LINC01238 (long intergenic non-protein coding RNA 1238)

Gene: LINC01238 (long intergenic non-protein coding RNA 1238) Homo sapiens

Analyze

Symbol:

LINC01238

Name:

long intergenic non-protein coding RNA 1238

RGD ID:

11568944

HGNC Page

HGNC:49795

Description:

ASSOCIATED WITH chromosome 2q37 deletion syndrome; INTERACTS WITH aflatoxin B1; Aflatoxin B2 alpha; aristolochic acid A

Type:

ncrna (Ensembl: lncRNA)

RefSeq Status:

VALIDATED

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	2	241,970,683 - 241,977,276 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	241,970,683 - 241,977,276 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p14 Ensembl	2	242,087,351 - 242,088,457 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	242,912,834 - 242,919,427 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	2	q37.3	NCBI
HuRef	2	234,661,789 - 234,665,555 (+)	NCBI		HuRef
T2T-CHM13v2.0	2	242,478,739 - 242,485,332 (+)	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 2q37 deletion syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

aristolochic acid A (EXP)

benzo[e]pyrene (EXP)

methapyrilene (EXP)

methylisothiazolinone (EXP)

triclosan (EXP)

References

Additional References at PubMed

PMID:14702039

Genomics

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q37.3(chr2:241770998-241996090)x1	copy number loss	See cases [RCV000133758]	Chr2:241770998..241996090 [GRCh38] Chr2:242710413..242938241 [GRCh37] Chr2:242359086..242586914 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914437-242005889)x0	copy number loss	See cases [RCV000134002]	Chr2:241914437..242005889 [GRCh38] Chr2:242856588..242948040 [GRCh37] Chr2:242505261..242596713 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241947675-242005839)x1	copy number loss	See cases [RCV000134107]	Chr2:241947675..242005839 [GRCh38] Chr2:242889826..242947990 [GRCh37] Chr2:242538499..242596663 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241947674-242005889)x1	copy number loss	See cases [RCV000133967]	Chr2:241947674..242005889 [GRCh38] Chr2:242889825..242948040 [GRCh37] Chr2:242538498..242596713 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914448-242042673)x3	copy number gain	See cases [RCV000134812]	Chr2:241914448..242042673 [GRCh38] Chr2:242856599..242984824 [GRCh37] Chr2:242505272..242633497 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914448-242016199)x3	copy number gain	See cases [RCV000134862]	Chr2:241914448..242016199 [GRCh38] Chr2:242856599..242958350 [GRCh37] Chr2:242505272..242607023 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914448-242016199)x1	copy number loss	See cases [RCV000134863]	Chr2:241914448..242016199 [GRCh38] Chr2:242856599..242958350 [GRCh37] Chr2:242505272..242607023 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914448-242005839)x1	copy number loss	See cases [RCV000134867]	Chr2:241914448..242005839 [GRCh38] Chr2:242856599..242947990 [GRCh37] Chr2:242505272..242596663 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241937914-242011489)x3	copy number gain	See cases [RCV000134870]	Chr2:241937914..242011489 [GRCh38] Chr2:242880065..242953640 [GRCh37] Chr2:242528738..242602313 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241923874-242016199)x3	copy number gain	See cases [RCV000135990]	Chr2:241923874..242016199 [GRCh38] Chr2:242866025..242958350 [GRCh37] Chr2:242514698..242607023 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241856400-242027723)x1	copy number loss	See cases [RCV000139408]	Chr2:241856400..242027723 [GRCh38] Chr2:242798552..242969874 [GRCh37] Chr2:242447225..242618547 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241944222-242016199)x3	copy number gain	See cases [RCV000142501]	Chr2:241944222..242016199 [GRCh38] Chr2:242886373..242958350 [GRCh37] Chr2:242535046..242607023 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	copy number loss	See cases [RCV000135545]	Chr2:240507151..242065208 [GRCh38] Chr2:241446568..243007359 [GRCh37] Chr2:241095241..242656032 [NCBI36] Chr2:2q37.3	likely pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	copy number loss	See cases [RCV000135570]	Chr2:236966763..242065208 [GRCh38] Chr2:237875406..243007359 [GRCh37] Chr2:237540145..242656032 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	copy number loss	See cases [RCV000135842]	Chr2:240171137..242065208 [GRCh38] Chr2:241110554..243007359 [GRCh37] Chr2:240759227..242656032 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	copy number loss	See cases [RCV000135864]	Chr2:237034476..242065208 [GRCh38] Chr2:237943119..243007359 [GRCh37] Chr2:237607858..242656032 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	copy number gain	See cases [RCV000135934]	Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241914448-242126251)x1	copy number loss	See cases [RCV000142481]	Chr2:241914448..242126251 [GRCh38] Chr2:242856599..243059659 [GRCh37] Chr2:242505272..242717075 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241930912-242086273)x1	copy number loss	See cases [RCV000136332]	Chr2:241930912..242086273 [GRCh38] Chr2:242873063..243028424 [GRCh37] Chr2:242521736..242677097 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241901492-242086273)x1	copy number loss	See cases [RCV000136283]	Chr2:241901492..242086273 [GRCh38] Chr2:242843643..243028424 [GRCh37] Chr2:242492316..242677097 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241910444-242110184)x1	copy number loss	See cases [RCV000136441]	Chr2:241910444..242110184 [GRCh38] Chr2:242852595..243052335 [GRCh37] Chr2:242501268..242701008 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914466-242086273)x1	copy number loss	See cases [RCV000136464]	Chr2:241914466..242086273 [GRCh38] Chr2:242856617..243028424 [GRCh37] Chr2:242505290..242677097 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	copy number gain	See cases [RCV000143216]	Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	copy number loss	See cases [RCV000052641]	Chr2:233420162..242086301 [GRCh38] Chr2:233995840..243028452 [GRCh37] Chr2:233704084..242677125 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	copy number loss	See cases [RCV000136566]	Chr2:237232204..242065208 [GRCh38] Chr2:238140847..243007359 [GRCh37] Chr2:237805586..242656032 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	copy number loss	See cases [RCV000136968]	Chr2:235028429..242066108 [GRCh38] Chr2:235937073..243008259 [GRCh37] Chr2:235601812..242656932 [NCBI36] Chr2:2q37.2-37.3	pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	copy number loss	See cases [RCV000137069]	Chr2:234835780..242065208 [GRCh38] Chr2:235744424..243007359 [GRCh37] Chr2:235409163..242656032 [NCBI36] Chr2:2q37.2-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241914437-242066108)x1	copy number loss	See cases [RCV000137244]	Chr2:241914437..242066108 [GRCh38] Chr2:242856588..243008259 [GRCh37] Chr2:242505261..242656932 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]\|See cases [RCV000052639]	Chr2:231375505..242065208 [GRCh38] Chr2:232240216..243007359 [GRCh37] Chr2:231948460..242656032 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1	copy number loss	See cases [RCV000052640]	Chr2:232857728..242065349 [GRCh38] Chr2:233722438..243007500 [GRCh37] Chr2:233430682..242656173 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	copy number loss	See cases [RCV000052642]	Chr2:233453611..242099155 [GRCh38] Chr2:234362257..243041306 [GRCh37] Chr2:234026996..242689979 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	copy number loss	See cases [RCV000052669]	Chr2:234172536..242086301 [GRCh38] Chr2:235081180..243028452 [GRCh37] Chr2:234745919..242677125 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	copy number loss	See cases [RCV000052670]	Chr2:234668159..242126245 [GRCh38] Chr2:235576803..243059659 [GRCh37] Chr2:235241542..242717069 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]\|See cases [RCV000052671]	Chr2:234906462..242065208 [GRCh38] Chr2:235815106..243007359 [GRCh37] Chr2:235479845..242656032 [NCBI36] Chr2:2q37.2-37.3	pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	copy number loss	See cases [RCV000052672]	Chr2:235268768..242065208 [GRCh38] Chr2:236177412..243007359 [GRCh37] Chr2:235842151..242656032 [NCBI36] Chr2:2q37.2-37.3	pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	copy number loss	See cases [RCV000052673]	Chr2:235741079..242032456 [GRCh38] Chr2:236649723..242974607 [GRCh37] Chr2:236314462..242623280 [NCBI36] Chr2:2q37.2-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1	copy number loss	See cases [RCV000052674]	Chr2:236775572..242065349 [GRCh38] Chr2:237684215..243007500 [GRCh37] Chr2:237348954..242656173 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	copy number loss	See cases [RCV000052675]	Chr2:237526184..241996090 [GRCh38] Chr2:238434827..242938241 [GRCh37] Chr2:238099566..242586914 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]\|See cases [RCV000052700]	Chr2:237643996..242065208 [GRCh38] Chr2:238552639..243007359 [GRCh37] Chr2:238217378..242656032 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]\|See cases [RCV000052701]	Chr2:238939181..242065208 [GRCh38] Chr2:239860877..243007359 [GRCh37] Chr2:239525814..242656032 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	copy number loss	See cases [RCV000052702]	Chr2:240067206..242086301 [GRCh38] Chr2:241006623..243028452 [GRCh37] Chr2:240655296..242677125 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	copy number loss	See cases [RCV000052703]	Chr2:240444819..242086301 [GRCh38] Chr2:241384236..243028452 [GRCh37] Chr2:241032909..242677125 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1	copy number loss	See cases [RCV000052704]	Chr2:240506951..242065349 [GRCh38] Chr2:241446368..243007500 [GRCh37] Chr2:241095041..242656173 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	copy number loss	See cases [RCV000148260]	Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3	pathogenic
Single allele	deletion	Gestational diabetes mellitus uncontrolled [RCV000161256]\|Normal pregnancy [RCV000161255]	Chr2:241931649..242106609 [GRCh38] Chr2:242873800..243048760 [GRCh37] Chr2:2q37.3	not provided
NR_110592.1(LINC01238):n.972-495_131503del	deletion	Large for gestational age [RCV000161257]\|Normal pregnancy [RCV000161259]\|Preeclampsia [RCV000161258]	Chr2:241975583..242106609 [GRCh38] Chr2:242917734..243048760 [GRCh37] Chr2:2q37.3	not provided
GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]\|See cases [RCV000052705]	Chr2:241179464..242065349 [GRCh38] Chr2:242118879..243007500 [GRCh37] Chr2:241767552..242656173 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	copy number loss	See cases [RCV000052706]	Chr2:241249295..242086301 [GRCh38] Chr2:242188710..243028452 [GRCh37] Chr2:241837383..242677125 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]\|See cases [RCV000052707]	Chr2:241179664..242065208 [GRCh38] Chr2:242119079..243007359 [GRCh37] Chr2:241767752..242656032 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]\|See cases [RCV000052972]	Chr2:223992431..242126245 [GRCh38] Chr2:224857148..243059659 [GRCh37] Chr2:224565392..242717069 [NCBI36] Chr2:2q36.1-37.3	pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	copy number gain	See cases [RCV000052973]	Chr2:227803148..242086301 [GRCh38] Chr2:228667864..243028452 [GRCh37] Chr2:228376108..242677125 [NCBI36] Chr2:2q36.3-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	copy number loss	See cases [RCV000138565]	Chr2:240187901..242126245 [GRCh38] Chr2:241127318..243059659 [GRCh37] Chr2:240775991..242717069 [NCBI36] Chr2:2q37.3	likely pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	copy number loss	See cases [RCV000139527]	Chr2:236775762..242126251 [GRCh38] Chr2:237684405..243059659 [GRCh37] Chr2:237349144..242717075 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241914448-242126243)x1	copy number loss	See cases [RCV000139548]	Chr2:241914448..242126243 [GRCh38] Chr2:242856599..243059659 [GRCh37] Chr2:242505272..242717067 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	copy number loss	See cases [RCV000050304]	Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	copy number loss	See cases [RCV000140648]	Chr2:240228628..242126245 [GRCh38] Chr2:241168045..243059659 [GRCh37] Chr2:240816718..242717069 [NCBI36] Chr2:2q37.3	uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	copy number gain	See cases [RCV000052958]	Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	copy number gain	See cases [RCV000052976]	Chr2:235268768..242126245 [GRCh38] Chr2:236177412..243059659 [GRCh37] Chr2:235842151..242717069 [NCBI36] Chr2:2q37.2-37.3	pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	copy number gain	See cases [RCV000052977]	Chr2:235563664..242086301 [GRCh38] Chr2:236472308..243028452 [GRCh37] Chr2:236137047..242677125 [NCBI36] Chr2:2q37.2-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3	copy number gain	See cases [RCV000052980]	Chr2:240910571..242126392 [GRCh38] Chr2:241849988..243059659 [GRCh37] Chr2:241498661..242717216 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	copy number loss	See cases [RCV000138117]	Chr2:238833519..242126245 [GRCh38] Chr2:239742160..243059659 [GRCh37] Chr2:239406907..242717069 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	copy number loss	See cases [RCV000139805]	Chr2:236413722..242126251 [GRCh38] Chr2:237322365..243059659 [GRCh37] Chr2:236987104..242717075 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	copy number loss	See cases [RCV000139808]	Chr2:237902870..242126251 [GRCh38] Chr2:238811512..243059659 [GRCh37] Chr2:238476251..242717075 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1	copy number loss	See cases [RCV000050955]	Chr2:241582713..242065208 [GRCh38] Chr2:242522128..243007359 [GRCh37] Chr2:242170801..242656032 [NCBI36] Chr2:2q37.3	uncertain significance
GRCh38/hg38 2q37.3(chr2:241914437-242065208)x3	copy number gain	See cases [RCV000133891]	Chr2:241914437..242065208 [GRCh38] Chr2:242856588..243007359 [GRCh37] Chr2:242505261..242656032 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914437-242065208)x1	copy number loss	See cases [RCV000133892]	Chr2:241914437..242065208 [GRCh38] Chr2:242856588..243007359 [GRCh37] Chr2:242505261..242656032 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914437-242126245)x1	copy number loss	See cases [RCV000133942]	Chr2:241914437..242126245 [GRCh38] Chr2:242856588..243059659 [GRCh37] Chr2:242505261..242717069 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241914448-242065306)x1	copy number loss	See cases [RCV000134044]	Chr2:241914448..242065306 [GRCh38] Chr2:242856599..243007457 [GRCh37] Chr2:242505272..242656130 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	copy number loss	See cases [RCV000136686]	Chr2:240067206..242126245 [GRCh38] Chr2:241006623..243059659 [GRCh37] Chr2:240655296..242717069 [NCBI36] Chr2:2q37.3	pathogenic\|uncertain significance
GRCh38/hg38 2q37.3(chr2:241975583-242092368)x0	copy number loss	Premature ovarian failure [RCV000225148]	Chr2:241975583..242092368 [GRCh38] Chr2:242917734..243034519 [GRCh37] Chr2:2q37.3	benign
Single allele	deletion	Chromosome 2q37 deletion syndrome [RCV002247720]	Chr2:236710422..242106504 [GRCh38] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1	copy number loss	See cases [RCV000141625]	Chr2:241565848..242110155 [GRCh38] Chr2:242505263..243052306 [GRCh37] Chr2:242153936..242700979 [NCBI36] Chr2:2q37.3	uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	copy number loss	See cases [RCV000141077]	Chr2:240671231..242092126 [GRCh38] Chr2:241610648..243034277 [GRCh37] Chr2:241259321..242682950 [NCBI36] Chr2:2q37.3	likely pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	copy number loss	See cases [RCV000051120]	Chr2:236555233..242126245 [GRCh38] Chr2:237463876..243059659 [GRCh37] Chr2:237128615..242717069 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	copy number loss	See cases [RCV000051133]	Chr2:237643996..242126245 [GRCh38] Chr2:238552639..243059659 [GRCh37] Chr2:238217378..242717069 [NCBI36] Chr2:2q37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	copy number loss	See cases [RCV000051163]	Chr2:234345842..242126245 [GRCh38] Chr2:235254486..243059659 [GRCh37] Chr2:234919225..242717069 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3	copy number gain	See cases [RCV000133843]	Chr2:241522479..242126245 [GRCh38] Chr2:242461894..243059659 [GRCh37] Chr2:242110567..242717069 [NCBI36] Chr2:2q37.3	uncertain significance
GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1	copy number loss	See cases [RCV000134170]	Chr2:241481406..242126245 [GRCh38] Chr2:242420821..243059659 [GRCh37] Chr2:242069494..242717069 [NCBI36] Chr2:2q37.3	uncertain significance
GRCh38/hg38 2q37.3(chr2:241904659-242065306)x1	copy number loss	See cases [RCV000134723]	Chr2:241904659..242065306 [GRCh38] Chr2:242846810..243007457 [GRCh37] Chr2:242495483..242656130 [NCBI36] Chr2:2q37.3	benign
GRCh38/hg38 2q37.3(chr2:241910415-242065208)x1	copy number loss	See cases [RCV000141509]	Chr2:241910415..242065208 [GRCh38] Chr2:242852566..243007359 [GRCh37] Chr2:242501239..242656032 [NCBI36] Chr2:2q37.3	benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	527
Count of miRNA genes:	408
Interacting mature miRNAs:	445
Transcripts:	ENST00000426962, ENST00000429456, ENST00000451070, ENST00000567549
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

165

524

174

111

259

374

417

Low

3848

2441

2335

808

2189

530

5361

2272

6271

388

2133

2123

287

1449

3381

Below cutoff

760

3198

510

367

1194

338

3053

1912

855

346

322

562

868

2035

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NR_110592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC093642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000416204

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	241,971,000 - 241,971,899 (+)	Ensembl

RefSeq Acc Id:

ENST00000426962

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	241,971,278 - 241,971,924 (+)	Ensembl

RefSeq Acc Id:

ENST00000429456

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	241,970,683 - 241,977,276 (+)	Ensembl

RefSeq Acc Id:

ENST00000451070

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	241,972,038 - 241,974,529 (+)	Ensembl

RefSeq Acc Id:

ENST00000567549

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	242,087,351 - 242,088,457 (-)	Ensembl

RefSeq Acc Id:

NR_110592

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	241,970,683 - 241,977,276 (+)	NCBI
T2T-CHM13v2.0	2	242,478,739 - 242,485,332 (+)	NCBI

Sequence:

show sequence

TAGAAAATAACCTATATGTGGTGGTCCATTTTCAGTTCTAAGTGCCTTCATATAGGTTTAAGCA
GGCTATGTGGAAATAGAGAAATAAAGAAGCAGAAATGTACTGAGTCACCACCCTGCCCTCCTTC
CTGCTTTCCCTTTCACCCAGCGGCCACGTGCCTATCAGTAGGAGCCCCCTCAACTACCCTCTCC
TCACCCCACCAAAGAATTTAGTTTAGGCTAGCTTGCAACATAAATAATTATACCCTTTCTTATC
AGCTACGTGCAGCCACCAGGGCCATAGTCAAATGTTTGAAGAGTCCTGAGACAGTTGCAATGCA
TGGTGGGCTGCAATAAAATGCAGCAGAAAGATCCTAAAGAACAGACTTGAAATCTTAATCCAAC
GACCAATAGGTGATGTCCAGGAAGATCGTAACCCCATTTACTCAGTCAATGAGGAACTGGGGGA
GGGACCTGCGCACTAGGGGATAAATTGCTTGTTGAAACTCTGCTGGGGGTGGCTGCATGCCAGC
CAGACACCCAGTCTTGCAAGACTGTCATTGAAAATCTCCGTTTTGCTGTTCTCCGGGTCTCTGC
GTCCAGTCTTTGTGTTTGGACGGACCTGCCGGGCCATCTTTCTGCAAGAAGATAAAGGAAGACC
AGGAGTGCCTGCCGAACTCCTATGGAGGAAGTCTAGGAGAGGAAGGGGTAGGACCAAGGGCACT
GCTGTGGGCTGAAGGGAGGAAGATGGTGTCTGCAAACCAGGAAGCAGCCTTGCCAGACACAGGA
TTGGCCACAACCTTGACCCCAGACTTCCAGCCTCCAGAACTGAAGGACTGAGTTCATTTTCAGC
GTGTCTGGCTTTTCCATTTCTGTGGCCTGGGAAGGAATTTCCCTGCACAGGCTCTCTTGCCTGC
CACCATGTAAGACCTGCCTCTGCTCCTCCTTCACCTTCCGCCATGATTGTGAGGCCACCCCAGC
CATGTGGAACTGTCAAGAGGCTGGGAGGTGCCCTCTGCCTTTCAAGATCAGAGAGTAGCTGATC
CCCCTCCTGCCGTCATTTATGGACTGAATAACCACAGAGAGTGTGAGGCCGGCGGAAACTTGGC
AGTGCCTGTTTGTCATTGTCAGTTTCAAATACTTTTTAATTTTGAATAGTTGTAGATTTTCAGA
AGGGTTATGAAGATTGTGCAGGCAGTTTCTGCAAGCTGCTGCTAATTTCCCTCAGCTTCCACGT
CTTCGCTGCCATGGTCCACCTGCAGCAGCCAAGAAAGCCGCGTTGCATCGCCACGAGCTAAACT
CCAGCCTTCGGATTTCAGAGCTTCCATCCATGTCCTCTCTCTGCTGTGACCCCACCTGGGGTGC
CACGTCGTGTCTGATCCTCCTGTGTCCTCGGCTTCTCTGGTCTGTGACATTTCTGTCTCTCCTT
TGCCATGACCCTGGCAGTGTGGAGGAGACTGTTGGGCACCCTGTGGATGCCCCTCAGTCTGGGT
TCATCTGTCCTTTTCCTCATGGTTAGCCTGAGGTGGTGGGCTTCCGCAAATAATACCAAGGAGG
TGAAATGTTCTTCCCCTCACGGCCTCTCAGGGGCATAGAACATCCTCTTGACTTCACAGGTGGC
GTTAACCCGATCGCTTGTGTGAAAATAACGCATCGGGAGGCACTAGGCTGAGGGCTTCAGTACC
TCAGAAGCAAACCCAGTTCCTGCACACAGAAACCCCATTCAGGGTAAGGGGTCCTGTCCTAGGA
AAGAAAATTCAAGTTTAAACAGAAACTGCCAGCTAACCTCAAAGCAGAGGCCGTGTGACTGCTG
TTTCACTTCAATCCATCCTTTTTCTGTTCTTCCTTCCAAGAACACTGATGAAGGTTTTCCTTGT
GCTCCTTGGTAGAGCCCAAACTGCTGTAGTTCAGTGCTGCCCAGCTCATGGATTCCTGTCTCCT
CAAATAACTCTTTACACTTTCACGTGCCTACGTTTATCTTCTAACACTTGGATCAGGTGGCGTC
CGCCAGGTGTCTTCGCTGTAAAGTCACTGTCTTCCCTTCCACCGCTCCACTCTTTGGGATGAGT
CACGAAGCCTGTGCTACCTTCAGGGGAGGGCTGGGGAAGAGTTAAACTCCATCTCCTGGAGGGG
CTGCTACATATGATCATATGATGTTATTTGGAGTAAGAAAGATTTGCCTCTTCTCCAC

hide sequence

Promoters

RGD ID:

15095551

Promoter ID:

EPDNEWNC_H386

Type:

initiation region

Name:

LINC01238_2

Description:

long intergenic non-protein coding RNA 1238 [Source:HGNCSymbol;Acc:HGNC:49795]

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	241,970,640 - 241,970,700	EPDNEWNC

RGD ID:

15095549

Promoter ID:

EPDNEWNC_H387

Type:

initiation region

Name:

LINC01238_1

Description:

long intergenic non-protein coding RNA 1238 [Source:HGNCSymbol;Acc:HGNC:49795]

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	241,970,964 - 241,971,024	EPDNEWNC

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	LINC01238	COSMIC
Ensembl Genes	ENSG00000237940	Ensembl, ENTREZGENE
	ENSG00000261186	Ensembl
Ensembl Transcript	ENST00000429456	ENTREZGENE
GTEx	ENSG00000237940	GTEx
	ENSG00000261186	GTEx
HGNC ID	HGNC:49795	ENTREZGENE
Human Proteome Map	LINC01238	Human Proteome Map
NCBI Gene	LINC01238	ENTREZGENE
RNAcentral	URS00005478F3	RNACentral

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar