTGGTGGAACATCTTGTAGACATTGTCAGAAGCCTGCAGAATCAGAGGCCCCTATCAGAATCTG
GACCAGACAACGAACTGAGCATCCTGGGCAAGGCTTTTTCTTCTGGGGTGGATCTTTCCATGGC
TTCTCCAAAGCTGGTGACTTCCGACACAGCTGCAGGGAAAATCAGAGATATTCTCCATGACCTA
GAAGAAATTCAGGAAAAATTACAAGAAAGCGTCACCTGGAAAGAGGCTCCTGAAGCACAAATGC
AGGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGC
ACTCAGGAGAGCTTCTCGGTTTGCTCAGTGGGCCATCCATCCAACCTTTAACTTGAAGAGCCTT
TCCTGCAGCCTGGAGGTGTCCAAGGATTCCCGTACAGTGACTGTGTCTCACCGCCCACAACCCT
ATCGCTGGAGCTGTGAGAGGTTTTCTACCAGCCAGGTCTTATGTTCCCAGGCCCTGTCTTCTGG
AAAGCATTACTGGGAAGTGGACACTAGGAATTGCAGCCACTGGGCAGTTGGGGTGGCTTCCTGG
GAGATGAGCCGCGACCAGGTCCTGGGAAGGACTATGGACTCTTGTTGTGTGGAATGGAAGGGGA
CTAGCCAGCTCTCTGCATGGCACATGGTCAAGGAAACTGTCCTTGGCTCAGACAGACCTGGGGT
GGTGGGCATCTGGCTGAACCTTGAGGAGGGAAAGCTTGCCTTCTATTCAGTGGACAATCAGGAG
AAGCTTCTGTATGAGTGTACCATCTCTGCCTCCTCTCCTTTGTACCCTGCCTTCTGGCTGTATG
GCTTACATCCTGGAAATTACCTGATAATAAAGCAAGTAAAGGTGTAAGGTTTCCTAAGGGATTA
CAACACAGTGGTTTCCTGGTCTCTCTCCCTGTCATCAATCAGGGTAGTAACTTGACTTAAGAAT
ACCACTTTTTAGAAAAATTACGATAGAGATGGGATCTCACTAGGTTGCCCAGGCTGGTGTCGAA
TTCCTGGTCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCC
ACCACACCTGGCCAAGAATACCACTTTTGAAGTTAATCCTTTTGTGTGATACAGGATGAACTTG
GGATGTTTGAACCCTGGACATTCCAAATAAAGAATAGGCCCCTGCCTGGCTCCTGGGAGATAAC
CTCTAAGCCATTAGAATATCTTGCCTGATAAGAGTGTTTTTGTTTACCTGTGGGCCTTGGGCCA
TGCAGTATCAGCTTGACCTTGCAAGGTCAAGCTGAGGAGACTAAGTTAGCCATGTGGGCAGTGA
AGCATGCCAATGTGATCAATCCCTAGTAAAAGCCCTGGACACCTAGGCATGGGTGAGCTACTCT
GGTTGGTAATACTCTGTGCACACATCATTGTAGCCACACATCATTGCTGGGAGAATTAAGCATT
ATCCTGAAGACTCTGCCAGGAGAGGATAATTGGAAGTTCTCTTGGACCTTACCTTATGTGCCTT
TCTTCATTGCTGATTTTAATCTGTATCCTTTCACTGTAATAAACTGTAACTATGAGTGCAACA

hide sequence

RefSeq Acc Id:

XM_047436929 ⟹ XP_047292885

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	30,958,921 - 30,999,911 (+)	NCBI

RefSeq Acc Id:

XM_054317546 ⟹ XP_054173521

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	31,904,625 - 31,945,638 (+)	NCBI

RefSeq Acc Id:

XM_054317547 ⟹ XP_054173522

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	31,917,168 - 31,945,638 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001171921	(Get FASTA)	NCBI Sequence Viewer
	NP_115698	(Get FASTA)	NCBI Sequence Viewer
	NP_922921	(Get FASTA)	NCBI Sequence Viewer
	XP_024306768	(Get FASTA)	NCBI Sequence Viewer
	XP_024306769	(Get FASTA)	NCBI Sequence Viewer
	XP_047292885	(Get FASTA)	NCBI Sequence Viewer
	XP_054173521	(Get FASTA)	NCBI Sequence Viewer
	XP_054173522	(Get FASTA)	NCBI Sequence Viewer
	XP_054189193	(Get FASTA)	NCBI Sequence Viewer
	XP_054189194	(Get FASTA)	NCBI Sequence Viewer
	XP_054189195	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH05084	(Get FASTA)	NCBI Sequence Viewer
	AAI26421	(Get FASTA)	NCBI Sequence Viewer
	AAI26423	(Get FASTA)	NCBI Sequence Viewer
	AAT06743	(Get FASTA)	NCBI Sequence Viewer
	BAG35816	(Get FASTA)	NCBI Sequence Viewer
	BAG53638	(Get FASTA)	NCBI Sequence Viewer
	BAG53681	(Get FASTA)	NCBI Sequence Viewer
	BAG84604	(Get FASTA)	NCBI Sequence Viewer
	CAD43140	(Get FASTA)	NCBI Sequence Viewer
	EAW80286	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000323693
	ENSP00000323693.4
	ENSP00000328340
	ENSP00000328340.5
	ENSP00000411965.2
	ENSP00000440470
	ENSP00000440470.2
	ENSP00000464549.1
	ENSP00000467799.1
	ENSP00000517219.1
	ENSP00000517220.1
	ENSP00000517221.1
	ENSP00000517222.1
	ENSP00000517223.1
	ENSP00000517224.1
GenBank Protein	Q8IUD6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_115698 ⟸ NM_032322
- Peptide Label:	isoform 1
- UniProtKB:	F5GX60 (UniProtKB/Swiss-Prot), B6ZLM5 (UniProtKB/Swiss-Prot), B2R7G9 (UniProtKB/Swiss-Prot), A0AVM5 (UniProtKB/Swiss-Prot), Q9BSE9 (UniProtKB/Swiss-Prot), Q8IUD6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACPTCRQ GAAQQPHLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPGSSSLSSAAARPRRRPELQRVAVE KSITEVAQELTELVEHLVDIVRSLQNQRPLSESGPDNELSILGKAFSSGVDLSMASPKLVTSDT AAGKIRDILHDLEEIQEKLQESVTWKEAPEAQMQGELLEAPSSSSCPLPDQSHPALRRASRFAQ WAIHPTFNLKSLSCSLEVSKDSRTVTVSHRPQPYRWSCERFSTSQVLCSQALSSGKHYWEVDTR NCSHWAVGVASWEMSRDQVLGRTMDSCCVEWKGTSQLSAWHMVKETVLGSDRPGVVGIWLNLEE GKLAFYSVDNQEKLLYECTISASSPLYPAFWLYGLHPGNYLIIKQVKV hide sequence

RefSeq Acc Id:	NP_922921 ⟸ NM_197939
- Peptide Label:	isoform 2
- UniProtKB:	Q8IUD6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACPTCRQ GAAQQPHLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPGSSSLSSAAARPRRRPELQRVAVE KSITEVAQELTELVEHLVDIVRSLQNQRPLSESGPDNELSILGKENSWKPRLPPHAHCLTRATL HSGELLGLLSGPSIQPLT hide sequence

RefSeq Acc Id:	NP_001171921 ⟸ NM_001184992
- Peptide Label:	isoform 3
- UniProtKB:	Q8IUD6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACPTCRQ GAAQQPHLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPGSSSLSSAAARPRRRPELQRVAVE KSITEVAQELTELVEHLVDIVRSLQNQRPLSESGPDNELSILGKAFSSGVDLSMASPKLVTSDT AAGKIRDILHDLEEIQEKLQESVTWKEAPEAQMQGSLLPRLECSGTITAASISQAQENSWKPRL PPHAHCLTRATLHSGELLGLLSGPSIQPLT hide sequence

RefSeq Acc Id:	XP_024306769 ⟸ XM_024451001
- Peptide Label:	isoform X2
- UniProtKB:	B3KV69 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASPKLVTSDTAAGKIRDILHDLEEIQEKLQESVTWKEAPEAQMQGELLEAPSSSSCPLPDQSH PALRRASRFAQWAIHPTFNLKSLSCSLEVSKDSRTVTVSHRPQPYRWSCERFSTSQVLCSQALS SGKHYWEVDTRNCSHWAVGVASWEMSRDQVLGRTMDSCCVEWKGTSQLSAWHMVKETVLGSDRP GVVGIWLNLEEGKLAFYSVDNQEKLLYECTISASSPLYPAFWLYGLHPGNYLIIKQVKV hide sequence

RefSeq Acc Id:	XP_024306768 ⟸ XM_024451000
- Peptide Label:	isoform X2
- UniProtKB:	B3KV69 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASPKLVTSDTAAGKIRDILHDLEEIQEKLQESVTWKEAPEAQMQGELLEAPSSSSCPLPDQSH PALRRASRFAQWAIHPTFNLKSLSCSLEVSKDSRTVTVSHRPQPYRWSCERFSTSQVLCSQALS SGKHYWEVDTRNCSHWAVGVASWEMSRDQVLGRTMDSCCVEWKGTSQLSAWHMVKETVLGSDRP GVVGIWLNLEEGKLAFYSVDNQEKLLYECTISASSPLYPAFWLYGLHPGNYLIIKQVKV hide sequence

Ensembl Acc Id:

ENSP00000464549 ⟸ ENST00000580444

Ensembl Acc Id:

ENSP00000323693 ⟸ ENST00000324689

Ensembl Acc Id:

ENSP00000440470 ⟸ ENST00000535306

Ensembl Acc Id:

ENSP00000411965 ⟸ ENST00000443677

Ensembl Acc Id:

ENSP00000328340 ⟸ ENST00000328381

Ensembl Acc Id:

ENSP00000467799 ⟸ ENST00000434242

RefSeq Acc Id:	XP_047292885 ⟸ XM_047436929
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054173521 ⟸ XM_054317546
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054173522 ⟸ XM_054317547
- Peptide Label:	isoform X2
- UniProtKB:	B3KV69 (UniProtKB/TrEMBL)

Protein Domains

B30.2/SPRY RING-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IUD6-F1-model_v2	AlphaFold	Q8IUD6	1-432	view protein structure

Promoters

RGD ID:

6794342

Promoter ID:

HG_KWN:25682

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Lymphoblastoid, NB4

Transcripts:

NM_001184992, NM_197939, OTTHUMT00000256342, UC002HGB.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	26,321,661 - 26,322,322 (+)	MPROMDB

RGD ID:

7234531

Promoter ID:

EPDNEW_H23011

Type:

initiation region

Name:

RNF135_1

Description:

ring finger protein 135

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	17	30,971,048 - 30,971,108	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21158	AgrOrtholog
COSMIC	RNF135	COSMIC
Ensembl Genes	ENSG00000181481	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000291712	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000324689	ENTREZGENE
	ENST00000324689.8	UniProtKB/Swiss-Prot
	ENST00000328381	ENTREZGENE
	ENST00000328381.10	UniProtKB/Swiss-Prot
	ENST00000434242.2	UniProtKB/TrEMBL
	ENST00000443677.6	UniProtKB/TrEMBL
	ENST00000535306	ENTREZGENE
	ENST00000535306.6	UniProtKB/Swiss-Prot
	ENST00000580444.2	UniProtKB/TrEMBL
	ENST00000708424.1	UniProtKB/TrEMBL
	ENST00000708425.1	UniProtKB/Swiss-Prot
	ENST00000708426.1	UniProtKB/Swiss-Prot
	ENST00000708427.1	UniProtKB/Swiss-Prot
	ENST00000708428.1	UniProtKB/TrEMBL
	ENST00000708429.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.120.920	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000181481	GTEx
	ENSG00000291712	GTEx
HGNC ID	HGNC:21158	ENTREZGENE
Human Proteome Map	RNF135	Human Proteome Map
InterPro	B30.2/SPRY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	B30.2/SPRY_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Butyrophylin_SPRY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ConA-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	E3_ubiq-ligase_TRIM/RNF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PRY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNF135_SPRY_PRY_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SPRY_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:84282	UniProtKB/Swiss-Prot
NCBI Gene	84282	ENTREZGENE
OMIM	611358	OMIM
PANTHER	B-BOX DOMAIN CONTAINING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	E3 UBIQUITIN-PROTEIN LIGASE RNF135	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	SPRY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C3HC4_4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134978537	PharmGKB
PRINTS	BUTYPHLNCDUF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	B302_SPRY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_RING_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_RING_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	PRY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SPRY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF49899	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0AVM5	ENTREZGENE
	B2R7G9	ENTREZGENE
	B3KV69	ENTREZGENE, UniProtKB/TrEMBL
	B6ZLM5	ENTREZGENE
	F5GX60	ENTREZGENE
	H7C3H8_HUMAN	UniProtKB/TrEMBL
	J3QS68_HUMAN	UniProtKB/TrEMBL
	K7EQF1_HUMAN	UniProtKB/TrEMBL
	Q8IUD6	ENTREZGENE
	Q9BSE9	ENTREZGENE
	RN135_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A0AVM5	UniProtKB/Swiss-Prot
	B2R7G9	UniProtKB/Swiss-Prot
	B6ZLM5	UniProtKB/Swiss-Prot
	F5GX60	UniProtKB/Swiss-Prot
	Q9BSE9	UniProtKB/Swiss-Prot

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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar