TTI2 (TELO2 interacting protein 2)

Gene: TTI2 (TELO2 interacting protein 2) Homo sapiens

Analyze

Symbol:

TTI2

Name:

TELO2 interacting protein 2

RGD ID:

1604785

HGNC Page

HGNC:26262

Description:

Located in TTT Hsp90 cochaperone complex. Implicated in autosomal recessive intellectual developmental disorder 39.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C8orf41; FLJ23263; hypothetical protein LOC80185; MRT39; Tel2 interacting protein 2 homolog; TELO2-interacting protein 2; uncharacterized protein C8orf41

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tti2 (TELO2 interacting protein 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tti2 (TELO2 interacting protein 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tti2 (TELO2 interacting protein 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TTI2 (TELO2 interacting protein 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	TTI2 (TELO2 interacting protein 2)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tti2 (TELO2 interacting protein 2)	NCBI	Ortholog
Sus scrofa (pig):	TTI2 (TELO2 interacting protein 2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TTI2 (TELO2 interacting protein 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tti2 (TELO2 interacting protein 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Mov10 (Mov10 RNA helicase)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tti2 (TELO2 interacting protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tti2 (TELO2 interacting protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tti2 (TELO2 interacting protein 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	tti2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tti2.L	Alliance	DIOPT (Xenbase)

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	33,498,722 - 33,513,135 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	33,473,386 - 33,513,185 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	33,356,240 - 33,370,653 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	33,475,775 - 33,490,245 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	32,305,939 - 32,320,408 (-)	NCBI		Celera
Cytogenetic Map	8	p12	NCBI
HuRef	8	31,888,081 - 31,902,749 (-)	NCBI		HuRef
CHM1_1	8	33,557,468 - 33,572,158 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	33,770,062 - 33,784,485 (-)	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

autosomal recessive intellectual developmental disorder 39 (EXP,IAGP)

genetic disease (IAGP)

intellectual disability (EXP)

microcephaly (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

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

2-hydroxypropanoic acid (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

decabromodiphenyl ether (ISO)

doxorubicin (EXP)

fenvalerate (ISO)

fulvestrant (EXP)

Methylazoxymethanol acetate (ISO)

monosodium L-glutamate (ISO)

perfluorooctane-1-sulfonic acid (ISO)

rac-lactic acid (EXP)

sodium arsenite (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

positive regulation of DNA damage checkpoint (NAS)

protein stabilization (NAS)

Cellular Component

nucleus (NAS)

TTT Hsp90 cochaperone complex (IBA,IEA,IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

2-3 toe syndactyly (IAGP)

Abnormal cerebral white matter morphology (IAGP)

Abnormal facial shape (IAGP)

Abnormality of the dentition (IAGP)

Aggressive behavior (IAGP)

Anteverted ears (IAGP)

Atypical behavior (IAGP)

Autosomal recessive inheritance (IAGP)

Deeply set eye (IAGP)

Delayed ability to walk (IAGP)

Delayed speech and language development (IAGP)

Dental malocclusion (IAGP)

Global developmental delay (IAGP)

Hallux valgus (IAGP)

Hyperactivity (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Infantile onset (IAGP)

Intellectual disability, moderate (IAGP)

Intellectual disability, severe (IAGP)

Irritability (IAGP)

Kyphoscoliosis (IAGP)

Lymphopenia (IAGP)

Macrotia (IAGP)

Microcephaly (IAGP)

Motor stereotypy (IAGP)

Myotonia (IAGP)

Premature ovarian insufficiency (IAGP)

Prominent nose (IAGP)

Scoliosis (IAGP)

Short stature (IAGP)

Sleep abnormality (IAGP)

Sloping forehead (IAGP)

Strabismus (IAGP)

Synophrys (IAGP)

Thin vermilion border (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:12477932	PMID:14702039	PMID:15489334	PMID:16344560	PMID:17643375	PMID:19322201	PMID:20801936	PMID:20810650	PMID:21873635	PMID:23956138	PMID:23956177	PMID:25192599
PMID:26186194	PMID:26496610	PMID:28514442	PMID:28561026	PMID:28700943	PMID:29117863	PMID:29676528	PMID:30033366	PMID:30686591	PMID:30833792	PMID:31073040	PMID:31091453
PMID:33001583	PMID:33961781	PMID:34373451	PMID:34838521	PMID:35256949	PMID:36215168

Genomics

Comparative Map Data

TTI2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	33,498,722 - 33,513,135 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	33,473,386 - 33,513,185 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	33,356,240 - 33,370,653 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	33,475,775 - 33,490,245 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	32,305,939 - 32,320,408 (-)	NCBI		Celera
Cytogenetic Map	8	p12	NCBI
HuRef	8	31,888,081 - 31,902,749 (-)	NCBI		HuRef
CHM1_1	8	33,557,468 - 33,572,158 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	33,770,062 - 33,784,485 (-)	NCBI		T2T-CHM13v2.0

Tti2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	31,640,344 - 31,654,731 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	31,640,343 - 31,654,730 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	31,150,316 - 31,164,703 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	31,150,315 - 31,164,702 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	32,260,788 - 32,275,175 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	32,612,938 - 32,626,989 (+)	NCBI		MGSCv36	mm8
Celera	8	32,675,816 - 32,689,769 (+)	NCBI		Celera
Cytogenetic Map	8	A3	NCBI
cM Map	8	18.03	NCBI

Tti2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	67,683,721 - 67,692,881 (-)	NCBI		GRCr8
mRatBN7.2	16	60,980,665 - 60,988,587 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	60,979,039 - 60,988,569 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	66,296,140 - 66,304,013 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	69,710,646 - 69,718,519 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	64,937,114 - 64,944,940 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	64,737,342 - 64,745,207 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	64,737,340 - 64,745,207 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	64,394,792 - 64,402,657 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	64,888,131 - 64,895,996 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	64,888,205 - 64,896,071 (-)	NCBI
Celera	16	58,985,407 - 58,993,272 (-)	NCBI		Celera
Cytogenetic Map	16	q12.3	NCBI

Tti2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955463	9,652,321 - 9,660,739 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955463	9,652,226 - 9,660,712 (-)	NCBI	ChiLan1.0	ChiLan1.0

TTI2
(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	52,073,956 - 52,088,135 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	27,789,252 - 27,803,786 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	32,813,830 - 32,828,134 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	30,000,487 - 30,014,742 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	30,000,487 - 30,014,742 (-)	Ensembl	panpan1.1		panPan2

TTI2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	31,160,666 - 31,169,576 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	31,160,894 - 31,167,749 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	31,685,785 - 31,692,922 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	33,188,068 - 33,196,955 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	16	33,188,385 - 33,202,688 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	16	31,284,224 - 31,293,118 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	16	31,863,304 - 31,870,474 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	16	31,902,111 - 31,911,013 (+)	NCBI		UU_Cfam_GSD_1.0

Tti2
(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_024404943	54,156,205 - 54,165,580 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936766	415,884 - 429,928 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936766	416,372 - 425,844 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TTI2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa10.2	15	59,534,435 - 59,547,568 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TTI2
(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	8	31,584,395 - 31,598,311 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	31,575,943 - 31,598,387 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666052	10,454,049 - 10,471,671 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tti2
(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_004624780	10,429,942 - 10,438,635 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624780	10,429,783 - 10,441,051 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TTI2
74 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter)	duplication	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001420618]\|not provided [RCV000727998]	Chr8:33500399..33500400 [GRCh38] Chr8:33357917..33357918 [GRCh37] Chr8:8p12	likely pathogenic\|uncertain significance
NM_001102401.4(TTI2):c.1100C>T (p.Pro367Leu)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV000074456]	Chr8:33503763 [GRCh38] Chr8:33361281 [GRCh37] Chr8:8p12	pathogenic
NM_001102401.4(TTI2):c.1307T>A (p.Ile436Asn)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV000074457]	Chr8:33500443 [GRCh38] Chr8:33357961 [GRCh37] Chr8:8p12	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	copy number gain	See cases [RCV000050904]	Chr8:25832130..48521849 [GRCh38] Chr8:25689646..49434409 [GRCh37] Chr8:25745563..49596962 [NCBI36] Chr8:8p21.2-q11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	copy number gain	See cases [RCV000051145]	Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12	pathogenic
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 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	copy number gain	See cases [RCV000050995]	Chr8:29719897..48521849 [GRCh38] Chr8:29577413..49434409 [GRCh37] Chr8:29633332..49596962 [NCBI36] Chr8:8p12-q11.21	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	copy number gain	See cases [RCV000053629]	Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|See cases [RCV000053631]	Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	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 8p23.3-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
NM_001102401.4(TTI2):c.539T>C (p.Leu180Pro)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV003236617]	Chr8:33512075 [GRCh38] Chr8:33369593 [GRCh37] Chr8:8p12	pathogenic
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
NM_001102401.4(TTI2):c.127_131delinsAA (p.Arg43_Arg44delinsLys)	indel	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001333762]	Chr8:33512483..33512487 [GRCh38] Chr8:33370001..33370005 [GRCh37] Chr8:8p12	uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	copy number loss	See cases [RCV000136878]	Chr8:29362097..40231708 [GRCh38] Chr8:29219614..40089227 [GRCh37] Chr8:29275533..40208384 [NCBI36] Chr8:8p12-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	copy number gain	See cases [RCV000138058]	Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12	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-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 8p12(chr8:30368765-36421541)x3	copy number gain	See cases [RCV000139926]	Chr8:30368765..36421541 [GRCh38] Chr8:30226281..36279059 [GRCh37] Chr8:30345823..36398222 [NCBI36] Chr8:8p12	uncertain significance
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 8p23.1-11.22(chr8:12729023-39235934)x3	copy number gain	See cases [RCV000139770]	Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	copy number gain	See cases [RCV000139549]	Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23	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-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 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-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 8p22-12(chr8:18972996-33619264)x1	copy number loss	See cases [RCV000142747]	Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12	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 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	copy number gain	See cases [RCV000511325]	Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22	pathogenic
Single allele	duplication	not provided [RCV000768452]	Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	copy number gain	See cases [RCV000446588]	Chr8:24772064..24813176 [GRCh37] Chr8:8p21.2-q12.1	uncertain significance
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 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	copy number gain	See cases [RCV000447913]	Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	copy number gain	See cases [RCV000448582]	Chr8:24514488..34808438 [GRCh37] Chr8:8p21.2-12	pathogenic
NM_001102401.4(TTI2):c.118C>T (p.Pro40Ser)	single nucleotide variant	not provided [RCV000971284]\|not specified [RCV000503368]	Chr8:33512496 [GRCh38] Chr8:33370014 [GRCh37] Chr8:8p12	benign\|likely benign
NM_001102401.4(TTI2):c.934C>T (p.Leu312Phe)	single nucleotide variant	not specified [RCV000503886]	Chr8:33503929 [GRCh38] Chr8:33361447 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.168T>C (p.Gly56=)	single nucleotide variant	not specified [RCV000501752]	Chr8:33512446 [GRCh38] Chr8:33369964 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1115+7C>G	single nucleotide variant	TTI2-related condition [RCV003962402]\|not provided [RCV000913237]\|not specified [RCV000501792]	Chr8:33503741 [GRCh38] Chr8:33361259 [GRCh37] Chr8:8p12	benign\|likely benign\|uncertain significance
NM_001102401.4(TTI2):c.1063C>T (p.Arg355Cys)	single nucleotide variant	not provided [RCV000966369]\|not specified [RCV000501889]	Chr8:33503800 [GRCh38] Chr8:33361318 [GRCh37] Chr8:8p12	likely benign\|uncertain significance
NM_001102401.4(TTI2):c.98T>G (p.Ile33Ser)	single nucleotide variant	not specified [RCV000499674]	Chr8:33512516 [GRCh38] Chr8:33370034 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.695C>T (p.Thr232Ile)	single nucleotide variant	Inborn genetic diseases [RCV003159634]\|Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001334771]\|not specified [RCV000499624]	Chr8:33509885 [GRCh38] Chr8:33367403 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1274T>G (p.Leu425Arg)	single nucleotide variant	not provided [RCV000904997]\|not specified [RCV000499756]	Chr8:33500476 [GRCh38] Chr8:33357994 [GRCh37] Chr8:8p12	likely benign\|uncertain significance
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 8p23.1-12(chr8:12528482-33684786)x3	copy number gain	See cases [RCV000510571]	Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12	pathogenic
NM_001102401.4(TTI2):c.980A>G (p.His327Arg)	single nucleotide variant	not specified [RCV000502679]	Chr8:33503883 [GRCh38] Chr8:33361401 [GRCh37] Chr8:8p12	uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	copy number gain	See cases [RCV000511028]	Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	copy number gain	See cases [RCV000510899]	Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12	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_001102401.4(TTI2):c.834+11T>G	single nucleotide variant	not provided [RCV000513992]	Chr8:33509735 [GRCh38] Chr8:33367253 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.914A>G (p.His305Arg)	single nucleotide variant	Inborn genetic diseases [RCV003287813]	Chr8:33507242 [GRCh38] Chr8:33364760 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.581G>C (p.Gly194Ala)	single nucleotide variant	not provided [RCV000514623]	Chr8:33512033 [GRCh38] Chr8:33369551 [GRCh37] Chr8:8p12	benign\|likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	copy number gain	not provided [RCV000683035]	Chr8:31352498..41481295 [GRCh37] Chr8:8p12-11.21	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	copy number gain	not provided [RCV000683043]	Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p12(chr8:30335124-33770070)x1	copy number loss	not provided [RCV000683024]	Chr8:30335124..33770070 [GRCh37] Chr8:8p12	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
NM_001102401.4(TTI2):c.258A>G (p.Ala86=)	single nucleotide variant	not provided [RCV000914366]	Chr8:33512356 [GRCh38] Chr8:33369874 [GRCh37] Chr8:8p12	likely benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	copy number gain	not provided [RCV000762735]	Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12	likely pathogenic
NM_001102401.4(TTI2):c.310G>A (p.Asp104Asn)	single nucleotide variant	not provided [RCV000928555]	Chr8:33512304 [GRCh38] Chr8:33369822 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.414A>C (p.Ala138=)	single nucleotide variant	not provided [RCV000900832]	Chr8:33512200 [GRCh38] Chr8:33369718 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.137A>G (p.Asn46Ser)	single nucleotide variant	not provided [RCV000971898]	Chr8:33512477 [GRCh38] Chr8:33369995 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1068T>C (p.Leu356=)	single nucleotide variant	not provided [RCV000899780]	Chr8:33503795 [GRCh38] Chr8:33361313 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1031G>A (p.Arg344Gln)	single nucleotide variant	TTI2-related condition [RCV003978159]\|not provided [RCV000947103]	Chr8:33503832 [GRCh38] Chr8:33361350 [GRCh37] Chr8:8p12	benign
NM_001102401.4(TTI2):c.723G>A (p.Leu241=)	single nucleotide variant	TTI2-related condition [RCV003970671]\|not provided [RCV000947104]	Chr8:33509857 [GRCh38] Chr8:33367375 [GRCh37] Chr8:8p12	benign
NM_001102401.4(TTI2):c.567A>G (p.Ala189=)	single nucleotide variant	not provided [RCV000881354]	Chr8:33512047 [GRCh38] Chr8:33369565 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1506C>T (p.Gly502=)	single nucleotide variant	not provided [RCV000943282]\|not specified [RCV001818920]	Chr8:33499194 [GRCh38] Chr8:33356712 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1086C>T (p.Tyr362=)	single nucleotide variant	not provided [RCV000929668]	Chr8:33503777 [GRCh38] Chr8:33361295 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1167T>C (p.Ile389=)	single nucleotide variant	not provided [RCV000980878]	Chr8:33503521 [GRCh38] Chr8:33361039 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.105C>T (p.His35=)	single nucleotide variant	not provided [RCV000924988]	Chr8:33512509 [GRCh38] Chr8:33370027 [GRCh37] Chr8:8p12	likely benign
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-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
GRCh37/hg19 8p12(chr8:29103983-35728509)x1	copy number loss	not provided [RCV000846377]	Chr8:29103983..35728509 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.276T>C (p.Tyr92=)	single nucleotide variant	not provided [RCV000932293]	Chr8:33512338 [GRCh38] Chr8:33369856 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.127C>A (p.Arg43=)	single nucleotide variant	not provided [RCV000879748]	Chr8:33512487 [GRCh38] Chr8:33370005 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.117C>T (p.Arg39=)	single nucleotide variant	not provided [RCV000933039]	Chr8:33512497 [GRCh38] Chr8:33370015 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1260-9T>C	single nucleotide variant	not provided [RCV000913622]	Chr8:33500499 [GRCh38] Chr8:33358017 [GRCh37] Chr8:8p12	likely benign
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	copy number loss	not provided [RCV002472596]	Chr8:26808969..38346383 [GRCh37] Chr8:8p21.2-11.22	pathogenic
NM_001102401.4(TTI2):c.1414C>T (p.Arg472Trp)	single nucleotide variant	Microcephaly [RCV001252790]	Chr8:33500336 [GRCh38] Chr8:33357854 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.21_22insAAGCGCTCTG (p.Glu8fs)	insertion	not provided [RCV001064876]	Chr8:33512592..33512593 [GRCh38] Chr8:33370110..33370111 [GRCh37] Chr8:8p12	pathogenic\|uncertain significance
NM_001102401.4(TTI2):c.1121_1122dup (p.Ile375fs)	duplication	not provided [RCV001091595]	Chr8:33503565..33503566 [GRCh38] Chr8:33361083..33361084 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1064G>A (p.Arg355His)	single nucleotide variant	Inborn genetic diseases [RCV004030278]\|Microcephaly [RCV001252791]\|Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001262440]	Chr8:33503799 [GRCh38] Chr8:33361317 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.55G>C (p.Glu19Gln)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001334770]	Chr8:33512559 [GRCh38] Chr8:33370077 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001330290]\|not specified [RCV001820021]	Chr8:33511976 [GRCh38] Chr8:33369494 [GRCh37] Chr8:8p12	likely benign\|uncertain significance
NM_001102401.4(TTI2):c.1001G>A (p.Arg334Gln)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001330289]	Chr8:33503862 [GRCh38] Chr8:33361380 [GRCh37] Chr8:8p12	uncertain significance
GRCh37/hg19 8p12(chr8:32691933-33893567)x3	copy number gain	not provided [RCV001270668]	Chr8:32691933..33893567 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.796C>G (p.Leu266Val)	single nucleotide variant	not provided [RCV001727442]	Chr8:33509784 [GRCh38] Chr8:33367302 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1297T>G (p.Leu433Val)	single nucleotide variant	Inborn genetic diseases [RCV003197447]	Chr8:33500453 [GRCh38] Chr8:33357971 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1250C>G (p.Thr417Ser)	single nucleotide variant	not specified [RCV001817532]	Chr8:33503438 [GRCh38] Chr8:33360956 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.489del (p.Pro162_Trp163insTer)	deletion	not specified [RCV001817766]	Chr8:33512125 [GRCh38] Chr8:33369643 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1107C>T (p.Phe369=)	single nucleotide variant	not specified [RCV001820230]	Chr8:33503756 [GRCh38] Chr8:33361274 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1135C>T (p.Arg379Trp)	single nucleotide variant	Inborn genetic diseases [RCV004040983]\|not specified [RCV001820386]	Chr8:33503553 [GRCh38] Chr8:33361071 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.188A>G (p.Glu63Gly)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001840961]\|TTI2-related condition [RCV003976233]	Chr8:33512426 [GRCh38] Chr8:33369944 [GRCh37] Chr8:8p12	benign
NM_001102401.4(TTI2):c.-99-31C>T	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001840963]	Chr8:33512743 [GRCh38] Chr8:33370261 [GRCh37] Chr8:8p12	benign
NM_001102401.4(TTI2):c.138T>C (p.Asn46=)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV001840962]\|TTI2-related condition [RCV003976234]	Chr8:33512476 [GRCh38] Chr8:33369994 [GRCh37] Chr8:8p12	benign
NM_001102401.4(TTI2):c.1397A>C (p.Asp466Ala)	single nucleotide variant	not specified [RCV002248918]	Chr8:33500353 [GRCh38] Chr8:33357871 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.575T>C (p.Leu192Pro)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV003236618]	Chr8:33512039 [GRCh38] Chr8:33369557 [GRCh37] Chr8:8p12	pathogenic
NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV002272951]	Chr8:33503777 [GRCh38] Chr8:33361295 [GRCh37] Chr8:8p12	uncertain significance
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
NM_001102401.4(TTI2):c.1075C>T (p.Arg359Cys)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV003236616]	Chr8:33503788 [GRCh38] Chr8:33361306 [GRCh37] Chr8:8p12	pathogenic
NM_001102401.4(TTI2):c.1259+2dup	duplication	not provided [RCV002305964]	Chr8:33503426..33503427 [GRCh38] Chr8:33360944..33360945 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV002463372]	Chr8:33503913 [GRCh38] Chr8:33361431 [GRCh37] Chr8:8p12	pathogenic\|likely pathogenic
NM_001102401.4(TTI2):c.985A>G (p.Lys329Glu)	single nucleotide variant	Inborn genetic diseases [RCV002753269]	Chr8:33503878 [GRCh38] Chr8:33361396 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1087G>A (p.Ala363Thr)	single nucleotide variant	Inborn genetic diseases [RCV002733655]	Chr8:33503776 [GRCh38] Chr8:33361294 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.647+1G>A	single nucleotide variant	Inborn genetic diseases [RCV002727864]	Chr8:33511966 [GRCh38] Chr8:33369484 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.446C>T (p.Pro149Leu)	single nucleotide variant	Inborn genetic diseases [RCV002758121]	Chr8:33512168 [GRCh38] Chr8:33369686 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1357G>A (p.Ala453Thr)	single nucleotide variant	Inborn genetic diseases [RCV002759784]	Chr8:33500393 [GRCh38] Chr8:33357911 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.713G>A (p.Arg238Gln)	single nucleotide variant	Inborn genetic diseases [RCV002768668]	Chr8:33509867 [GRCh38] Chr8:33367385 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.119C>T (p.Pro40Leu)	single nucleotide variant	Inborn genetic diseases [RCV002697467]	Chr8:33512495 [GRCh38] Chr8:33370013 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1166T>C (p.Ile389Thr)	single nucleotide variant	Inborn genetic diseases [RCV002986328]	Chr8:33503522 [GRCh38] Chr8:33361040 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1190G>A (p.Gly397Glu)	single nucleotide variant	Inborn genetic diseases [RCV002989287]	Chr8:33503498 [GRCh38] Chr8:33361016 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.569G>T (p.Gly190Val)	single nucleotide variant	Inborn genetic diseases [RCV002831002]\|not provided [RCV003443151]	Chr8:33512045 [GRCh38] Chr8:33369563 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1076G>A (p.Arg359His)	single nucleotide variant	Inborn genetic diseases [RCV002717427]	Chr8:33503787 [GRCh38] Chr8:33361305 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.764T>C (p.Ile255Thr)	single nucleotide variant	Inborn genetic diseases [RCV002748135]	Chr8:33509816 [GRCh38] Chr8:33367334 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.758T>C (p.Leu253Ser)	single nucleotide variant	Inborn genetic diseases [RCV003200530]	Chr8:33509822 [GRCh38] Chr8:33367340 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.160G>T (p.Asp54Tyr)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV003142899]	Chr8:33512454 [GRCh38] Chr8:33369972 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.709A>G (p.Thr237Ala)	single nucleotide variant	Inborn genetic diseases [RCV003179932]\|not provided [RCV003228145]	Chr8:33509871 [GRCh38] Chr8:33367389 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.955T>C (p.Phe319Leu)	single nucleotide variant	Inborn genetic diseases [RCV003340276]	Chr8:33503908 [GRCh38] Chr8:33361426 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1423G>A (p.Gly475Ser)	single nucleotide variant	Inborn genetic diseases [RCV003357578]	Chr8:33499277 [GRCh38] Chr8:33356795 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.215G>T (p.Gly72Val)	single nucleotide variant	Inborn genetic diseases [RCV003381106]	Chr8:33512399 [GRCh38] Chr8:33369917 [GRCh37] Chr8:8p12	uncertain significance
Single allele	duplication	not provided [RCV003448693]	Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	copy number gain	not provided [RCV003484722]	Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	copy number gain	not provided [RCV003484724]	Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	copy number gain	not provided [RCV003484725]	Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1	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
NM_001102401.4(TTI2):c.1399C>T (p.Arg467Cys)	single nucleotide variant	not provided [RCV003442681]	Chr8:33500351 [GRCh38] Chr8:33357869 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.750C>T (p.Pro250=)	single nucleotide variant	TTI2-related condition [RCV003954202]\|not provided [RCV003436856]	Chr8:33509830 [GRCh38] Chr8:33367348 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.290A>C (p.Lys97Thr)	single nucleotide variant	Inborn genetic diseases [RCV004364625]\|not provided [RCV003436857]	Chr8:33512324 [GRCh38] Chr8:33369842 [GRCh37] Chr8:8p12	likely benign\|uncertain significance
NM_001102401.4(TTI2):c.326C>T (p.Ala109Val)	single nucleotide variant	not provided [RCV003441304]	Chr8:33512288 [GRCh38] Chr8:33369806 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1038C>T (p.Ile346=)	single nucleotide variant	not provided [RCV003436855]	Chr8:33503825 [GRCh38] Chr8:33361343 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1117T>C (p.Leu373=)	single nucleotide variant	not provided [RCV003435457]	Chr8:33503571 [GRCh38] Chr8:33361089 [GRCh37] Chr8:8p12	likely benign
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
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	copy number gain	not specified [RCV003986767]	Chr8:20136266..43786723 [GRCh37] Chr8:8p21.3-11.1	pathogenic
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	copy number gain	not specified [RCV003986754]	Chr8:27024288..89410121 [GRCh37] Chr8:8p21.2-q21.3	pathogenic
NM_001102401.4(TTI2):c.356T>C (p.Leu119Pro)	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV003991971]	Chr8:33512258 [GRCh38] Chr8:33369776 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.-100+1G>A	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV003994751]	Chr8:33513081 [GRCh38] Chr8:33370599 [GRCh37] Chr8:8p12	benign
NM_001102401.4(TTI2):c.585A>G (p.Glu195=)	single nucleotide variant	TTI2-related condition [RCV003961973]	Chr8:33512029 [GRCh38] Chr8:33369547 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.796C>T (p.Leu266=)	single nucleotide variant	TTI2-related condition [RCV003941828]	Chr8:33509784 [GRCh38] Chr8:33367302 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.687C>T (p.Phe229=)	single nucleotide variant	TTI2-related condition [RCV003943949]	Chr8:33509893 [GRCh38] Chr8:33367411 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.1115+2T>C	single nucleotide variant	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome [RCV003990681]	Chr8:33503746 [GRCh38] Chr8:33361264 [GRCh37] Chr8:8p12	likely pathogenic
NM_001102401.4(TTI2):c.1030C>T (p.Arg344Trp)	single nucleotide variant	Inborn genetic diseases [RCV004479372]	Chr8:33503833 [GRCh38] Chr8:33361351 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1426C>G (p.Leu476Val)	single nucleotide variant	Inborn genetic diseases [RCV004479373]	Chr8:33499274 [GRCh38] Chr8:33356792 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1439T>G (p.Ile480Ser)	single nucleotide variant	Inborn genetic diseases [RCV004479374]	Chr8:33499261 [GRCh38] Chr8:33356779 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.1475A>G (p.Tyr492Cys)	single nucleotide variant	Inborn genetic diseases [RCV004479375]	Chr8:33499225 [GRCh38] Chr8:33356743 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.448G>A (p.Val150Ile)	single nucleotide variant	Inborn genetic diseases [RCV004479376]	Chr8:33512166 [GRCh38] Chr8:33369684 [GRCh37] Chr8:8p12	likely benign
NM_001102401.4(TTI2):c.668C>T (p.Pro223Leu)	single nucleotide variant	Inborn genetic diseases [RCV004479378]	Chr8:33509912 [GRCh38] Chr8:33367430 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.687C>G (p.Phe229Leu)	single nucleotide variant	Inborn genetic diseases [RCV004479379]	Chr8:33509893 [GRCh38] Chr8:33367411 [GRCh37] Chr8:8p12	uncertain significance
NM_001102401.4(TTI2):c.908C>G (p.Pro303Arg)	single nucleotide variant	Inborn genetic diseases [RCV004479380]	Chr8:33507248 [GRCh38] Chr8:33364766 [GRCh37] Chr8:8p12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1025
Count of miRNA genes:	576
Interacting mature miRNAs:	660
Transcripts:	ENST00000360742, ENST00000431156, ENST00000519356, ENST00000520636, ENST00000523305
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

SHGC-32777

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	33,356,624 - 33,356,750	UniSTS	GRCh37
Build 36	8	33,476,166 - 33,476,292	RGD	NCBI36
Celera	8	32,306,329 - 32,306,455	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	31,888,678 - 31,888,804	UniSTS
TNG Radiation Hybrid Map	11	33785.0	UniSTS
Stanford-G3 RH Map	8	1490.0	UniSTS
GeneMap99-GB4 RH Map	8	123.58	UniSTS
Whitehead-RH Map	8	127.9	UniSTS
NCBI RH Map	8	462.3	UniSTS
GeneMap99-G3 RH Map	8	1580.0	UniSTS

G29147

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	33,358,561 - 33,358,694	UniSTS	GRCh37
Build 36	8	33,478,103 - 33,478,236	RGD	NCBI36
Celera	8	32,308,266 - 32,308,399	RGD
Cytogenetic Map	8	p12	UniSTS
HuRef	8	31,890,615 - 31,890,748	UniSTS

27STS02

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	33,355,965 - 33,356,126	UniSTS	GRCh37
Celera	8	32,305,670 - 32,305,831	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

617

270

110

500

178

Low

2344

2937

1696

615

1320

456

4087

2120

3591

349

960

1435

168

1203

2768

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001102401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001265581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001330505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_025115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047422266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC091144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI890434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL530920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC066935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM550924	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA617987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB047280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB099592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB112682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB113350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000360742 ⟹ ENSP00000353971

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	33,498,954 - 33,513,109 (-)	Ensembl

RefSeq Acc Id:

ENST00000431156 ⟹ ENSP00000411169

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	33,498,722 - 33,513,135 (-)	Ensembl

RefSeq Acc Id:

ENST00000519356

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	33,473,386 - 33,509,785 (-)	Ensembl

RefSeq Acc Id:

ENST00000520636 ⟹ ENSP00000428401

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	33,499,118 - 33,512,712 (-)	Ensembl

RefSeq Acc Id:

ENST00000523305 ⟹ ENSP00000428569

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	33,512,311 - 33,513,119 (-)	Ensembl

RefSeq Acc Id:

ENST00000613904 ⟹ ENSP00000478396

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	33,498,509 - 33,513,185 (-)	Ensembl

RefSeq Acc Id:

NM_001102401 ⟹ NP_001095871

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	33,498,722 - 33,513,135 (-)	NCBI
GRCh37	8	33,356,027 - 33,370,703 (-)	NCBI
Build 36	8	33,475,775 - 33,490,245 (-)	NCBI Archive
Celera	8	32,305,939 - 32,320,408 (-)	RGD
HuRef	8	31,888,081 - 31,902,749 (-)	NCBI
CHM1_1	8	33,557,468 - 33,572,158 (-)	NCBI
T2T-CHM13v2.0	8	33,770,062 - 33,784,485 (-)	NCBI

Sequence:

show sequence

AATATGAGCTAGGTCCGGATCCTGTTAGACACCGGCGGGCGCGAGCCGTTGCAGTTCTCTTTGG
GTGATCGCTCCTTCCCTCTTCAACGGATCCCTCCCCGCCTCCATCCTCGTTCTGTGGGAGAGAC
CAGCCTTCTGGTGCTGCAGTCAGGAATGGAGCTTGACAGCGCTCTGGAAGCCCCATCGCAGGAA
GACTCTAATTTGTCCGAGGAGTTGTCTCACTCCGCCTTTGGACAGGCCTTCTCCAAGATTTTAC
ACTGTCTTGCCCGCCCGGAGGCACGACGAGGCAATGTAAAAGATGCAGTTCTTAAAGACCTCGG
TGATCTAATAGAAGCCACAGAATTTGATAGGTTATTTGAGGGGACTGGTGCACGGCTCCGCGGA
ATGCCGGAGACACTGGGGCAGGTAGCAAAAGCCCTGGAGAAGTATGCAGCCCCCTCCAAGGAGG
AGGAAGGTGGAGGTGATGGGCACTCCGAAGCGGCCGAGAAAGCAGCCCAAGTTGGGTTACTGTT
TCTTAAACTGTTAGGGAAAGTTGAGACTGCTAAGAATTCCCTGGTCGGCCCTGCATGGCAGACG
GGCCTGCATCACTTGGCAGGACCCGTTTATATTTTTGCCATCACACACAGCTTGGAGCAACCAT
GGACCACTCCGAGATCTCGGGAAGTTGCTAGGGAGGTGCTCACCTCACTGCTTCAAGTTACTGA
ATGCGGTTCTGTGGCAGGATTCCTACATGGAGAAAATGAAGATGAGAAAGGGAGACTTTCGGTG
ATACTAGGGCTTCTCAAACCCGACTTGTATAAGGAATCCTGGAAGAATAACCCTGCCATCAAAC
ATGTTTTCTCATGGACTCTGCAACAGGTCACTCGGCCCTGGCTGAGCCAGCATCTGGAAAGGGT
ACTTCCCGCATCATTGGTCATTTCAGATGACTATCAGACTGAGAACAAAATCCTGGGTGTACAC
TGTCTCCATCACATTGTGCTTAATGTGCCAGCTGCTGATTTGCTCCAGTATAACAGAGCCCAGG
TCCTATACCATGCCATTTCCAACCACCTGTACACACCAGAGCACCACCTCATTCAGGCTGTGCT
CCTGTGTCTGCTGGATTTATTCCCCATCCTGGAGAAAACCCTGCACTGGAAAGGAGATGGAGCT
CGACCCACCACCCATTGTGATGAGGTCCTGCGGCTGATCCTGACCCACATGGAGCCAGAGCACC
GCCTTCTTTTACGCAGGACCTACGCAAGAAACCTGCCGGCTTTCGTGAACAGGTTGGGGATCCT
AACTGTCCGGCACTTAAAGAGGCTGGAGAGAGTCATCATTGGTTATCTGGAGGTTTATGATGGA
CCTGAGGAGGAAGCTAGACTGAAGATATTGGAAACCCTAAAACTTCTCATGCAACATACTTGGC
CCAGAGTTTCCTGCAGACTTGTGGTCTTACTGAAGGCCCTCTTGAAACTGATTTGTGATGTAGC
AAGGGATCCAAACCTTACACCTGAGTCTGTTAAGAGCGCCCTGCTACAGGAGGCCACAGACTGC
CTGATTCTCCTGGACCGCTGTTCTCAAGGACGGGTAAAGGGTCTCCTGGCCAAAATTCCCCAAA
GCTGTGAAGACAGAAAAGTGGTGAACTATATCAGAAAAGTGCAGCAGGTTTCTGAAGGCGCACC
CTACAATGGAACTTAAGACTTGTATTACTTTCCCAAGAGGAAAGGATTTTCTTCCCATCCCAAT
TTGTATGAATGGAGTTATTTAAGAAAAAAAGATATTTTTACACGAAACTTTGTAAGTGAAAGCT
GCTTTTTCCTTCCTTCCTTTCCTTTTACCTCCATAAGAATAGGGAAAGTAGAACAAGAAAAAAT
TGAACTCCTTCCATTTCTAAATAAAGTTTGGGAGAAAAAAGGACACCAAGTAATGTAGCATTTA
AAATTTAGAAATATTTACATCCGTCATCTCATCCCAGATTCAAGAACTCATCTGTTAAGTTTCT
CGGGCACAAGCTGTTACTTCAACACATATGCTATAAAAACACTCTTGTTCACAACTTAGCTTTC
TTCACTCACTCCAGATTTCTTGCCCCACTGACGTGGCATAAATAATAAAAACACAAATATTGTG
TTCAGTACAACACAAAAGA

hide sequence

RefSeq Acc Id:

NM_001265581 ⟹ NP_001252510

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	33,498,722 - 33,513,135 (-)	NCBI
GRCh37	8	33,356,027 - 33,370,703 (-)	NCBI
HuRef	8	31,888,081 - 31,902,749 (-)	NCBI
CHM1_1	8	33,557,468 - 33,572,158 (-)	NCBI
T2T-CHM13v2.0	8	33,770,062 - 33,784,485 (-)	NCBI

Sequence:

show sequence

AATATGAGCTAGGTCCGGATCCTGTTAGACACCGGCGGGCGCGAGCCGTTGCAGGTACCTGGGG
GTGGTTAAGTTGGTGACATGGCTCAGAAGTTTATTTCTTTAAATTTTTAAGTTTTTTTTCTTTT
TAGTCTTCAGAAAGGCAACAGTAGTCTTTTAACGTCACTGTTAAAAGTTTCTCTTTGGGTGATC
GCTCCTTCCCTCTTCAACGGATCCCTCCCCGCCTCCATCCTCGTTCTGTGGGAGAGACCAGCCT
TCTGGTGCTGCAGTCAGGAATGGAGCTTGACAGCGCTCTGGAAGCCCCATCGCAGGAAGACTCT
AATTTGTCCGAGGAGTTGTCTCACTCCGCCTTTGGACAGGCCTTCTCCAAGATTTTACACTGTC
TTGCCCGCCCGGAGGCACGACGAGGCAATGTAAAAGATGCAGTTCTTAAAGACCTCGGTGATCT
AATAGAAGCCACAGAATTTGATAGGTTATTTGAGGGGACTGGTGCACGGCTCCGCGGAATGCCG
GAGACACTGGGGCAGGTAGCAAAAGCCCTGGAGAAGTATGCAGCCCCCTCCAAGGAGGAGGAAG
GTGGAGGTGATGGGCACTCCGAAGCGGCCGAGAAAGCAGCCCAAGTTGGGTTACTGTTTCTTAA
ACTGTTAGGGAAAGTTGAGACTGCTAAGAATTCCCTGGTCGGCCCTGCATGGCAGACGGGCCTG
CATCACTTGGCAGGACCCGTTTATATTTTTGCCATCACACACAGCTTGGAGCAACCATGGACCA
CTCCGAGATCTCGGGAAGTTGCTAGGGAGGTGCTCACCTCACTGCTTCAAGTTACTGAATGCGG
TTCTGTGGCAGGATTCCTACATGGAGAAAATGAAGATGAGAAAGGGAGACTTTCGGTGATACTA
GGGCTTCTCAAACCCGACTTGTATAAGGAATCCTGGAAGAATAACCCTGCCATCAAACATGTTT
TCTCATGGACTCTGCAACAGGTCACTCGGCCCTGGCTGAGCCAGCATCTGGAAAGGGTACTTCC
CGCATCATTGGTCATTTCAGATGACTATCAGACTGAGAACAAAATCCTGGGTGTACACTGTCTC
CATCACATTGTGCTTAATGTGCCAGCTGCTGATTTGCTCCAGTATAACAGAGCCCAGGTCCTAT
ACCATGCCATTTCCAACCACCTGTACACACCAGAGCACCACCTCATTCAGGCTGTGCTCCTGTG
TCTGCTGGATTTATTCCCCATCCTGGAGAAAACCCTGCACTGGAAAGGAGATGGAGCTCGACCC
ACCACCCATTGTGATGAGGTCCTGCGGCTGATCCTGACCCACATGGAGCCAGAGCACCGCCTTC
TTTTACGCAGGACCTACGCAAGAAACCTGCCGGCTTTCGTGAACAGGTTGGGGATCCTAACTGT
CCGGCACTTAAAGAGGCTGGAGAGAGTCATCATTGGTTATCTGGAGGTTTATGATGGACCTGAG
GAGGAAGCTAGACTGAAGATATTGGAAACCCTAAAACTTCTCATGCAACATACTTGGCCCAGAG
TTTCCTGCAGACTTGTGGTCTTACTGAAGGCCCTCTTGAAACTGATTTGTGATGTAGCAAGGGA
TCCAAACCTTACACCTGAGTCTGTTAAGAGCGCCCTGCTACAGGAGGCCACAGACTGCCTGATT
CTCCTGGACCGCTGTTCTCAAGGACGGGTAAAGGGTCTCCTGGCCAAAATTCCCCAAAGCTGTG
AAGACAGAAAAGTGGTGAACTATATCAGAAAAGTGCAGCAGGTTTCTGAAGGCGCACCCTACAA
TGGAACTTAAGACTTGTATTACTTTCCCAAGAGGAAAGGATTTTCTTCCCATCCCAATTTGTAT
GAATGGAGTTATTTAAGAAAAAAAGATATTTTTACACGAAACTTTGTAAGTGAAAGCTGCTTTT
TCCTTCCTTCCTTTCCTTTTACCTCCATAAGAATAGGGAAAGTAGAACAAGAAAAAATTGAACT
CCTTCCATTTCTAAATAAAGTTTGGGAGAAAAAAGGACACCAAGTAATGTAGCATTTAAAATTT
AGAAATATTTACATCCGTCATCTCATCCCAGATTCAAGAACTCATCTGTTAAGTTTCTCGGGCA
CAAGCTGTTACTTCAACACATATGCTATAAAAACACTCTTGTTCACAACTTAGCTTTCTTCACT
CACTCCAGATTTCTTGCCCCACTGACGTGGCATAAATAATAAAAACACAAATATTGTGTTCAGT
ACAACACAAAAGA

hide sequence

RefSeq Acc Id:

NM_001330505 ⟹ NP_001317434

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	33,498,722 - 33,513,135 (-)	NCBI
T2T-CHM13v2.0	8	33,770,062 - 33,784,485 (-)	NCBI

Sequence:

show sequence

AATATGAGCTAGGTCCGGATCCTGTTAGACACCGGCGGGCGCGAGCCGTTGCAGTTCTCTTTGG
GTGATCGCTCCTTCCCTCTTCAACGGATCCCTCCCCGCCTCCATCCTCGTTCTGTGGGAGAGAC
CAGCCTTCTGGTGCTGCAGTCAGGAATGGAGCTTGACAGCGCTCTGGAAGCCCCATCGCAGGAA
GACTCTAATTTGTCCGAGGAGTTGTCTCACTCCGCCTTTGGACAGGCCTTCTCCAAGATTTTAC
ACTGTCTTGCCCGCCCGGAGGCACGACGAGGCAATGTAAAAGATGCAGTTCTTAAAGACCTCGG
TGATCTAATAGAAGCCACAGAATTTGATAGGTTATTTGAGGGGACTGGTGCACGGCTCCGCGGA
ATGCCGGAGACACTGGGGCAGGTAGCAAAAGCCCTGGAGAAGTATGCAGCCCCCTCCAAGGAGG
AGGAAGGTGGAGGTGATGGGCACTCCGAAGCGGCCGAGAAAGCAGCCCAAGTTGGGTTACTGTT
TCTTAAACTGTTAGGGAAAGTTGAGACTGCTAAGAATTCCCTGGTCGGCCCTGCATGGCAGACG
GGCCTGCATCACTTGGCAGGACCCGTTTATATTTTTGCCATCACACACAGCTTGGAGCAACCAT
GGACCACTCCGAGATCTCGGGAAGTTGCTAGGGAGGTGCTCACCTCACTGCTTCAAGTTACTGA
ATGCGGTTCTGTGGCAGGATTCCTACATGGAGAAAATGAAGATGAGAAAGGGAGACTTTCGGTG
ATACTAGGGCTTCTCAAACCCGACTTGTATAAGGAATCCTGGAAGAATAACCCTGCCATCAAAC
ATGTTTTCTCATGGACTCTGCAACAGGTCACTCGGCCCTGGCTGAGCCAGCATCTGGAAAGGGT
ACTTCCCGCATCATTGGTCATTTCAGATGACTATCAGACTGAGAACAAAATCCTGGGTGTACAC
TGTCTCCATCACATTGTGCTTAATGTGGCTGTGCTCCTGTGTCTGCTGGATTTATTCCCCATCC
TGGAGAAAACCCTGCACTGGAAAGGAGATGGAGCTCGACCCACCACCCATTGTGATGAGGTCCT
GCGGCTGATCCTGACCCACATGGAGCCAGAGCACCGCCTTCTTTTACGCAGGACCTACGCAAGA
AACCTGCCGGCTTTCGTGAACAGGTTGGGGATCCTAACTGTCCGGCACTTAAAGAGGCTGGAGA
GAGTCATCATTGGTTATCTGGAGGTTTATGATGGACCTGAGGAGGAAGCTAGACTGAAGATATT
GGAAACCCTAAAACTTCTCATGCAACATACTTGGCCCAGAGTTTCCTGCAGACTTGTGGTCTTA
CTGAAGGCCCTCTTGAAACTGATTTGTGATGTAGCAAGGGATCCAAACCTTACACCTGAGTCTG
TTAAGAGCGCCCTGCTACAGGAGGCCACAGACTGCCTGATTCTCCTGGACCGCTGTTCTCAAGG
ACGGGTAAAGGGTCTCCTGGCCAAAATTCCCCAAAGCTGTGAAGACAGAAAAGTGGTGAACTAT
ATCAGAAAAGTGCAGCAGGTTTCTGAAGGCGCACCCTACAATGGAACTTAAGACTTGTATTACT
TTCCCAAGAGGAAAGGATTTTCTTCCCATCCCAATTTGTATGAATGGAGTTATTTAAGAAAAAA
AGATATTTTTACACGAAACTTTGTAAGTGAAAGCTGCTTTTTCCTTCCTTCCTTTCCTTTTACC
TCCATAAGAATAGGGAAAGTAGAACAAGAAAAAATTGAACTCCTTCCATTTCTAAATAAAGTTT
GGGAGAAAAAAGGACACCAAGTAATGTAGCATTTAAAATTTAGAAATATTTACATCCGTCATCT
CATCCCAGATTCAAGAACTCATCTGTTAAGTTTCTCGGGCACAAGCTGTTACTTCAACACATAT
GCTATAAAAACACTCTTGTTCACAACTTAGCTTTCTTCACTCACTCCAGATTTCTTGCCCCACT
GACGTGGCATAAATAATAAAAACACAAATATTGTGTTCAGTACAACACAAAAGA

hide sequence

RefSeq Acc Id:

NM_025115 ⟹ NP_079391

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	33,498,722 - 33,513,135 (-)	NCBI
GRCh37	8	33,356,027 - 33,370,703 (-)	NCBI
Build 36	8	33,475,775 - 33,490,198 (-)	NCBI Archive
Celera	8	32,305,939 - 32,320,408 (-)	RGD
HuRef	8	31,888,081 - 31,902,749 (-)	NCBI
CHM1_1	8	33,557,468 - 33,572,158 (-)	NCBI
T2T-CHM13v2.0	8	33,770,062 - 33,784,485 (-)	NCBI

Sequence:

show sequence

AATATGAGCTAGGTCCGGATCCTGTTAGACACCGGCGGGCGCGAGCCGTTGCAGGTACCTGGGG
GTGGTTAAGTTGGTGACATGGCTCAGAAGTTTATTTCTTTAAATTTTTAAGTTTTTTTTCTTTT
TAGTCTTCAGAAAGGCAACAGTAGTCTTTTAACGTCACTGTTAAAAGTGTAAGACTCTTTTACT
CCCTGAGAGTCCCCTTTCCCTTTCTTGCGTCCTTTCCTCTTTATTCTTTTTTTTTTTTTTTTTT
TTACTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT
GCAAACTCCGCCTCCCGGGTTCACCCTTTCTCTTTATTCTTATCCCGGTCAGACTCGCCCCCTC
CTCCAAGACATCTCTCTGTTTTATTTTATTTGATTTTAGTTCTCTTTGGGTGATCGCTCCTTCC
CTCTTCAACGGATCCCTCCCCGCCTCCATCCTCGTTCTGTGGGAGAGACCAGCCTTCTGGTGCT
GCAGTCAGGAATGGAGCTTGACAGCGCTCTGGAAGCCCCATCGCAGGAAGACTCTAATTTGTCC
GAGGAGTTGTCTCACTCCGCCTTTGGACAGGCCTTCTCCAAGATTTTACACTGTCTTGCCCGCC
CGGAGGCACGACGAGGCAATGTAAAAGATGCAGTTCTTAAAGACCTCGGTGATCTAATAGAAGC
CACAGAATTTGATAGGTTATTTGAGGGGACTGGTGCACGGCTCCGCGGAATGCCGGAGACACTG
GGGCAGGTAGCAAAAGCCCTGGAGAAGTATGCAGCCCCCTCCAAGGAGGAGGAAGGTGGAGGTG
ATGGGCACTCCGAAGCGGCCGAGAAAGCAGCCCAAGTTGGGTTACTGTTTCTTAAACTGTTAGG
GAAAGTTGAGACTGCTAAGAATTCCCTGGTCGGCCCTGCATGGCAGACGGGCCTGCATCACTTG
GCAGGACCCGTTTATATTTTTGCCATCACACACAGCTTGGAGCAACCATGGACCACTCCGAGAT
CTCGGGAAGTTGCTAGGGAGGTGCTCACCTCACTGCTTCAAGTTACTGAATGCGGTTCTGTGGC
AGGATTCCTACATGGAGAAAATGAAGATGAGAAAGGGAGACTTTCGGTGATACTAGGGCTTCTC
AAACCCGACTTGTATAAGGAATCCTGGAAGAATAACCCTGCCATCAAACATGTTTTCTCATGGA
CTCTGCAACAGGTCACTCGGCCCTGGCTGAGCCAGCATCTGGAAAGGGTACTTCCCGCATCATT
GGTCATTTCAGATGACTATCAGACTGAGAACAAAATCCTGGGTGTACACTGTCTCCATCACATT
GTGCTTAATGTGCCAGCTGCTGATTTGCTCCAGTATAACAGAGCCCAGGTCCTATACCATGCCA
TTTCCAACCACCTGTACACACCAGAGCACCACCTCATTCAGGCTGTGCTCCTGTGTCTGCTGGA
TTTATTCCCCATCCTGGAGAAAACCCTGCACTGGAAAGGAGATGGAGCTCGACCCACCACCCAT
TGTGATGAGGTCCTGCGGCTGATCCTGACCCACATGGAGCCAGAGCACCGCCTTCTTTTACGCA
GGACCTACGCAAGAAACCTGCCGGCTTTCGTGAACAGGTTGGGGATCCTAACTGTCCGGCACTT
AAAGAGGCTGGAGAGAGTCATCATTGGTTATCTGGAGGTTTATGATGGACCTGAGGAGGAAGCT
AGACTGAAGATATTGGAAACCCTAAAACTTCTCATGCAACATACTTGGCCCAGAGTTTCCTGCA
GACTTGTGGTCTTACTGAAGGCCCTCTTGAAACTGATTTGTGATGTAGCAAGGGATCCAAACCT
TACACCTGAGTCTGTTAAGAGCGCCCTGCTACAGGAGGCCACAGACTGCCTGATTCTCCTGGAC
CGCTGTTCTCAAGGACGGGTAAAGGGTCTCCTGGCCAAAATTCCCCAAAGCTGTGAAGACAGAA
AAGTGGTGAACTATATCAGAAAAGTGCAGCAGGTTTCTGAAGGCGCACCCTACAATGGAACTTA
AGACTTGTATTACTTTCCCAAGAGGAAAGGATTTTCTTCCCATCCCAATTTGTATGAATGGAGT
TATTTAAGAAAAAAAGATATTTTTACACGAAACTTTGTAAGTGAAAGCTGCTTTTTCCTTCCTT
CCTTTCCTTTTACCTCCATAAGAATAGGGAAAGTAGAACAAGAAAAAATTGAACTCCTTCCATT
TCTAAATAAAGTTTGGGAGAAAAAAGGACACCAAGTAATGTAGCATTTAAAATTTAGAAATATT
TACATCCGTCATCTCATCCCAGATTCAAGAACTCATCTGTTAAGTTTCTCGGGCACAAGCTGTT
ACTTCAACACATATGCTATAAAAACACTCTTGTTCACAACTTAGCTTTCTTCACTCACTCCAGA
TTTCTTGCCCCACTGACGTGGCATAAATAATAAAAACACAAATATTGTGTTCAGTACAACACAA
AAGA

hide sequence

RefSeq Acc Id:

XM_047422266 ⟹ XP_047278222

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	33,498,722 - 33,513,135 (-)	NCBI

RefSeq Acc Id:

XM_054361287 ⟹ XP_054217262

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	33,770,062 - 33,784,485 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001095871	(Get FASTA)	NCBI Sequence Viewer
	NP_001252510	(Get FASTA)	NCBI Sequence Viewer
	NP_001317434	(Get FASTA)	NCBI Sequence Viewer
	NP_079391	(Get FASTA)	NCBI Sequence Viewer
	XP_047278222	(Get FASTA)	NCBI Sequence Viewer
	XP_054217262	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH07387	(Get FASTA)	NCBI Sequence Viewer
	AAH66935	(Get FASTA)	NCBI Sequence Viewer
	BAB15590	(Get FASTA)	NCBI Sequence Viewer
	CAK32283	(Get FASTA)	NCBI Sequence Viewer
	EAW63397	(Get FASTA)	NCBI Sequence Viewer
	EAW63398	(Get FASTA)	NCBI Sequence Viewer
	EAW63399	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000353971
	ENSP00000353971.5
	ENSP00000411169
	ENSP00000411169.3
	ENSP00000428401
	ENSP00000428401.1
	ENSP00000428569.1
	ENSP00000478396
	ENSP00000478396.1
GenBank Protein	Q6NXR4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001095871 ⟸ NM_001102401
- Peptide Label:	isoform 1
- UniProtKB:	Q96IM2 (UniProtKB/Swiss-Prot), D3DSV7 (UniProtKB/Swiss-Prot), Q9H5N4 (UniProtKB/Swiss-Prot), Q6NXR4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEF DRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVE TAKNSLVGPAWQTGLHHLAGPVYIFAITHSLEQPWTTPRSREVAREVLTSLLQVTECGSVAGFL HGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPWLSQHLERVLPASLVIS DDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRL ERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPE SVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT hide sequence

RefSeq Acc Id:	NP_079391 ⟸ NM_025115
- Peptide Label:	isoform 1
- UniProtKB:	Q96IM2 (UniProtKB/Swiss-Prot), D3DSV7 (UniProtKB/Swiss-Prot), Q9H5N4 (UniProtKB/Swiss-Prot), Q6NXR4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEF DRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVE TAKNSLVGPAWQTGLHHLAGPVYIFAITHSLEQPWTTPRSREVAREVLTSLLQVTECGSVAGFL HGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPWLSQHLERVLPASLVIS DDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRL ERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPE SVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT hide sequence

RefSeq Acc Id:	NP_001252510 ⟸ NM_001265581
- Peptide Label:	isoform 1
- UniProtKB:	Q96IM2 (UniProtKB/Swiss-Prot), D3DSV7 (UniProtKB/Swiss-Prot), Q9H5N4 (UniProtKB/Swiss-Prot), Q6NXR4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEF DRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVE TAKNSLVGPAWQTGLHHLAGPVYIFAITHSLEQPWTTPRSREVAREVLTSLLQVTECGSVAGFL HGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPWLSQHLERVLPASLVIS DDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGILTVRHLKRL ERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPE SVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT hide sequence

RefSeq Acc Id:	NP_001317434 ⟸ NM_001330505
- Peptide Label:	isoform 2
- UniProtKB:	E5RIH5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEF DRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVE TAKNSLVGPAWQTGLHHLAGPVYIFAITHSLEQPWTTPRSREVAREVLTSLLQVTECGSVAGFL HGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPWLSQHLERVLPASLVIS DDYQTENKILGVHCLHHIVLNVAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHME PEHRLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQ HTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAK IPQSCEDRKVVNYIRKVQQVSEGAPYNGT hide sequence

RefSeq Acc Id:

ENSP00000353971 ⟸ ENST00000360742

RefSeq Acc Id:

ENSP00000478396 ⟸ ENST00000613904

RefSeq Acc Id:

ENSP00000428401 ⟸ ENST00000520636

RefSeq Acc Id:

ENSP00000428569 ⟸ ENST00000523305

RefSeq Acc Id:

ENSP00000411169 ⟸ ENST00000431156

RefSeq Acc Id:	XP_047278222 ⟸ XM_047422266
- Peptide Label:	isoform X1
- UniProtKB:	E5RIH5 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054217262 ⟸ XM_054361287
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6NXR4-F1-model_v2	AlphaFold	Q6NXR4	1-508	view protein structure

Promoters

RGD ID:

6806537

Promoter ID:

HG_KWN:61090

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

UC010LVU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	33,477,181 - 33,477,681 (-)	MPROMDB

RGD ID:

6806536

Promoter ID:

HG_KWN:61091

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001102401, NM_025115, UC003XJK.2, UC003XJN.1, UC010LVV.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	8	33,490,351 - 33,490,851 (-)	MPROMDB

RGD ID:

7213075

Promoter ID:

EPDNEW_H12283

Type:

initiation region

Name:

C8orf41_1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	33,513,109 - 33,513,169	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:26262	AgrOrtholog
COSMIC	TTI2	COSMIC
Ensembl Genes	ENSG00000129696	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000360742	ENTREZGENE
	ENST00000360742.9	UniProtKB/Swiss-Prot
	ENST00000431156	ENTREZGENE
	ENST00000431156.7	UniProtKB/Swiss-Prot
	ENST00000520636	ENTREZGENE
	ENST00000520636.5	UniProtKB/TrEMBL
	ENST00000523305.1	UniProtKB/TrEMBL
	ENST00000613904	ENTREZGENE
	ENST00000613904.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000129696	GTEx
HGNC ID	HGNC:26262	ENTREZGENE
Human Proteome Map	TTI2	Human Proteome Map
InterPro	ARM-type_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tti2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:80185	UniProtKB/Swiss-Prot
NCBI Gene	80185	ENTREZGENE
OMIM	614426	OMIM
PANTHER	PTHR32226	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TELO2-INTERACTING PROTEIN 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Tti2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142672360	PharmGKB
Superfamily-SCOP	SSF48371	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	D3DSV7	ENTREZGENE
	E5RHM7_HUMAN	UniProtKB/TrEMBL
	E5RIH5	ENTREZGENE, UniProtKB/TrEMBL
	Q6NXR4	ENTREZGENE
	Q96IM2	ENTREZGENE
	Q9H5N4	ENTREZGENE
	TTI2_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	D3DSV7	UniProtKB/Swiss-Prot
	Q96IM2	UniProtKB/Swiss-Prot
	Q9H5N4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-11-22	TTI2	TELO2 interacting protein 2	TTI2	Tel2 interacting protein 2 homolog (S. pombe)	Symbol and/or name change	5135510	APPROVED
2011-09-27	TTI2	Tel2 interacting protein 2 homolog (S. pombe)	C8orf41	chromosome 8 open reading frame 41	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar