AC011095.1 (novel transcript) - Rat Genome Database

Name: AC011095.1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: AC011095.1 (novel transcript) Homo sapiens

Analyze

Symbol:

AC011095.1

Name:

novel transcript

RGD ID:

16563754

Description:

ASSOCIATED WITH chromosome 18q deletion syndrome; pulmonary valve stenosis; Pulmonic stenosis

Type:

ncrna (Ensembl: lncRNA)

RefSeq Status:

VALIDATED

Previously known as:

LOC339298; uncharacterized LOC339298

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	76,122,998 - 76,145,255 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	76,122,968 - 76,145,259 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	73,834,953 - 73,857,210 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	18	q23	NCBI
HuRef	18	70,519,425 - 70,541,689 (+)	NCBI		HuRef
CHM1_1	18	73,829,783 - 73,852,424 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	76,352,035 - 76,374,299 (+)	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

chromosome 18q deletion syndrome (IAGP)

pulmonary valve stenosis (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Pulmonic stenosis (IAGP)

References

Additional References at PubMed

PMID:12477932

Genomics

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	copy number loss	See cases [RCV000136674]	Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3	copy number gain	See cases [RCV000052507]	Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	copy number gain	See cases [RCV000052514]	Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	copy number loss	See cases [RCV000137808]	Chr18:66190016..80254946 [GRCh38] Chr18:63857253..78012829 [GRCh37] Chr18:62008233..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic\|likely pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	copy number loss	See cases [RCV000135413]	Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1	copy number loss	See cases [RCV000135539]	Chr18:72426712..80252149 [GRCh38] Chr18:70093947..78010032 [GRCh37] Chr18:68244927..76111023 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	copy number loss	See cases [RCV000135567]	Chr18:61827111..80252149 [GRCh38] Chr18:59494344..78010032 [GRCh37] Chr18:57645324..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic\|uncertain significance
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	copy number loss	See cases [RCV000135616]	Chr18:61576009..80252149 [GRCh38] Chr18:59243242..78010032 [GRCh37] Chr18:57394222..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	copy number gain	See cases [RCV000142227]	Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	copy number gain	See cases [RCV000142244]	Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	copy number loss	See cases [RCV000138248]	Chr18:69650802..80254946 [GRCh38] Chr18:67318038..78012829 [GRCh37] Chr18:65469018..76113817 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	copy number gain	See cases [RCV000142689]	Chr18:67686362..80252149 [GRCh38] Chr18:65353599..78010032 [GRCh37] Chr18:63504579..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic\|likely pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	copy number loss	See cases [RCV000138638]	Chr18:66649227..80254936 [GRCh38] Chr18:64316464..78012819 [GRCh37] Chr18:62467444..76113807 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	copy number gain	See cases [RCV000138656]	Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23	pathogenic\|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	copy number gain	See cases [RCV000143218]	Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	copy number loss	See cases [RCV000143557]	Chr18:68857904..80256240 [GRCh38] Chr18:66525141..78014123 [GRCh37] Chr18:64676121..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1	copy number loss	See cases [RCV000136555]	Chr18:67772576..80252149 [GRCh38] Chr18:65439813..78010032 [GRCh37] Chr18:63590793..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	copy number loss	See cases [RCV000133824]	Chr18:69200589..80252149 [GRCh38] Chr18:66867826..78010032 [GRCh37] Chr18:65018806..76111023 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	copy number loss	See cases [RCV000051032]	Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	copy number gain	See cases [RCV000137342]	Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000148072]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q23(chr18:75875505-80252090)x1	copy number loss	See cases [RCV000141361]	Chr18:75875505..80252090 [GRCh38] Chr18:73587460..78009973 [GRCh37] Chr18:71716448..76110964 [NCBI36] Chr18:18q23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	copy number loss	See cases [RCV000142176]	Chr18:66456349..80256240 [GRCh38] Chr18:64123586..78014123 [GRCh37] Chr18:62274566..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	copy number loss	See cases [RCV000053875]	Chr18:62999696..80209986 [GRCh38] Chr18:60666929..77967869 [GRCh37] Chr18:58817909..76068860 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	copy number loss	See cases [RCV000053905]	Chr18:69288245..80252149 [GRCh38] Chr18:66955481..78010032 [GRCh37] Chr18:65106461..76111023 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	copy number gain	See cases [RCV000052572]	Chr18:63195579..80234429 [GRCh38] Chr18:60862812..77992312 [GRCh37] Chr18:59013792..76093303 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q23(chr18:75946906-80252149)x1	copy number loss	See cases [RCV000142371]	Chr18:75946906..80252149 [GRCh38] Chr18:73658861..78010032 [GRCh37] Chr18:71787849..76111023 [NCBI36] Chr18:18q23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	copy number loss	See cases [RCV000135818]	Chr18:71067804..80252149 [GRCh38] Chr18:68735040..78010032 [GRCh37] Chr18:66886020..76111023 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	copy number loss	See cases [RCV000136122]	Chr18:68417596..80252149 [GRCh38] Chr18:66084833..78010032 [GRCh37] Chr18:64235813..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	copy number loss	See cases [RCV000053876]	Chr18:63988650..80252149 [GRCh38] Chr18:61655884..78010032 [GRCh37] Chr18:59806864..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	copy number loss	See cases [RCV000053906]	Chr18:74207209..79351148 [GRCh38] Chr18:71874444..77111148 [GRCh37] Chr18:70025424..75212136 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q23(chr18:75843868-80209986)x1	copy number loss	See cases [RCV000053907]	Chr18:75843868..80209986 [GRCh38] Chr18:73555823..77967869 [GRCh37] Chr18:71684811..76068860 [NCBI36] Chr18:18q23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	copy number loss	See cases [RCV000139134]	Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	copy number loss	See cases [RCV000139464]	Chr18:63756916..80254946 [GRCh38] Chr18:61424150..78012829 [GRCh37] Chr18:59575130..76113817 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	copy number gain	See cases [RCV000052549]	Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	copy number loss	See cases [RCV000137375]	Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	copy number loss	See cases [RCV000137379]	Chr18:68563422..80254946 [GRCh38] Chr18:66230659..78012829 [GRCh37] Chr18:64381639..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	copy number loss	See cases [RCV000137431]	Chr18:68830234..80254946 [GRCh38] Chr18:66497471..78012829 [GRCh37] Chr18:64648451..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	copy number loss	See cases [RCV000141429]	Chr18:61613338..80252090 [GRCh38] Chr18:59280571..78009973 [GRCh37] Chr18:57431551..76110964 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	copy number gain	See cases [RCV000136890]	Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	copy number gain	See cases [RCV000052501]	Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	copy number gain	See cases [RCV000138034]	Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q23(chr18:75424051-80224243)x1	copy number loss	See cases [RCV000136774]	Chr18:75424051..80224243 [GRCh38] Chr18:73136006..77982126 [GRCh37] Chr18:71264994..76083117 [NCBI36] Chr18:18q23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	copy number loss	See cases [RCV000136911]	Chr18:65693588..80252149 [GRCh38] Chr18:63360824..78010032 [GRCh37] Chr18:61511804..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	copy number loss	See cases [RCV000138491]	Chr18:72043906..80254936 [GRCh38] Chr18:69711141..78012819 [GRCh37] Chr18:67862121..76113807 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	copy number loss	See cases [RCV000138707]	Chr18:64747728..80254946 [GRCh38] Chr18:62414964..78012829 [GRCh37] Chr18:60565944..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3	copy number gain	See cases [RCV000138718]	Chr18:73332839..80254946 [GRCh38] Chr18:71000074..78012829 [GRCh37] Chr18:69151054..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	copy number loss	See cases [RCV000139669]	Chr18:59996934..80254946 [GRCh38] Chr18:57664166..78012829 [GRCh37] Chr18:55815146..76113817 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	copy number loss	See cases [RCV000140899]	Chr18:68340002..80256240 [GRCh38] Chr18:66007239..78014123 [GRCh37] Chr18:64158219..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	copy number loss	See cases [RCV000140925]	Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	copy number loss	See cases [RCV000135838]	Chr18:63306200..80252149 [GRCh38] Chr18:60973433..78010032 [GRCh37] Chr18:59124413..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q23(chr18:75988877-80252149)x1	copy number loss	See cases [RCV000136899]	Chr18:75988877..80252149 [GRCh38] Chr18:73700832..78010032 [GRCh37] Chr18:71829820..76111023 [NCBI36] Chr18:18q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	copy number gain	See cases [RCV000052543]	Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3	copy number gain	See cases [RCV000052573]	Chr18:64747528..80252290 [GRCh38] Chr18:62414764..78010173 [GRCh37] Chr18:60565744..76111164 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	copy number loss	See cases [RCV000137598]	Chr18:65658824..80254946 [GRCh38] Chr18:63326060..78012829 [GRCh37] Chr18:61477040..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1	copy number loss	See cases [RCV000138719]	Chr18:73332839..80254946 [GRCh38] Chr18:71000074..78012829 [GRCh37] Chr18:69151054..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	copy number loss	See cases [RCV000053873]	Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	copy number gain	See cases [RCV000139397]	Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3	copy number gain	See cases [RCV000139457]	Chr18:71872883..80254946 [GRCh38] Chr18:69540119..78012829 [GRCh37] Chr18:67691099..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	copy number gain	See cases [RCV000139496]	Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	copy number loss	See cases [RCV000143196]	Chr18:72639340..80254946 [GRCh38] Chr18:70306575..78012829 [GRCh37] Chr18:68457555..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1	copy number loss	See cases [RCV000050985]	Chr18:64950938..80252149 [GRCh38] Chr18:62618174..78010032 [GRCh37] Chr18:60769154..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	copy number gain	See cases [RCV000050989]	Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000051048]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	copy number loss	See cases [RCV000133689]	Chr18:59567681..80252149 [GRCh38] Chr18:57234913..78010032 [GRCh37] Chr18:55385893..76111023 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18q23(chr18:75712014-76239472)x3	copy number gain	See cases [RCV000141673]	Chr18:75712014..76239472 [GRCh38] Chr18:73423969..73951427 [GRCh37] Chr18:71552957..72080415 [NCBI36] Chr18:18q23	uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	copy number gain	See cases [RCV000134110]	Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV002280357]	Chr18:61490305..80247612 [GRCh38] Chr18:18q21.33-23	pathogenic
Single allele	deletion	Pulmonary valve stenosis [RCV002247713]	Chr18:69541066..80373285 [GRCh38] Chr18:18q22.2-23	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	306
Count of miRNA genes:	262
Interacting mature miRNAs:	283
Transcripts:	ENST00000578560, ENST00000584677
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

343

Below cutoff

339

357

190

114

656

313

1521

366

164

116

504

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NR_040034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC011095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC043002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000578560

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	76,123,425 - 76,124,145 (+)	Ensembl

RefSeq Acc Id:

ENST00000584677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	76,122,998 - 76,145,255 (+)	Ensembl

RefSeq Acc Id:

ENST00000653783

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	76,122,968 - 76,131,449 (+)	Ensembl

RefSeq Acc Id:

ENST00000664600

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	76,123,000 - 76,145,259 (+)	Ensembl

RefSeq Acc Id:

NR_040034

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	76,122,998 - 76,145,255 (+)	NCBI
T2T-CHM13v2.0	18	76,352,035 - 76,374,299 (+)	NCBI

Sequence:

show sequence

TTGGAAGAACAGAATTCAACTGATACAACACTGGAGGGGTGAAAACAAGACAGAGAGAGAGAGA
GAGAGAGAGAGAGAGATGAGGGGCCCGCACATGCCCTGCTCATCTCAAAACTTCTCGAGAAGCA
AATCTAACTTGCAGGAACTTTGAGAAAGGCAGGAGAAGCAAAAAAGCAAAATGAGATTGTTTTC
ATAACTTAAAGAGGCTGAAAATGATGAAACTGGGCTGAGATGTGTTACAGGAGCCTACACAGCT
AGAAGGATAGATTCGAGGTCATGCTTTGAGCAAAAGCCATTAAAATACATAAATAACATTGTAT
CACACTTTTGCCTCTCAAGTTGAGACTGCCTCTAAATTGACTAGCGTTACAAATATCCTAACAG
AAAACTATCCCTAAAACCTAGAAAGCCATATTATGCTTTGGCAATCATCTGACCATGTACAACA
AATGTAATGAAAACGGTAAACCTGAACCAAGGCAAACCCAACAGTTTAATTTAAAAACTTGAAG
ATACTAAGTATTCCCTTCAACTGGACATTCAGAAACTTCACGTGGCTACATTGTATTTCCCCCC
ACGAGTTGCTTCAGGGTTGTGAAATTCACTGGACTGTGGAGGGAGCCTTAAACCTTTGTGGGTG
ATTGACGTCTAAAGTACCTGAGCTTTTCTGGTTCTGCTGACCCTCAGTCTCCTGGACCCTAGAA
GAAGAATCAGACCCATCCTTCAGTCTCATCTCTAGAAGCCCAGAATAAAATGAAAAAGAGATGG
GTTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTTGTGAGCTCAAGAAATCCACCTGCCTTAGC
CTCCCAAAGTGCTGGGATTACAGGATGAGCCACTGAGCCCAGCTGACTCCAAGCTTTTCTAATG
AGGTTTCTGGGCCACAGAGTGGAGACAGTCCCTATCCTCAAAGGATGCTACAGTGCATTGTCAA
AGACCAATGCGTCAAAATACTTATGGAAGAAGGTGCCCAAAAGTTCGAAGACAGTTATCTACAC
GGGAGGTGTAAGAAAATCACCTTGGAATACCCATCTCGGAAGAACAGGTGTGAATGCCCTTGAA
TCACTTGGAGAGCTTCTCTTCGATGTTAAATTATTGTAGTAACACCAAGCTCACCACCCAGAAT
GATGCAGTCAGCCTCCCCTGGAAGGAATGAAGGTCGTAGTCTCCTCTCCATAGATGTGTCTCAT
TTTCTATTTAAAAAAAAAAATGTGAATTCAGGCACTGCGTTTGAAAAGTTTGGCAGCAAAACAA
ATGTCCAGTCCATGTCCTGGGTCCTAGGGGAGGGCAAAAAATGGCCTCCTGGCCCATGGTGTGG
CACACACATGCCCTCCTCTCCTGGCTGCCTTGTGCCCAGGCCCAGCCAGAGGCCTGAAATGTGG
CCATGTATGGCAACACGGACCGTGAAGCCCGGAGATCTGCAGCATCAAGCCCCATGCATGAGCG
AAGAGAGCACTGACAGCAGAGGATAGTCCTTCCTCTGAGAAACACGGTTCTTACAGGGTTGGGG
ACAAGAGGCATTCTGCAGCTGGGATCAGCCTCAGCTTGGCAGGAGAGGATCAAGCACCCTAGGG
GACTCAGTGTGGCAGGAAGAACTCAGAGCTCCATCCTGTGGCTGCTCAGGGGCTGAAGCAGAGG
CATTGCCTTTGGACTGTCCAATGCCCTGAGGATTTTGGATACGGTGAGTCTTTCTGCTAAAGAG
GCATGTGAGGTCCTTGGGCAATTGTTTAAAATAAGAACAGGTGACCATATTTGCACCCCAATAT
GAGGAAGAGTTTACAAAGGCTTCCATTATTTCCACAAAACTACAGAAACAGGCCTCGTGATTCA
GGAGACTGAAGGGACCTGGTGGACAAGAATAAGAGCCAAGTGAATCAAAGGTTTCTTTAAGGGA
ACAAACATCAGGACAGAATTTCATGAAGTGGTAACACAACTAGAAAGGAGCACAGAAAAACCAG
TGCATCCCGCTTTTGTATAATGAAGACCCTGTAAGGGGTAACAAGACTCAGTCAAGGTCAAGTG
AAGCAGATGGGTACAAACGAGCGCAATGCAAGCAAATGAAAGTGATGCCGTGACCTGACTGCCG
TGGTTAGAGGACTTCTTATGCTCAAGCACAAAGAACAGACCGTAAGGAGCAGCTGTGATCCAGG
GAACCGGATAGGAAGATGTTGCCTGGGCCAGAATGACCCTACGAACAGAAAAACTGAGATCTAC
AGAAGTTTATGGAAAAGTACCCATGATCACACTGCTGATATGTGGCAAACCTGAGCTATAGATA
CCAGGCTTTACAGAAGCAGAATCAGGTTGTGGTTGCAGAAAAAATAAGAACAGCGAAAGACGCG
TGGGGCATCACATCTCCATCTTGCAGGAACTGGCAGCGATGGTCCAGGCCAACGCCTCTCGAGG
TGGCCTCCTCCTCCCATGTGAGGGAAGGACTCACCAGGGGCTTCCCTGCTGGTAGGGCTCAGAG
ACGTTACTGTTATTTAACTCCAAACCCATCACCGGCGCCTGAGATGCAGGCTTGTGTGCGGGGC
AGATGGCCAGCTGTCAGGGAGGACGTGAGCACTTCACTTTCAAGGACCGGTTCTGACCCTGGAG
CACGCAGGGTGCGGCCTGGCGCTGAGTCCCGTGTTACTCACCTCAACGTGTTTTAACGCTGTTT
CCTCCTTCCCATTTGATAACCCACCTCTTCGACAAACGACCTTCAATATTTGAGTGGTAACAGA
AACGGAGCCACTGTGGCAATAAATTGCTCATAAGCTTGGACAAAAAAAAAAAAAAAA

hide sequence

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	AC011095.1	COSMIC
Ensembl Genes	ENSG00000263547	Ensembl, ENTREZGENE
Ensembl Transcript	ENST00000584677	ENTREZGENE
GTEx	ENSG00000263547	GTEx
Human Proteome Map	AC011095.1	Human Proteome Map
NCBI Gene	LOC339298	ENTREZGENE
RNAcentral	URS000075EBA9	RNACentral

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-06-25	AC011095.1	novel transcript	LOC339298	uncharacterized LOC339298	Symbol and/or name change	19259462	PROVISIONAL
2020-06-18	LOC339298	uncharacterized LOC339298	AC011095.1	novel transcript	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 Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar