F11-AS1 (F11 antisense RNA 1) - Rat Genome Database

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Gene: F11-AS1 (F11 antisense RNA 1) Homo sapiens
Analyze
Symbol: F11-AS1
Name: F11 antisense RNA 1
RGD ID: 7361252
HGNC Page HGNC:27725
Description: ASSOCIATED WITH Abnormal bleeding; Autism; autistic disorder; INTERACTS WITH aflatoxin B1; bisphenol A; cadmium atom
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: RP11-215A19.1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384186,286,098 - 186,501,058 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4186,286,094 - 186,500,997 (-)EnsemblGRCh38hg38GRCh38
GRCh374187,207,252 - 187,422,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera4184,531,616 - 184,741,660 (-)NCBICelera
Cytogenetic Map4q35.2NCBI
HuRef4182,958,644 - 183,169,606 (-)NCBIHuRef
CHM1_14187,183,690 - 187,398,652 (-)NCBICHM1_1
T2T-CHM13v2.04189,626,081 - 189,847,418 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:20339536   PMID:22703881   PMID:22760553   PMID:28220683   PMID:31168823   PMID:31880390  


Genomics

Variants

.
Variants in F11-AS1
160 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000128.4(F11):c.1628A>G (p.Glu543Gly) single nucleotide variant not provided [RCV001765840] Chr4:186287735 [GRCh38]
Chr4:187208889 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1716+1G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000012665]|Plasma factor XI deficiency [RCV001831565]|not provided [RCV001383739] Chr4:186287824 [GRCh38]
Chr4:187208978 [GRCh37]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012675] Chr4:186288518 [GRCh38]
Chr4:187209672 [GRCh37]
Chr4:4q35.2		 pathogenic|likely pathogenic
NM_000128.4(F11):c.1760G>C (p.Trp587Ser) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012679] Chr4:186288496 [GRCh38]
Chr4:187209650 [GRCh37]
Chr4:4q35.2		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
NM_000128.3(F11):c.1369G>A (p.Asp457Asn) single nucleotide variant Malignant melanoma [RCV000066372] Chr4:186285702 [GRCh38]
Chr4:187206856 [GRCh37]
Chr4:187443850 [NCBI36]
Chr4:4q35.2		 not provided
NM_000128.3(F11):c.1684G>A (p.Gly562Ser) single nucleotide variant Malignant melanoma [RCV000066373] Chr4:186287791 [GRCh38]
Chr4:187208945 [GRCh37]
Chr4:187445939 [NCBI36]
Chr4:4q35.2		 not provided
NR_033900.1(F11-AS1):n.215-67555T>C single nucleotide variant Lung cancer [RCV000094465] Chr4:186358587 [GRCh38]
Chr4:187279741 [GRCh37]
Chr4:4q35.2		 uncertain significance
NR_033900.1(F11-AS1):n.214+16489G>T single nucleotide variant Lung cancer [RCV000094466] Chr4:186484356 [GRCh38]
Chr4:187405510 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*928G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000261962] Chr4:186289542 [GRCh38]
Chr4:187210696 [GRCh37]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4 copy number gain See cases [RCV000138568] Chr4:185790027..187829822 [GRCh38]
Chr4:186711181..188750976 [GRCh37]
Chr4:186948175..188987970 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss See cases [RCV000138668] Chr4:183072743..190095391 [GRCh38]
Chr4:183993896..190828225 [GRCh37]
Chr4:184230890..191250527 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1 copy number loss See cases [RCV000140721] Chr4:185991833..186443602 [GRCh38]
Chr4:186912987..187364756 [GRCh37]
Chr4:187149981..187601750 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1 copy number loss See cases [RCV000139618] Chr4:185698962..189975613 [GRCh38]
Chr4:186620116..190828225 [GRCh37]
Chr4:186857110..191133762 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 copy number gain See cases [RCV000141422] Chr4:184924265..186578389 [GRCh38]
Chr4:185845419..187499543 [GRCh37]
Chr4:186082413..187736537 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:179295511..190036318 [GRCh38]
Chr4:180216665..190957473 [GRCh37]
Chr4:180453659..191194467 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1 copy number loss See cases [RCV000141727] Chr4:185290811..187350114 [GRCh38]
Chr4:186211965..188271268 [GRCh37]
Chr4:186448959..188508262 [NCBI36]
Chr4:4q35.1-35.2		 likely benign
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:182732498..187998523 [GRCh38]
Chr4:183653651..188919677 [GRCh37]
Chr4:183890645..189156671 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3 copy number gain See cases [RCV000143575] Chr4:185601825..187530334 [GRCh38]
Chr4:186522979..188451488 [GRCh37]
Chr4:186759973..188688482 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:176756632..189621964 [GRCh38]
Chr4:177677786..190543118 [GRCh37]
Chr4:177914780..190780112 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q35.2(chr4:186218358-187484068)x3 copy number gain See cases [RCV000050554] Chr4:186218358..187484068 [GRCh38]
Chr4:187139512..188405222 [GRCh37]
Chr4:187376506..188642216 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 copy number loss See cases [RCV000050665] Chr4:183528264..188624331 [GRCh38]
Chr4:184449417..189545485 [GRCh37]
Chr4:184686411..189782479 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169135]|not provided [RCV000059018]|not specified [RCV003230390] Chr4:186287800 [GRCh38]
Chr4:187208954 [GRCh37]
Chr4:4q35.2		 likely pathogenic|uncertain significance|not provided
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) single nucleotide variant Abnormal bleeding [RCV000851708]|Hereditary factor XI deficiency disease [RCV000169241]|Plasma factor XI deficiency [RCV001835701]|not provided [RCV001247722] Chr4:186286490 [GRCh38]
Chr4:187207644 [GRCh37]
Chr4:4q35.2		 pathogenic|likely pathogenic
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169580] Chr4:186287720 [GRCh38]
Chr4:187208874 [GRCh37]
Chr4:4q35.2		 pathogenic|likely pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss See cases [RCV000051215] Chr4:175483683..189975519 [GRCh38]
Chr4:176404834..190828225 [GRCh37]
Chr4:176641828..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3 copy number gain See cases [RCV000051657] Chr4:185738786..186557156 [GRCh38]
Chr4:186659940..187478310 [GRCh37]
Chr4:186896934..187715304 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:179946068..189548183 [GRCh38]
Chr4:180867221..190469337 [GRCh37]
Chr4:181104215..190706331 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss See cases [RCV000053374] Chr4:177442769..190042639 [GRCh38]
Chr4:178363923..190828225 [GRCh37]
Chr4:178600917..191200788 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 copy number loss See cases [RCV000053378] Chr4:183354112..190042639 [GRCh38]
Chr4:184275265..190828225 [GRCh37]
Chr4:184512259..191200788 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 copy number loss See cases [RCV000053379] Chr4:185074103..189867552 [GRCh38]
Chr4:185995257..190788707 [GRCh37]
Chr4:186232251..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1 copy number loss See cases [RCV000053394] Chr4:185351249..189867552 [GRCh38]
Chr4:186272403..190788707 [GRCh37]
Chr4:186509397..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185498280-186984787)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|See cases [RCV000053395] Chr4:185498280..186984787 [GRCh38]
Chr4:186419434..187905941 [GRCh37]
Chr4:186656428..188142935 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 copy number gain See cases [RCV000133708] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190828225 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 copy number gain See cases [RCV000134158] Chr4:184406972..188915538 [GRCh38]
Chr4:185328126..189836692 [GRCh37]
Chr4:185565120..190073686 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss See cases [RCV000134276] Chr4:182437091..190018185 [GRCh38]
Chr4:183358244..190939340 [GRCh37]
Chr4:183595238..191176334 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain See cases [RCV000135693] Chr4:180451652..190095391 [GRCh38]
Chr4:181372805..190828225 [GRCh37]
Chr4:181609799..191250527 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1 copy number loss See cases [RCV000135893] Chr4:186187749..189800953 [GRCh38]
Chr4:187108903..190722107 [GRCh37]
Chr4:187345897..190959101 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
NM_000128.4(F11):c.1507T>C (p.Ser503Pro) single nucleotide variant not provided [RCV000059010] Chr4:186286441 [GRCh38]
Chr4:187207595 [GRCh37]
Chr4:4q35.2		 not provided
NM_000128.4(F11):c.1517A>G (p.Asp506Gly) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666655]|not provided [RCV000059011] Chr4:186286451 [GRCh38]
Chr4:187207605 [GRCh37]
Chr4:4q35.2		 uncertain significance|not provided
NM_000128.4(F11):c.1531T>C (p.Tyr511His) single nucleotide variant not provided [RCV000059014] Chr4:186286465 [GRCh38]
Chr4:187207619 [GRCh37]
Chr4:4q35.2		 not provided
NM_000128.4(F11):c.1541G>T (p.Cys514Phe) single nucleotide variant not provided [RCV000059015] Chr4:186286475 [GRCh38]
Chr4:187207629 [GRCh37]
Chr4:4q35.2		 not provided
NM_000128.4(F11):c.1578C>G (p.Asp526Glu) single nucleotide variant not provided [RCV000059016] Chr4:186287685 [GRCh38]
Chr4:187208839 [GRCh37]
Chr4:4q35.2		 not provided
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000454166]|not provided [RCV000059019] Chr4:186288460 [GRCh38]
Chr4:187209614 [GRCh37]
Chr4:4q35.2		 likely pathogenic|not provided
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671144]|not provided [RCV000059020] Chr4:186288525 [GRCh38]
Chr4:187209679 [GRCh37]
Chr4:4q35.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000128.4(F11):c.1822T>C (p.Tyr608His) single nucleotide variant Hereditary factor XI deficiency disease [RCV001027677]|not provided [RCV000059021] Chr4:186288558 [GRCh38]
Chr4:187209712 [GRCh37]
Chr4:4q35.2		 pathogenic|not provided
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) single nucleotide variant F11-related condition [RCV003905028]|not provided [RCV000059022] Chr4:186288589 [GRCh38]
Chr4:187209743 [GRCh37]
Chr4:4q35.2		 pathogenic|not provided
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 copy number loss See cases [RCV000136942] Chr4:184239531..189975519 [GRCh38]
Chr4:185160684..190828225 [GRCh37]
Chr4:185397678..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss See cases [RCV000137101] Chr4:177985956..189975519 [GRCh38]
Chr4:178907110..190828225 [GRCh37]
Chr4:179144104..191133668 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss See cases [RCV000137262] Chr4:178549472..190095391 [GRCh38]
Chr4:179470626..190828225 [GRCh37]
Chr4:179707620..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss See cases [RCV000137343] Chr4:178014570..190095391 [GRCh38]
Chr4:178935724..190828225 [GRCh37]
Chr4:179172718..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss See cases [RCV000137345] Chr4:180574962..190095391 [GRCh38]
Chr4:181496115..190828225 [GRCh37]
Chr4:181733109..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
NM_000128.4(F11):c.1560G>T (p.Gly520=) single nucleotide variant not provided [RCV000174448] Chr4:186286494 [GRCh38]
Chr4:187207648 [GRCh37]
Chr4:4q35.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) single nucleotide variant F11-related condition [RCV003409399]|Hereditary factor XI deficiency disease [RCV000763125]|Plasma factor XI deficiency [RCV001273725]|not provided [RCV000349831] Chr4:186286423 [GRCh38]
Chr4:187207577 [GRCh37]
Chr4:4q35.2		 pathogenic|likely pathogenic
NM_000128.4(F11):c.*296G>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000285865]|not provided [RCV001691999] Chr4:186288910 [GRCh38]
Chr4:187210064 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1812G>T (p.Arg604=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000374661]|Plasma factor XI deficiency [RCV001828127]|not provided [RCV001514371]|not specified [RCV000241920] Chr4:186288548 [GRCh38]
Chr4:187209702 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.1839G>A (p.Glu613=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000280113]|Plasma factor XI deficiency [RCV001828128]|not provided [RCV001514372]|not specified [RCV000245099] Chr4:186288575 [GRCh38]
Chr4:187209729 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.1716+12T>C single nucleotide variant not specified [RCV000250151] Chr4:186287835 [GRCh38]
Chr4:187208989 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.*902G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000356777] Chr4:186289516 [GRCh38]
Chr4:187210670 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*265A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000380456]|not provided [RCV001709621] Chr4:186288879 [GRCh38]
Chr4:187210033 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.1707C>T (p.Asp569=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000320132]|Plasma factor XI deficiency [RCV001828344]|not provided [RCV001518082] Chr4:186287814 [GRCh38]
Chr4:187208968 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.*852G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000406299] Chr4:186289466 [GRCh38]
Chr4:187210620 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.*322G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000340844] Chr4:186288936 [GRCh38]
Chr4:187210090 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.*728T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000306985] Chr4:186289342 [GRCh38]
Chr4:187210496 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*584A>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000346736] Chr4:186289198 [GRCh38]
Chr4:187210352 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*885G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000311213] Chr4:186289499 [GRCh38]
Chr4:187210653 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.*479A>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000393896] Chr4:186289093 [GRCh38]
Chr4:187210247 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.*822A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000370993] Chr4:186289436 [GRCh38]
Chr4:187210590 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*1033A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000267527] Chr4:186289647 [GRCh38]
Chr4:187210801 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*576G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000291545] Chr4:186289190 [GRCh38]
Chr4:187210344 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*262A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000316589] Chr4:186288876 [GRCh38]
Chr4:187210030 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*952G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000317239] Chr4:186289566 [GRCh38]
Chr4:187210720 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*974ATT[1] microsatellite Hereditary factor XI deficiency disease [RCV000353382] Chr4:186289588..186289590 [GRCh38]
Chr4:187210742..187210744 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*636A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000393884] Chr4:186289250 [GRCh38]
Chr4:187210404 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1481-34G>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001543710]|not provided [RCV001673164] Chr4:186286381 [GRCh38]
Chr4:187207535 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.1717-48A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001543712]|not provided [RCV001694064] Chr4:186288405 [GRCh38]
Chr4:187209559 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.1560dup (p.Tyr521fs) duplication Hereditary factor XI deficiency disease [RCV000409880] Chr4:186286489..186286490 [GRCh38]
Chr4:187207643..187207644 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1778C>T (p.Thr593Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV000411281]|not provided [RCV001850956] Chr4:186288514 [GRCh38]
Chr4:187209668 [GRCh37]
Chr4:4q35.2		 pathogenic|likely pathogenic
NM_000128.4(F11):c.1789G>T (p.Glu597Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000411308] Chr4:186288525 [GRCh38]
Chr4:187209679 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1676_1682del (p.Ile559fs) deletion Hereditary factor XI deficiency disease [RCV000411882] Chr4:186287783..186287789 [GRCh38]
Chr4:187208937..187208943 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1481-1G>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000412477]|not provided [RCV003718231] Chr4:186286414 [GRCh38]
Chr4:187207568 [GRCh37]
Chr4:4q35.2		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 copy number loss See cases [RCV000133709] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190896674 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1 copy number loss See cases [RCV000137828] Chr4:186129390..190095391 [GRCh38]
Chr4:187050544..190828225 [GRCh37]
Chr4:187287538..191250527 [NCBI36]
Chr4:4q35.1-35.2		 likely benign|uncertain significance
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain See cases [RCV000143010] Chr4:180717850..190095391 [GRCh38]
Chr4:181639003..190828225 [GRCh37]
Chr4:181875997..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic|likely benign
NM_000128.4(F11):c.1741T>C (p.Cys581Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000670634] Chr4:186288477 [GRCh38]
Chr4:187209631 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1724C>A (p.Ser575Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000668701] Chr4:186288460 [GRCh38]
Chr4:187209614 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1481-1G>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000666958] Chr4:186286414 [GRCh38]
Chr4:187207568 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs) duplication Hereditary factor XI deficiency disease [RCV000665098] Chr4:186287726..186287727 [GRCh38]
Chr4:187208880..187208881 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1546G>A (p.Val516Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671819] Chr4:186286480 [GRCh38]
Chr4:187207634 [GRCh37]
Chr4:4q35.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000128.4(F11):c.1718G>A (p.Gly573Glu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000668664] Chr4:186288454 [GRCh38]
Chr4:187209608 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1627G>A (p.Glu543Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666223] Chr4:186287734 [GRCh38]
Chr4:187208888 [GRCh37]
Chr4:4q35.2		 uncertain significance
Single allele duplication Autism [RCV000754289] Chr4:185324779..188495308 [GRCh38]
Chr4:4q35.1-35.2		 likely pathogenic
NM_000128.4(F11):c.1577-92AT[11] microsatellite not provided [RCV001648441] Chr4:186287591..186287592 [GRCh38]
Chr4:187208745..187208746 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1577-92AT[8] microsatellite not provided [RCV001709764] Chr4:186287592..186287593 [GRCh38]
Chr4:187208746..187208747 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.*1039G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001146961] Chr4:186289653 [GRCh38]
Chr4:187210807 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1717-7G>A single nucleotide variant not provided [RCV000942213] Chr4:186288446 [GRCh38]
Chr4:187209600 [GRCh37]
Chr4:4q35.2		 likely benign
Single allele deletion Hereditary factor XI deficiency disease [RCV002280381] Chr4:186194495..190175048 [GRCh38]
Chr4:4q35.1-35.2		 likely pathogenic
NM_000128.4(F11):c.1699G>A (p.Gly567Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851713] Chr4:186287806 [GRCh38]
Chr4:187208960 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1751A>T (p.Asn584Ile) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851718] Chr4:186288487 [GRCh38]
Chr4:187209641 [GRCh37]
Chr4:4q35.2		 uncertain significance
NC_000004.12:g.(?_185684754)_(186709827_?)del deletion not provided [RCV000798147] Chr4:185684754..186709827 [GRCh38]
Chr4:186605908..187630981 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
NM_000128.4(F11):c.*763T>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001151124] Chr4:186289377 [GRCh38]
Chr4:187210531 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*1A>G single nucleotide variant F11-related condition [RCV003898144]|Hereditary factor XI deficiency disease [RCV001146870] Chr4:186288615 [GRCh38]
Chr4:187209769 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.1646A>G (p.Tyr549Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000852049] Chr4:186287753 [GRCh38]
Chr4:187208907 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*445C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001147777] Chr4:186289059 [GRCh38]
Chr4:187210213 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1481-188C>T single nucleotide variant not provided [RCV000938974] Chr4:186286227 [GRCh38]
Chr4:187207381 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1608G>C (p.Lys536Asn) single nucleotide variant Hereditary factor XI deficiency disease [RCV001095694]|not provided [RCV001856291] Chr4:186287715 [GRCh38]
Chr4:187208869 [GRCh37]
Chr4:4q35.2		 pathogenic|likely pathogenic
NM_000128.4(F11):c.*404A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001147776] Chr4:186289018 [GRCh38]
Chr4:187210172 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*448A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001147778] Chr4:186289062 [GRCh38]
Chr4:187210216 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1772G>C (p.Gly591Ala) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851721] Chr4:186288508 [GRCh38]
Chr4:187209662 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1836C>T (p.Val612=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001144922]|not provided [RCV001452484] Chr4:186288572 [GRCh38]
Chr4:187209726 [GRCh37]
Chr4:4q35.2		 likely benign|uncertain significance
NM_000128.4(F11):c.1842C>T (p.Tyr614=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001146868]|not provided [RCV001503743] Chr4:186288578 [GRCh38]
Chr4:187209732 [GRCh37]
Chr4:4q35.2		 likely benign|uncertain significance
NM_000128.4(F11):c.*174C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001146871] Chr4:186288788 [GRCh38]
Chr4:187209942 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*175C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001146872] Chr4:186288789 [GRCh38]
Chr4:187209943 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.*186C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001146873] Chr4:186288800 [GRCh38]
Chr4:187209954 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1481-215C>T single nucleotide variant not provided [RCV001636404] Chr4:186286200 [GRCh38]
Chr4:187207354 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1577-93_1577-92dup duplication not provided [RCV001676884] Chr4:186287587..186287588 [GRCh38]
Chr4:187208741..187208742 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1577-148A>T single nucleotide variant not provided [RCV001621763] Chr4:186287536 [GRCh38]
Chr4:187208690 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1843G>A (p.Val615Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV001146869]|Plasma factor XI deficiency [RCV001275733]|not provided [RCV000913811] Chr4:186288579 [GRCh38]
Chr4:187209733 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1576+51C>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001543711]|not provided [RCV001685473] Chr4:186286561 [GRCh38]
Chr4:187207715 [GRCh37]
Chr4:4q35.2		 benign|likely benign
NM_000128.4(F11):c.1577-92AT[10] microsatellite not provided [RCV001721634] Chr4:186287591..186287592 [GRCh38]
Chr4:187208745..187208746 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1716+250G>A single nucleotide variant not provided [RCV001682206] Chr4:186288073 [GRCh38]
Chr4:187209227 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.*884C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001145017] Chr4:186289498 [GRCh38]
Chr4:187210652 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1777A>G (p.Thr593Ala) single nucleotide variant Hereditary factor XI deficiency disease [RCV001144921]|not provided [RCV003737000] Chr4:186288513 [GRCh38]
Chr4:187209667 [GRCh37]
Chr4:4q35.2		 likely pathogenic|uncertain significance
NM_000128.4(F11):c.1716+248G>A single nucleotide variant not provided [RCV001649821] Chr4:186288071 [GRCh38]
Chr4:187209225 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.*551A>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001151122] Chr4:186289165 [GRCh38]
Chr4:187210319 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*817A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001151125] Chr4:186289431 [GRCh38]
Chr4:187210585 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*609C>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001151123] Chr4:186289223 [GRCh38]
Chr4:187210377 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*346A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001147775] Chr4:186288960 [GRCh38]
Chr4:187210114 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*846T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV001145016] Chr4:186289460 [GRCh38]
Chr4:187210614 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.*933C>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001145018] Chr4:186289547 [GRCh38]
Chr4:187210701 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1579A>G (p.Lys527Glu) single nucleotide variant Plasma factor XI deficiency [RCV001277773] Chr4:186287686 [GRCh38]
Chr4:187208840 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1609A>T (p.Ile537Leu) single nucleotide variant Plasma factor XI deficiency [RCV001277774] Chr4:186287716 [GRCh38]
Chr4:187208870 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1716+168G>A single nucleotide variant not provided [RCV001642165] Chr4:186287991 [GRCh38]
Chr4:187209145 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1625A>G (p.Asn542Ser) single nucleotide variant Plasma factor XI deficiency [RCV001277775] Chr4:186287732 [GRCh38]
Chr4:187208886 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1683C>T (p.Ala561=) single nucleotide variant Hereditary factor XI deficiency disease [RCV002493466]|Plasma factor XI deficiency [RCV001277776]|not provided [RCV002069412] Chr4:186287790 [GRCh38]
Chr4:187208944 [GRCh37]
Chr4:4q35.2		 likely benign|uncertain significance
NM_000128.4(F11):c.1716+10del deletion Plasma factor XI deficiency [RCV001277778] Chr4:186287833 [GRCh38]
Chr4:187208987 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1767G>T (p.Leu589=) single nucleotide variant Plasma factor XI deficiency [RCV001277779]|not provided [RCV001392306] Chr4:186288503 [GRCh38]
Chr4:187209657 [GRCh37]
Chr4:4q35.2		 likely benign|uncertain significance
NM_000128.4(F11):c.1746A>G (p.Lys582=) single nucleotide variant not provided [RCV001310836] Chr4:186288482 [GRCh38]
Chr4:187209636 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1709C>G (p.Ala570Gly) single nucleotide variant Plasma factor XI deficiency [RCV001277777] Chr4:186287816 [GRCh38]
Chr4:187208970 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1725G>A (p.Ser575=) single nucleotide variant not provided [RCV001395874] Chr4:186288461 [GRCh38]
Chr4:187209615 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1858G>C (p.Glu620Gln) single nucleotide variant not provided [RCV001357306] Chr4:186288594 [GRCh38]
Chr4:187209748 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1830C>T (p.Asn610=) single nucleotide variant not provided [RCV001500263] Chr4:186288566 [GRCh38]
Chr4:187209720 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1518T>C (p.Asp506=) single nucleotide variant Plasma factor XI deficiency [RCV001832641]|not provided [RCV001491581] Chr4:186286452 [GRCh38]
Chr4:187207606 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1626C>T (p.Asn542=) single nucleotide variant not provided [RCV001472037] Chr4:186287733 [GRCh38]
Chr4:187208887 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1782C>T (p.Ser594=) single nucleotide variant not provided [RCV001407052] Chr4:186288518 [GRCh38]
Chr4:187209672 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1525G>A (p.Val509Ile) single nucleotide variant not provided [RCV001424827] Chr4:186286459 [GRCh38]
Chr4:187207613 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1717-8C>T single nucleotide variant not provided [RCV001439087] Chr4:186288445 [GRCh38]
Chr4:187209599 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1519A>C (p.Arg507=) single nucleotide variant not provided [RCV001409191] Chr4:186286453 [GRCh38]
Chr4:187207607 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1521A>G (p.Arg507=) single nucleotide variant not provided [RCV001411589] Chr4:186286455 [GRCh38]
Chr4:187207609 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1716+7G>A single nucleotide variant not provided [RCV001473882] Chr4:186287830 [GRCh38]
Chr4:187208984 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1560G>A (p.Gly520=) single nucleotide variant not provided [RCV001487340] Chr4:186286494 [GRCh38]
Chr4:187207648 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1577-297T>C single nucleotide variant not provided [RCV001617856] Chr4:186287387 [GRCh38]
Chr4:187208541 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1779G>A (p.Thr593=) single nucleotide variant not provided [RCV001481588] Chr4:186288515 [GRCh38]
Chr4:187209669 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1599G>A (p.Gln533=) single nucleotide variant Plasma factor XI deficiency [RCV001826380]|not provided [RCV001520726] Chr4:186287706 [GRCh38]
Chr4:187208860 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1788C>T (p.Gly596=) single nucleotide variant not provided [RCV001485381] Chr4:186288524 [GRCh38]
Chr4:187209678 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1746del (p.Lys582fs) deletion not provided [RCV001963113] Chr4:186288480 [GRCh38]
Chr4:187209634 [GRCh37]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1665C>T (p.Thr555=) single nucleotide variant not provided [RCV001975408] Chr4:186287772 [GRCh38]
Chr4:187208926 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.*1del (p.Ter626=) deletion not provided [RCV002095764] Chr4:186288614 [GRCh38]
Chr4:187209768 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1481-9T>A single nucleotide variant Hereditary factor XI deficiency disease [RCV002222079]|not provided [RCV002192875] Chr4:186286406 [GRCh38]
Chr4:187207560 [GRCh37]
Chr4:4q35.2		 likely benign|uncertain significance
NM_000128.4(F11):c.1704G>A (p.Lys568=) single nucleotide variant not provided [RCV002120165] Chr4:186287811 [GRCh38]
Chr4:187208965 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1812G>C (p.Arg604=) single nucleotide variant not provided [RCV002200350] Chr4:186288548 [GRCh38]
Chr4:187209702 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1852A>G (p.Ile618Val) single nucleotide variant Hereditary factor XI deficiency disease [RCV002222148] Chr4:186288588 [GRCh38]
Chr4:187209742 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1577-9T>G single nucleotide variant not provided [RCV002121122] Chr4:186287675 [GRCh38]
Chr4:187208829 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1632G>A (p.Glu544=) single nucleotide variant not provided [RCV002176274] Chr4:186287739 [GRCh38]
Chr4:187208893 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1731C>A (p.Gly577=) single nucleotide variant not provided [RCV002204714] Chr4:186288467 [GRCh38]
Chr4:187209621 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1731C>T (p.Gly577=) single nucleotide variant not provided [RCV002122210] Chr4:186288467 [GRCh38]
Chr4:187209621 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1633T>C (p.Cys545Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV002281536] Chr4:186287740 [GRCh38]
Chr4:187208894 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1727G>A (p.Gly576Glu) single nucleotide variant not provided [RCV002261758] Chr4:186288463 [GRCh38]
Chr4:187209617 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1576+9G>A single nucleotide variant not provided [RCV002889628] Chr4:186286519 [GRCh38]
Chr4:187207673 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1751A>G (p.Asn584Ser) single nucleotide variant Inborn genetic diseases [RCV002888750] Chr4:186288487 [GRCh38]
Chr4:187209641 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1810C>A (p.Arg604=) single nucleotide variant not provided [RCV003080927] Chr4:186288546 [GRCh38]
Chr4:187209700 [GRCh37]
Chr4:4q35.2		 likely benign
NC_000004.12:g.(186261554_186262508)_(?_186293752)del deletion Hereditary factor XI deficiency disease [RCV000012680] Chr4:186262508..186293752 [GRCh38]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1776C>T (p.Ile592=) single nucleotide variant not provided [RCV003082265] Chr4:186288512 [GRCh38]
Chr4:187209666 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1589A>G (p.Asn530Ser) single nucleotide variant Inborn genetic diseases [RCV002915211] Chr4:186287696 [GRCh38]
Chr4:187208850 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1726G>T (p.Gly576Ter) single nucleotide variant not provided [RCV003088561] Chr4:186288462 [GRCh38]
Chr4:187209616 [GRCh37]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1605C>T (p.Ala535=) single nucleotide variant not provided [RCV003090471] Chr4:186287712 [GRCh38]
Chr4:187208866 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1788C>A (p.Gly596=) single nucleotide variant not provided [RCV002676994] Chr4:186288524 [GRCh38]
Chr4:187209678 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.*194TTTG[1] microsatellite not provided [RCV003052587] Chr4:186288807..186288810 [GRCh38]
Chr4:187209961..187209964 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1837G>A (p.Glu613Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV003145080] Chr4:186288573 [GRCh38]
Chr4:187209727 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1634G>A (p.Cys545Tyr) single nucleotide variant Hereditary factor XI deficiency disease [RCV003333831] Chr4:186287741 [GRCh38]
Chr4:187208895 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1717-4C>T single nucleotide variant not provided [RCV003873954] Chr4:186288449 [GRCh38]
Chr4:187209603 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1725G>C (p.Ser575=) single nucleotide variant not provided [RCV003691183] Chr4:186288461 [GRCh38]
Chr4:187209615 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1866_1867del (p.Gln623fs) deletion not provided [RCV003481744] Chr4:186288601..186288602 [GRCh38]
Chr4:187209755..187209756 [GRCh37]
Chr4:4q35.2		 uncertain significance
NM_000128.4(F11):c.1831G>A (p.Val611Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV003404811] Chr4:186288567 [GRCh38]
Chr4:187209721 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1577-1G>C single nucleotide variant F11-related condition [RCV003416705] Chr4:186287683 [GRCh38]
Chr4:187208837 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1772G>A (p.Gly591Asp) single nucleotide variant not provided [RCV003576286] Chr4:186288508 [GRCh38]
Chr4:187209662 [GRCh37]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1717-16T>G single nucleotide variant not provided [RCV003740254] Chr4:186288437 [GRCh38]
Chr4:187209591 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1512del (p.Gly505fs) deletion not provided [RCV003881127] Chr4:186286444 [GRCh38]
Chr4:187207598 [GRCh37]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1576+19T>C single nucleotide variant not provided [RCV003573430] Chr4:186286529 [GRCh38]
Chr4:187207683 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1577-11dup duplication not provided [RCV003738965] Chr4:186287666..186287667 [GRCh38]
Chr4:187208820..187208821 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1716+6dup duplication not provided [RCV003878892] Chr4:186287828..186287829 [GRCh38]
Chr4:187208982..187208983 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1717-17G>A single nucleotide variant not provided [RCV003713200] Chr4:186288436 [GRCh38]
Chr4:187209590 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1577-18C>G single nucleotide variant not provided [RCV003659752] Chr4:186287666 [GRCh38]
Chr4:187208820 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1576+11T>C single nucleotide variant not provided [RCV003717792] Chr4:186286521 [GRCh38]
Chr4:187207675 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1717-17G>C single nucleotide variant not provided [RCV003726761] Chr4:186288436 [GRCh38]
Chr4:187209590 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1717-15C>G single nucleotide variant not provided [RCV003579869] Chr4:186288438 [GRCh38]
Chr4:187209592 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1735C>T (p.Leu579=) single nucleotide variant not provided [RCV003817375] Chr4:186288471 [GRCh38]
Chr4:187209625 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1717-7G>T single nucleotide variant not provided [RCV003561452] Chr4:186288446 [GRCh38]
Chr4:187209600 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1481-8A>T single nucleotide variant not provided [RCV003699423] Chr4:186286407 [GRCh38]
Chr4:187207561 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1710T>C (p.Ala570=) single nucleotide variant not provided [RCV003724468] Chr4:186287817 [GRCh38]
Chr4:187208971 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1481-16del deletion not provided [RCV003564812] Chr4:186286399 [GRCh38]
Chr4:187207553 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1577-11del deletion not provided [RCV003732790] Chr4:186287667 [GRCh38]
Chr4:187208821 [GRCh37]
Chr4:4q35.2		 benign
NM_000128.4(F11):c.1777A>T (p.Thr593Ser) single nucleotide variant not provided [RCV003732919] Chr4:186288513 [GRCh38]
Chr4:187209667 [GRCh37]
Chr4:4q35.2		 likely pathogenic
NM_000128.4(F11):c.1716+8_1716+9del microsatellite not provided [RCV003720442] Chr4:186287829..186287830 [GRCh38]
Chr4:187208983..187208984 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1557G>C (p.Trp519Cys) single nucleotide variant not provided [RCV003555172] Chr4:186286491 [GRCh38]
Chr4:187207645 [GRCh37]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1821T>C (p.Val607=) single nucleotide variant not provided [RCV003722878] Chr4:186288557 [GRCh38]
Chr4:187209711 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1481-15del deletion not provided [RCV003721662] Chr4:186286400 [GRCh38]
Chr4:187207554 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1481-14T>C single nucleotide variant not provided [RCV003721663] Chr4:186286401 [GRCh38]
Chr4:187207555 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1716+7G>T single nucleotide variant not provided [RCV003721875] Chr4:186287830 [GRCh38]
Chr4:187208984 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1577-11A>T single nucleotide variant not provided [RCV003732793] Chr4:186287673 [GRCh38]
Chr4:187208827 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1481-15_1481-14insCC insertion not provided [RCV003564813] Chr4:186286400..186286401 [GRCh38]
Chr4:187207554..187207555 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1627G>T (p.Glu543Ter) single nucleotide variant not provided [RCV003734058] Chr4:186287734 [GRCh38]
Chr4:187208888 [GRCh37]
Chr4:4q35.2		 pathogenic
NM_000128.4(F11):c.1481-17C>T single nucleotide variant not provided [RCV003731012] Chr4:186286398 [GRCh38]
Chr4:187207552 [GRCh37]
Chr4:4q35.2		 likely benign
NM_000128.4(F11):c.1481-20C>G single nucleotide variant not provided [RCV003848334] Chr4:186286395 [GRCh38]
Chr4:187207549 [GRCh37]
Chr4:4q35.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:234
Count of miRNA genes:175
Interacting mature miRNAs:178
Transcripts:ENST00000505103, ENST00000508110, ENST00000508287, ENST00000510172
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 22 22 22 3 1 321 1
Low 31 1 352 343 4 345 32 20 357 89 121 110 2 3 5
Below cutoff 1316 1065 796 183 377 74 1841 828 2828 122 585 866 113 385 1304 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NR_033900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB023800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB336253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB516619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000505103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4186,286,094 - 186,500,997 (-)Ensembl
RefSeq Acc Id: ENST00000508110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4186,423,728 - 186,500,997 (-)Ensembl
RefSeq Acc Id: ENST00000508287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4186,426,974 - 186,500,997 (-)Ensembl
RefSeq Acc Id: ENST00000510172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4186,423,728 - 186,426,293 (-)Ensembl
RefSeq Acc Id: ENST00000657917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4186,378,250 - 186,487,911 (-)Ensembl
RefSeq Acc Id: NR_033900
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,286,098 - 186,501,058 (-)NCBI
GRCh374187,207,252 - 187,422,212 (-)NCBI
HuRef4182,958,644 - 183,169,606 (-)NCBI
CHM1_14187,183,690 - 187,398,652 (-)NCBI
T2T-CHM13v2.04189,626,081 - 189,847,418 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033901
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,416,048 - 186,501,058 (-)NCBI
GRCh374187,207,252 - 187,422,212 (-)NCBI
CHM1_14187,313,612 - 187,398,652 (-)NCBI
T2T-CHM13v2.04189,755,777 - 189,847,418 (-)NCBI
Sequence:
Promoters
RGD ID:15095838
Promoter ID:EPDNEWNC_H681
Type:initiation region
Name:F11-AS1_1
Description:F11 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:27725]
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 AssemblyChrPosition (strand)Source
GRCh384186,500,994 - 186,501,054EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC F11-AS1 COSMIC
Ensembl Genes ENSG00000251165 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000505103 ENTREZGENE
  ENST00000508110 ENTREZGENE
GTEx ENSG00000251165 GTEx
HGNC ID HGNC:27725 ENTREZGENE
Human Proteome Map F11-AS1 Human Proteome Map
NCBI Gene F11-AS1 ENTREZGENE
RNAcentral URS000075DD97 RNACentral
  URS0000A76B84 RNACentral