NEO1 (neogenin 1) - Rat Genome Database

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Gene: NEO1 (neogenin 1) Homo sapiens
Analyze
Symbol: NEO1
Name: neogenin 1
RGD ID: 733424
HGNC Page HGNC:7754
Description: Enables co-receptor binding activity. Acts upstream of or within multicellular organismal-level iron ion homeostasis. Located in Golgi apparatus; nucleoplasm; and plasma membrane. Part of plasma membrane protein complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp547A066; DKFZp547B146; HsT17534; IGDCC2; immunoglobulin superfamily DCC subclass member 2; neogenin; neogenin homolog 1; NGN; NTN1R2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381573,051,692 - 73,305,206 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1573,051,710 - 73,305,205 (+)EnsemblGRCh38hg38GRCh38
GRCh371573,344,804 - 73,597,547 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361571,131,928 - 71,384,599 (+)NCBINCBI36Build 36hg18NCBI36
Build 341571,131,927 - 71,382,835NCBI
Celera1550,287,439 - 50,476,112 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1550,240,408 - 50,428,957 (+)NCBIHuRef
CHM1_11573,462,785 - 73,715,509 (+)NCBICHM1_1
T2T-CHM13v2.01570,868,937 - 71,122,333 (+)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
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGMA and neogenin protein expression are influenced by lens injury following optic nerve crush in the rat retina. Schnichels S, etal., Graefes Arch Clin Exp Ophthalmol. 2012 Jan;250(1):39-50. doi: 10.1007/s00417-011-1791-9. Epub 2011 Sep 2.
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9121761   PMID:9169140   PMID:12477932   PMID:12833147   PMID:15258591   PMID:15489334   PMID:15494733   PMID:15520228   PMID:15923648   PMID:16075058   PMID:16244667   PMID:16324219  
PMID:16335952   PMID:18029348   PMID:18287331   PMID:18326817   PMID:18335997   PMID:18391016   PMID:18445598   PMID:18583991   PMID:19322201   PMID:19564337   PMID:19570425   PMID:20237496  
PMID:20575069   PMID:20971194   PMID:21149453   PMID:21873635   PMID:22084112   PMID:22199357   PMID:22396795   PMID:22666451   PMID:22705235   PMID:22893705   PMID:23414517   PMID:23744777  
PMID:23775842   PMID:24657544   PMID:24930499   PMID:25416629   PMID:25909166   PMID:25938661   PMID:25998984   PMID:26186194   PMID:26439863   PMID:26518331   PMID:27029596   PMID:27288875  
PMID:27716118   PMID:28038459   PMID:28514442   PMID:29507755   PMID:30064133   PMID:30194290   PMID:30222138   PMID:30639242   PMID:30858446   PMID:31871319   PMID:32231305   PMID:33571520  
PMID:33845483   PMID:33850017   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34672954   PMID:35844135   PMID:36215168   PMID:36361539   PMID:38156865   PMID:38891874  


Genomics

Comparative Map Data
NEO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381573,051,692 - 73,305,206 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1573,051,710 - 73,305,205 (+)EnsemblGRCh38hg38GRCh38
GRCh371573,344,804 - 73,597,547 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361571,131,928 - 71,384,599 (+)NCBINCBI36Build 36hg18NCBI36
Build 341571,131,927 - 71,382,835NCBI
Celera1550,287,439 - 50,476,112 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1550,240,408 - 50,428,957 (+)NCBIHuRef
CHM1_11573,462,785 - 73,715,509 (+)NCBICHM1_1
T2T-CHM13v2.01570,868,937 - 71,122,333 (+)NCBIT2T-CHM13v2.0
Neo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39958,781,962 - 58,943,926 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl958,781,970 - 58,943,724 (-)EnsemblGRCm39 Ensembl
GRCm38958,874,679 - 59,036,614 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl958,874,687 - 59,036,441 (-)EnsemblGRCm38mm10GRCm38
MGSCv37958,722,486 - 58,884,248 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36958,674,677 - 58,834,445 (-)NCBIMGSCv36mm8
Celera956,103,366 - 56,261,719 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.81NCBI
Neo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8868,169,711 - 68,322,158 (-)NCBIGRCr8
mRatBN7.2859,273,860 - 59,426,486 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl859,275,569 - 59,430,348 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0863,649,871 - 63,756,394 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl863,653,266 - 63,750,531 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0863,417,857 - 63,524,875 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4862,681,481 - 62,789,841 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1862,702,413 - 62,806,918 (-)NCBI
Celera858,729,882 - 58,837,487 (-)NCBICelera
Cytogenetic Map8q24NCBI
Neo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554504,191,168 - 4,375,896 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554504,191,168 - 4,324,997 (-)NCBIChiLan1.0ChiLan1.0
NEO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21662,281,800 - 62,534,799 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11566,446,196 - 66,699,224 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01551,968,238 - 52,221,116 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11570,680,970 - 70,979,687 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1570,789,035 - 70,977,178 (+)Ensemblpanpan1.1panPan2
NEO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13036,387,425 - 36,622,491 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3036,387,259 - 36,622,154 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3036,323,434 - 36,559,824 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03036,594,775 - 36,830,997 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3036,594,757 - 36,830,992 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13036,547,002 - 36,782,998 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03036,572,984 - 36,808,890 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03036,829,242 - 37,064,354 (+)NCBIUU_Cfam_GSD_1.0
Neo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640114,443,410 - 114,671,197 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647132,292,745 - 32,516,624 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647132,345,578 - 32,517,245 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl760,064,994 - 60,300,562 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1760,064,984 - 60,299,892 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2764,688,218 - 64,785,685 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NEO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12610,173,707 - 10,427,732 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2610,176,215 - 10,427,675 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048131,173,745 - 131,432,558 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Neo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247811,019,603 - 1,227,666 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247811,021,460 - 1,227,680 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEO1
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002499.3(NEO1):c.131-19353G>T single nucleotide variant Lung cancer [RCV000099650] Chr15:73097187 [GRCh38]
Chr15:73389528 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.3(NEO1):c.1292-13787C>T single nucleotide variant Lung cancer [RCV000099651] Chr15:73222560 [GRCh38]
Chr15:73514901 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.3(NEO1):c.2494+1282C>A single nucleotide variant Lung cancer [RCV000099652] Chr15:73267693 [GRCh38]
Chr15:73560034 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1 copy number loss See cases [RCV000050780] Chr15:68830574..73823337 [GRCh38]
Chr15:69122913..74115678 [GRCh37]
Chr15:66909967..71902731 [NCBI36]
Chr15:15q23-24.1
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.1(chr15:72671629-74051557)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052482]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052482]|See cases [RCV000052482] Chr15:72671629..74051557 [GRCh38]
Chr15:72963970..74343898 [GRCh37]
Chr15:70751023..72130951 [NCBI36]
Chr15:15q24.1
pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2
pathogenic
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala) single nucleotide variant not provided [RCV000087203] Chr15:73272532 [GRCh38]
Chr15:73564873 [GRCh37]
Chr15:15q24.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2
likely pathogenic|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2
not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_002499.4(NEO1):c.1652C>T (p.Ser551Leu) single nucleotide variant not specified [RCV004298747] Chr15:73249105 [GRCh38]
Chr15:73541446 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2158G>C (p.Ala720Pro) single nucleotide variant not specified [RCV004306472] Chr15:73258831 [GRCh38]
Chr15:73551172 [GRCh37]
Chr15:15q24.1
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2
likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_002499.4(NEO1):c.44C>A (p.Ser15Tyr) single nucleotide variant not specified [RCV004282518] Chr15:73052719 [GRCh38]
Chr15:73345060 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1(chr15:73436105-73502838)x1 copy number loss not provided [RCV000762694] Chr15:73436105..73502838 [GRCh37]
Chr15:15q24.1
likely benign
NC_000015.10:g.(?_72353681)_(73368280_?)dup duplication Brugada syndrome 8 [RCV001031726] Chr15:72646022..73660621 [GRCh37]
Chr15:15q23-24.1
uncertain significance
NM_002499.4(NEO1):c.4266G>A (p.Val1422=) single nucleotide variant NEO1-related disorder [RCV003960798]|not provided [RCV000968310] Chr15:73301421 [GRCh38]
Chr15:73593762 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.1401C>T (p.His467=) single nucleotide variant not provided [RCV000968309] Chr15:73236456 [GRCh38]
Chr15:73528797 [GRCh37]
Chr15:15q24.1
benign
GRCh37/hg19 15q24.1(chr15:73449002-73477563)x1 copy number loss not provided [RCV000849443] Chr15:73449002..73477563 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1(chr15:73449002-73485650)x1 copy number loss not provided [RCV000846859] Chr15:73449002..73485650 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_002499.4(NEO1):c.911G>A (p.Ser304Asn) single nucleotide variant not provided [RCV000907201] Chr15:73135923 [GRCh38]
Chr15:73428264 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.879-8T>A single nucleotide variant NEO1-related disorder [RCV003978209]|not provided [RCV000950240] Chr15:73135883 [GRCh38]
Chr15:73428224 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.663C>T (p.Cys221=) single nucleotide variant NEO1-related disorder [RCV003915948]|not provided [RCV000957687] Chr15:73122739 [GRCh38]
Chr15:73415080 [GRCh37]
Chr15:15q24.1
benign|likely benign
GRCh37/hg19 15q24.1(chr15:73525422-73571525)x1 copy number loss Lower limb spasticity [RCV001004820] Chr15:73525422..73571525 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1 copy number loss not provided [RCV001259707] Chr15:70268937..74098081 [GRCh37]
Chr15:15q23-24.1
likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_002499.4(NEO1):c.1114G>A (p.Val372Met) single nucleotide variant not specified [RCV004305656] Chr15:73176501 [GRCh38]
Chr15:73468842 [GRCh37]
Chr15:15q24.1
uncertain significance
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NC_000015.9:g.(?_72103084)_(74244178_?)del deletion Tay-Sachs disease [RCV001972852] Chr15:72103084..74244178 [GRCh37]
Chr15:15q23-24.1
pathogenic
NC_000015.9:g.(?_72636418)_(73660611_?)dup duplication Tay-Sachs disease [RCV003111340] Chr15:72636418..73660611 [GRCh37]
Chr15:15q23-24.1
uncertain significance
NC_000015.9:g.(?_72847592)_(73660611_?)dup duplication Brugada syndrome 8 [RCV003116373] Chr15:72847592..73660611 [GRCh37]
Chr15:15q24.1
uncertain significance
NC_000015.9:g.(?_72978569)_(75190071_?)dup duplication Bardet-Biedl syndrome [RCV003122929] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3718C>G (p.Pro1240Ala) single nucleotide variant not specified [RCV004298623] Chr15:73289214 [GRCh38]
Chr15:73581555 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.275T>C (p.Phe92Ser) single nucleotide variant not specified [RCV004139321] Chr15:73116684 [GRCh38]
Chr15:73409025 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.706G>A (p.Glu236Lys) single nucleotide variant not specified [RCV004191089] Chr15:73122782 [GRCh38]
Chr15:73415123 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3578A>G (p.Asn1193Ser) single nucleotide variant not specified [RCV004240430] Chr15:73288480 [GRCh38]
Chr15:73580821 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2065G>A (p.Gly689Arg) single nucleotide variant not specified [RCV004135813] Chr15:73254802 [GRCh38]
Chr15:73547143 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.907G>A (p.Gly303Ser) single nucleotide variant not specified [RCV004197229] Chr15:73135919 [GRCh38]
Chr15:73428260 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2015G>A (p.Arg672His) single nucleotide variant not specified [RCV004196581] Chr15:73254752 [GRCh38]
Chr15:73547093 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3038A>G (p.Asn1013Ser) single nucleotide variant not specified [RCV004245580] Chr15:73273883 [GRCh38]
Chr15:73566224 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.295G>A (p.Asp99Asn) single nucleotide variant not specified [RCV004188147] Chr15:73116704 [GRCh38]
Chr15:73409045 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1180A>G (p.Asn394Asp) single nucleotide variant not specified [RCV004129359] Chr15:73178316 [GRCh38]
Chr15:73470657 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2269A>G (p.Ser757Gly) single nucleotide variant not specified [RCV004153536] Chr15:73260336 [GRCh38]
Chr15:73552677 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1201G>T (p.Val401Leu) single nucleotide variant not specified [RCV004242238] Chr15:73178337 [GRCh38]
Chr15:73470678 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1522G>T (p.Val508Leu) single nucleotide variant not specified [RCV004182330] Chr15:73244414 [GRCh38]
Chr15:73536755 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2974A>C (p.Ile992Leu) single nucleotide variant not specified [RCV004181178] Chr15:73273819 [GRCh38]
Chr15:73566160 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.457A>G (p.Arg153Gly) single nucleotide variant not specified [RCV004100743] Chr15:73122533 [GRCh38]
Chr15:73414874 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3161C>T (p.Ala1054Val) single nucleotide variant not specified [RCV004203177] Chr15:73274692 [GRCh38]
Chr15:73567033 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3962G>A (p.Cys1321Tyr) single nucleotide variant not specified [RCV004074456] Chr15:73298408 [GRCh38]
Chr15:73590749 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3386G>A (p.Arg1129His) single nucleotide variant not specified [RCV004156642] Chr15:73283087 [GRCh38]
Chr15:73575428 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2912A>G (p.Lys971Arg) single nucleotide variant not specified [RCV004176652] Chr15:73272509 [GRCh38]
Chr15:73564850 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.503A>G (p.Asn168Ser) single nucleotide variant not specified [RCV004162313] Chr15:73122579 [GRCh38]
Chr15:73414920 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.613A>T (p.Met205Leu) single nucleotide variant not specified [RCV004137566] Chr15:73122689 [GRCh38]
Chr15:73415030 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.4021G>C (p.Glu1341Gln) single nucleotide variant not specified [RCV004169368] Chr15:73298467 [GRCh38]
Chr15:73590808 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2156C>T (p.Pro719Leu) single nucleotide variant not specified [RCV004115742] Chr15:73258829 [GRCh38]
Chr15:73551170 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.103A>T (p.Arg35Trp) single nucleotide variant not specified [RCV004215571] Chr15:73052778 [GRCh38]
Chr15:73345119 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3524T>C (p.Ile1175Thr) single nucleotide variant not specified [RCV004203726] Chr15:73288426 [GRCh38]
Chr15:73580767 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2075T>C (p.Leu692Pro) single nucleotide variant not specified [RCV004071319] Chr15:73254812 [GRCh38]
Chr15:73547153 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3272G>A (p.Ser1091Asn) single nucleotide variant not specified [RCV004178808] Chr15:73282973 [GRCh38]
Chr15:73575314 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3907G>T (p.Val1303Phe) single nucleotide variant not specified [RCV004144463] Chr15:73298353 [GRCh38]
Chr15:73590694 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3445C>T (p.His1149Tyr) single nucleotide variant not specified [RCV004174292] Chr15:73288347 [GRCh38]
Chr15:73580688 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1673C>G (p.Thr558Arg) single nucleotide variant not specified [RCV004130313] Chr15:73249126 [GRCh38]
Chr15:73541467 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1304C>T (p.Thr435Met) single nucleotide variant not specified [RCV004241930] Chr15:73236359 [GRCh38]
Chr15:73528700 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3561T>G (p.Asp1187Glu) single nucleotide variant not specified [RCV004079238] Chr15:73288463 [GRCh38]
Chr15:73580804 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3682G>T (p.Ala1228Ser) single nucleotide variant not specified [RCV004174067] Chr15:73289178 [GRCh38]
Chr15:73581519 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1381A>G (p.Thr461Ala) single nucleotide variant not specified [RCV004089281] Chr15:73236436 [GRCh38]
Chr15:73528777 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2251G>A (p.Val751Ile) single nucleotide variant not specified [RCV004187724] Chr15:73260318 [GRCh38]
Chr15:73552659 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3416G>A (p.Arg1139Gln) single nucleotide variant not specified [RCV004224877] Chr15:73288318 [GRCh38]
Chr15:73580659 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.737T>A (p.Ile246Lys) single nucleotide variant not specified [RCV004297351] Chr15:73126429 [GRCh38]
Chr15:73418770 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3128T>A (p.Met1043Lys) single nucleotide variant not specified [RCV004255388] Chr15:73273973 [GRCh38]
Chr15:73566314 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2032C>G (p.Arg678Gly) single nucleotide variant not specified [RCV004273780] Chr15:73254769 [GRCh38]
Chr15:73547110 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1766T>C (p.Val589Ala) single nucleotide variant not specified [RCV004287146] Chr15:73249593 [GRCh38]
Chr15:73541934 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2636T>C (p.Leu879Pro) single nucleotide variant not specified [RCV004267743] Chr15:73270151 [GRCh38]
Chr15:73562492 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1
pathogenic
NM_002499.4(NEO1):c.1880G>A (p.Arg627Gln) single nucleotide variant not specified [RCV004254141] Chr15:73249707 [GRCh38]
Chr15:73542048 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2021G>A (p.Arg674Gln) single nucleotide variant not specified [RCV004290952] Chr15:73254758 [GRCh38]
Chr15:73547099 [GRCh37]
Chr15:15q24.1
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_002499.4(NEO1):c.2009A>G (p.Lys670Arg) single nucleotide variant not specified [RCV004363606] Chr15:73254746 [GRCh38]
Chr15:73547087 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3734C>T (p.Pro1245Leu) single nucleotide variant not specified [RCV004334840] Chr15:73289230 [GRCh38]
Chr15:73581571 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1985A>G (p.Gln662Arg) single nucleotide variant NEO1-related disorder [RCV003421074] Chr15:73254722 [GRCh38]
Chr15:73547063 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.4157C>G (p.Ser1386Cys) single nucleotide variant not specified [RCV004363880] Chr15:73298603 [GRCh38]
Chr15:73590944 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2143A>G (p.Asn715Asp) single nucleotide variant not specified [RCV004347440] Chr15:73258816 [GRCh38]
Chr15:73551157 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2443G>A (p.Val815Met) single nucleotide variant not specified [RCV004345033] Chr15:73266360 [GRCh38]
Chr15:73558701 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3370G>T (p.Ala1124Ser) single nucleotide variant not specified [RCV004334583] Chr15:73283071 [GRCh38]
Chr15:73575412 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3955A>G (p.Thr1319Ala) single nucleotide variant not specified [RCV004342645] Chr15:73298401 [GRCh38]
Chr15:73590742 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.53T>C (p.Leu18Pro) single nucleotide variant not provided [RCV003394976] Chr15:73052728 [GRCh38]
Chr15:73345069 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2807G>A (p.Arg936Gln) single nucleotide variant NEO1-related disorder [RCV003399594] Chr15:73270404 [GRCh38]
Chr15:73562745 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.471A>G (p.Gln157=) single nucleotide variant NEO1-related disorder [RCV003941455] Chr15:73122547 [GRCh38]
Chr15:73414888 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.1015+6T>C single nucleotide variant NEO1-related disorder [RCV003969383] Chr15:73136033 [GRCh38]
Chr15:73428374 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.1411C>G (p.Leu471Val) single nucleotide variant not specified [RCV004488909] Chr15:73236466 [GRCh38]
Chr15:73528807 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.359A>G (p.Asn120Ser) single nucleotide variant not specified [RCV004489024] Chr15:73116768 [GRCh38]
Chr15:73409109 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.747G>C (p.Leu249Phe) single nucleotide variant not specified [RCV004489093] Chr15:73126439 [GRCh38]
Chr15:73418780 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3716T>C (p.Met1239Thr) single nucleotide variant not specified [RCV004489037] Chr15:73289212 [GRCh38]
Chr15:73581553 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3719C>G (p.Pro1240Arg) single nucleotide variant not specified [RCV004489043] Chr15:73289215 [GRCh38]
Chr15:73581556 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.879-11_879-8del deletion NEO1-related disorder [RCV003907323] Chr15:73135864..73135867 [GRCh38]
Chr15:73428205..73428208 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.725-6T>G single nucleotide variant NEO1-related disorder [RCV003967284] Chr15:73126411 [GRCh38]
Chr15:73418752 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.2887G>A (p.Val963Ile) single nucleotide variant NEO1-related disorder [RCV003969829] Chr15:73272484 [GRCh38]
Chr15:73564825 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.1697A>G (p.Asn566Ser) single nucleotide variant not specified [RCV004488928] Chr15:73249150 [GRCh38]
Chr15:73541491 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3611T>C (p.Met1204Thr) single nucleotide variant not specified [RCV004489030] Chr15:73288513 [GRCh38]
Chr15:73580854 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1657A>G (p.Thr553Ala) single nucleotide variant not specified [RCV004488919] Chr15:73249110 [GRCh38]
Chr15:73541451 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2357A>T (p.Lys786Ile) single nucleotide variant not specified [RCV004488977] Chr15:73260424 [GRCh38]
Chr15:73552765 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1052A>T (p.Tyr351Phe) single nucleotide variant not specified [RCV004488889] Chr15:73176439 [GRCh38]
Chr15:73468780 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1843C>T (p.His615Tyr) single nucleotide variant not specified [RCV004488935] Chr15:73249670 [GRCh38]
Chr15:73542011 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.2791A>C (p.Met931Leu) single nucleotide variant not specified [RCV004488991] Chr15:73270388 [GRCh38]
Chr15:73562729 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3610A>T (p.Met1204Leu) single nucleotide variant not specified [RCV004489028] Chr15:73288512 [GRCh38]
Chr15:73580853 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.3775G>A (p.Asp1259Asn) single nucleotide variant not specified [RCV004489051] Chr15:73293422 [GRCh38]
Chr15:73585763 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.911G>T (p.Ser304Ile) single nucleotide variant not specified [RCV004489108] Chr15:73135923 [GRCh38]
Chr15:73428264 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.725-4_725-3del deletion NEO1-related disorder [RCV003927278] Chr15:73126401..73126402 [GRCh38]
Chr15:73418742..73418743 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.1291+9G>T single nucleotide variant NEO1-related disorder [RCV003927342] Chr15:73178436 [GRCh38]
Chr15:73470777 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.879-10_879-8del deletion NEO1-related disorder [RCV003919453] Chr15:73135864..73135866 [GRCh38]
Chr15:73428205..73428207 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.542C>T (p.Pro181Leu) single nucleotide variant NEO1-related disorder [RCV003931580] Chr15:73122618 [GRCh38]
Chr15:73414959 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.1282C>T (p.Leu428Phe) single nucleotide variant NEO1-related disorder [RCV003924756] Chr15:73178418 [GRCh38]
Chr15:73470759 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.1338G>A (p.Val446=) single nucleotide variant NEO1-related disorder [RCV003894235] Chr15:73236393 [GRCh38]
Chr15:73528734 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.2092+8A>G single nucleotide variant NEO1-related disorder [RCV003914350] Chr15:73254837 [GRCh38]
Chr15:73547178 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.2092+6C>A single nucleotide variant NEO1-related disorder [RCV003909694] Chr15:73254835 [GRCh38]
Chr15:73547176 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.2204-14_2204-2dup duplication NEO1-related disorder [RCV003932212] Chr15:73260253..73260254 [GRCh38]
Chr15:73552594..73552595 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.1719A>G (p.Lys573=) single nucleotide variant NEO1-related disorder [RCV003984521] Chr15:73249172 [GRCh38]
Chr15:73541513 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.2676C>T (p.Thr892=) single nucleotide variant NEO1-related disorder [RCV003964299] Chr15:73270191 [GRCh38]
Chr15:73562532 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.1458T>C (p.Arg486=) single nucleotide variant NEO1-related disorder [RCV003903888] Chr15:73244350 [GRCh38]
Chr15:73536691 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.3948G>A (p.Ser1316=) single nucleotide variant NEO1-related disorder [RCV003976323] Chr15:73298394 [GRCh38]
Chr15:73590735 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.2943C>T (p.Ser981=) single nucleotide variant NEO1-related disorder [RCV003982178] Chr15:73272540 [GRCh38]
Chr15:73564881 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.3279T>G (p.His1093Gln) single nucleotide variant NEO1-related disorder [RCV003914042] Chr15:73282980 [GRCh38]
Chr15:73575321 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.1895-9T>C single nucleotide variant NEO1-related disorder [RCV003982247] Chr15:73253391 [GRCh38]
Chr15:73545732 [GRCh37]
Chr15:15q24.1
benign
NM_002499.4(NEO1):c.4290A>G (p.Glu1430=) single nucleotide variant NEO1-related disorder [RCV003944029] Chr15:73301445 [GRCh38]
Chr15:73593786 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.664G>A (p.Val222Ile) single nucleotide variant not specified [RCV004489083] Chr15:73122740 [GRCh38]
Chr15:73415081 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.264A>G (p.Lys88=) single nucleotide variant NEO1-related disorder [RCV003949267] Chr15:73116673 [GRCh38]
Chr15:73409014 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.851A>G (p.Lys284Arg) single nucleotide variant not specified [RCV004489098] Chr15:73126543 [GRCh38]
Chr15:73418884 [GRCh37]
Chr15:15q24.1
uncertain significance
NM_002499.4(NEO1):c.4368C>T (p.Asn1456=) single nucleotide variant NEO1-related disorder [RCV003944398] Chr15:73302678 [GRCh38]
Chr15:73595019 [GRCh37]
Chr15:15q24.1
likely benign
NM_002499.4(NEO1):c.879-12_879-8del deletion NEO1-related disorder [RCV003951954] Chr15:73135864..73135868 [GRCh38]
Chr15:73428205..73428209 [GRCh37]
Chr15:15q24.1
likely benign
NC_000015.9:g.(?_72978569)_(75190071_?)del deletion Brugada syndrome 8 [RCV004583054] Chr15:72978569..75190071 [GRCh37] uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5002
Count of miRNA genes:1052
Interacting mature miRNAs:1280
Transcripts:ENST00000261908, ENST00000339362, ENST00000558485, ENST00000558807, ENST00000558886, ENST00000558964, ENST00000560262, ENST00000560328, ENST00000560352, ENST00000560407, ENST00000560808
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D15S905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,597,336 - 73,597,536UniSTSGRCh37
Build 361571,384,389 - 71,384,589RGDNCBI36
Celera1550,475,901 - 50,476,101RGD
Cytogenetic Map15q22.3-q23UniSTS
HuRef1550,428,746 - 50,428,946UniSTS
Whitehead-YAC Contig Map15 UniSTS
RH93091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,565,084 - 73,565,223UniSTSGRCh37
Build 361571,352,137 - 71,352,276RGDNCBI36
Celera1550,443,633 - 50,443,772RGD
Cytogenetic Map15q22.3-q23UniSTS
HuRef1550,396,533 - 50,396,672UniSTS
GeneMap99-GB4 RH Map15254.56UniSTS
WI-15859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,473,022 - 73,473,168UniSTSGRCh37
Build 361571,260,075 - 71,260,221RGDNCBI36
Celera1550,351,575 - 50,351,721RGD
Cytogenetic Map15q22.3-q23UniSTS
HuRef1550,304,469 - 50,304,615UniSTS
GeneMap99-GB4 RH Map15252.15UniSTS
Whitehead-RH Map15247.3UniSTS
NEO1_8502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,595,103 - 73,595,904UniSTSGRCh37
Build 361571,382,156 - 71,382,957RGDNCBI36
Celera1550,473,668 - 50,474,469RGD
HuRef1550,426,513 - 50,427,314UniSTS
D15S622E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,597,358 - 73,597,477UniSTSGRCh37
Build 361571,384,411 - 71,384,530RGDNCBI36
Celera1550,475,923 - 50,476,042RGD
Cytogenetic Map15q22.3-q23UniSTS
HuRef1550,428,768 - 50,428,887UniSTS
GeneMap99-GB4 RH Map15258.61UniSTS
L18126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,410,093 - 73,410,442UniSTSGRCh37
Build 361571,197,146 - 71,197,495RGDNCBI36
Celera1550,288,654 - 50,289,003RGD
Cytogenetic Map15q22.3-q23UniSTS
HuRef1550,241,622 - 50,241,971UniSTS
G17863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,526,366 - 73,526,490UniSTSGRCh37
Build 361571,313,419 - 71,313,543RGDNCBI36
Celera1550,404,921 - 50,405,045RGD
Cytogenetic Map15q22.3-q23UniSTS
HuRef1550,357,814 - 50,357,938UniSTS
G31056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,576,298 - 73,576,438UniSTSGRCh37
Build 361571,363,351 - 71,363,491RGDNCBI36
Celera1550,454,848 - 50,454,988RGD
Cytogenetic Map15q22.3-q23UniSTS
HuRef1550,407,702 - 50,407,842UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2290 1364 991 213 300 80 3662 1422 3213 319 1347 1484 140 672 2482
Low 143 1450 733 410 1358 385 691 767 518 100 108 124 34 532 306 4 1
Below cutoff 6 172 2 287 3 8 3 4 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001419531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC129980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM564445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB458571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB478373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261908   ⟹   ENSP00000261908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,052,463 - 73,305,205 (+)Ensembl
RefSeq Acc Id: ENST00000339362   ⟹   ENSP00000341198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,051,710 - 73,305,205 (+)Ensembl
RefSeq Acc Id: ENST00000558485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,122,634 - 73,126,623 (+)Ensembl
RefSeq Acc Id: ENST00000558807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,254,717 - 73,259,111 (+)Ensembl
RefSeq Acc Id: ENST00000558886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,298,299 - 73,301,550 (+)Ensembl
RefSeq Acc Id: ENST00000558964   ⟹   ENSP00000453200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,052,610 - 73,302,718 (+)Ensembl
RefSeq Acc Id: ENST00000560262   ⟹   ENSP00000453317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,052,610 - 73,302,718 (+)Ensembl
RefSeq Acc Id: ENST00000560328   ⟹   ENSP00000454024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,135,985 - 73,305,198 (+)Ensembl
RefSeq Acc Id: ENST00000560352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,221,693 - 73,249,641 (+)Ensembl
RefSeq Acc Id: ENST00000560407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,221,919 - 73,244,482 (+)Ensembl
RefSeq Acc Id: ENST00000560808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,289,074 - 73,302,933 (+)Ensembl
RefSeq Acc Id: NM_001172623   ⟹   NP_001166094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,052,463 - 73,305,205 (+)NCBI
GRCh371573,344,056 - 73,597,547 (+)NCBI
HuRef1550,240,408 - 50,428,957 (+)ENTREZGENE
CHM1_11573,462,785 - 73,715,509 (+)NCBI
T2T-CHM13v2.01570,869,741 - 71,122,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172624   ⟹   NP_001166095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,205 (+)NCBI
GRCh371573,344,056 - 73,597,547 (+)NCBI
HuRef1550,240,408 - 50,428,957 (+)ENTREZGENE
CHM1_11573,462,785 - 73,715,509 (+)NCBI
T2T-CHM13v2.01570,869,183 - 71,122,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001419531   ⟹   NP_001406460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,205 (+)NCBI
T2T-CHM13v2.01570,869,183 - 71,122,332 (+)NCBI
RefSeq Acc Id: NM_002499   ⟹   NP_002490
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,052,463 - 73,305,205 (+)NCBI
GRCh371573,344,056 - 73,597,547 (+)NCBI
Build 361571,131,928 - 71,384,599 (+)NCBI Archive
HuRef1550,240,408 - 50,428,957 (+)ENTREZGENE
CHM1_11573,462,785 - 73,715,509 (+)NCBI
T2T-CHM13v2.01570,869,741 - 71,122,332 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521628   ⟹   XP_011519930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521629   ⟹   XP_011519931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521630   ⟹   XP_011519932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521632   ⟹   XP_011519934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521633   ⟹   XP_011519935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022231   ⟹   XP_016877720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022232   ⟹   XP_016877721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022233   ⟹   XP_016877722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022234   ⟹   XP_016877723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022237   ⟹   XP_016877726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432586   ⟹   XP_047288542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432587   ⟹   XP_047288543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432589   ⟹   XP_047288545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432590   ⟹   XP_047288546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432591   ⟹   XP_047288547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,692 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432592   ⟹   XP_047288548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432593   ⟹   XP_047288549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432594   ⟹   XP_047288550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432595   ⟹   XP_047288551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432596   ⟹   XP_047288552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432597   ⟹   XP_047288553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432598   ⟹   XP_047288554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432599   ⟹   XP_047288555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432600   ⟹   XP_047288556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,902 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_047432601   ⟹   XP_047288557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,052,463 - 73,305,206 (+)NCBI
RefSeq Acc Id: XM_054378026   ⟹   XP_054234001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378027   ⟹   XP_054234002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378028   ⟹   XP_054234003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378029   ⟹   XP_054234004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378030   ⟹   XP_054234005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,944 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378032   ⟹   XP_054234007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378033   ⟹   XP_054234008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378035   ⟹   XP_054234010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378036   ⟹   XP_054234011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378037   ⟹   XP_054234012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378038   ⟹   XP_054234013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,973 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378039   ⟹   XP_054234014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378040   ⟹   XP_054234015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,947 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378041   ⟹   XP_054234016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378042   ⟹   XP_054234017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378043   ⟹   XP_054234018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378044   ⟹   XP_054234019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,947 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378045   ⟹   XP_054234020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378046   ⟹   XP_054234021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378047   ⟹   XP_054234022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,937 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378048   ⟹   XP_054234023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378049   ⟹   XP_054234024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378050   ⟹   XP_054234025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,947 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378051   ⟹   XP_054234026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,868,965 - 71,122,333 (+)NCBI
RefSeq Acc Id: XM_054378052   ⟹   XP_054234027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01570,869,741 - 71,122,333 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001166094 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001406460 (Get FASTA)   NCBI Sequence Viewer  
  NP_002490 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519930 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519931 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519932 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519934 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519935 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877720 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877721 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877722 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877723 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877726 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288542 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288543 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288546 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288547 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288548 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288549 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288550 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288551 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288552 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288553 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288554 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288555 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234001 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234002 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234003 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234004 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234005 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234007 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234008 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234010 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234011 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234014 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234015 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234016 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234017 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234018 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234019 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234020 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234023 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234024 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234025 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234026 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234027 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17263 (Get FASTA)   NCBI Sequence Viewer  
  AAC51287 (Get FASTA)   NCBI Sequence Viewer  
  AAI17162 (Get FASTA)   NCBI Sequence Viewer  
  AAI43271 (Get FASTA)   NCBI Sequence Viewer  
  AAI43272 (Get FASTA)   NCBI Sequence Viewer  
  BAD92649 (Get FASTA)   NCBI Sequence Viewer  
  EAW77923 (Get FASTA)   NCBI Sequence Viewer  
  EAW77924 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261908
  ENSP00000261908.6
  ENSP00000341198
  ENSP00000341198.5
  ENSP00000453200
  ENSP00000453200.1
  ENSP00000453317
  ENSP00000453317.1
  ENSP00000454024.1
GenBank Protein Q92859 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002490   ⟸   NM_002499
- Peptide Label: isoform 1 precursor
- UniProtKB: O00340 (UniProtKB/Swiss-Prot),   B7ZKN0 (UniProtKB/Swiss-Prot),   B7ZKM9 (UniProtKB/Swiss-Prot),   Q17RX1 (UniProtKB/Swiss-Prot),   Q92859 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166094   ⟸   NM_001172623
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: NP_001166095   ⟸   NM_001172624
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: XP_011519930   ⟸   XM_011521628
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011519935   ⟸   XM_011521633
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011519931   ⟸   XM_011521629
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011519934   ⟸   XM_011521632
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011519932   ⟸   XM_011521630
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016877721   ⟸   XM_017022232
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016877723   ⟸   XM_017022234
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016877722   ⟸   XM_017022233
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016877726   ⟸   XM_017022237
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_016877720   ⟸   XM_017022231
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000453200   ⟸   ENST00000558964
RefSeq Acc Id: ENSP00000454024   ⟸   ENST00000560328
RefSeq Acc Id: ENSP00000453317   ⟸   ENST00000560262
RefSeq Acc Id: ENSP00000341198   ⟸   ENST00000339362
RefSeq Acc Id: ENSP00000261908   ⟸   ENST00000261908
RefSeq Acc Id: XP_047288547   ⟸   XM_047432591
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288543   ⟸   XM_047432587
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288551   ⟸   XM_047432595
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047288546   ⟸   XM_047432590
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047288542   ⟸   XM_047432586
- Peptide Label: isoform X4
- UniProtKB: Q92859 (UniProtKB/Swiss-Prot),   O00340 (UniProtKB/Swiss-Prot),   B7ZKN0 (UniProtKB/Swiss-Prot),   B7ZKM9 (UniProtKB/Swiss-Prot),   Q17RX1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047288549   ⟸   XM_047432593
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047288552   ⟸   XM_047432596
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047288545   ⟸   XM_047432589
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047288554   ⟸   XM_047432598
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047288548   ⟸   XM_047432592
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047288556   ⟸   XM_047432600
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047288555   ⟸   XM_047432599
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047288550   ⟸   XM_047432594
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047288553   ⟸   XM_047432597
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047288557   ⟸   XM_047432601
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054234022   ⟸   XM_054378047
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054234005   ⟸   XM_054378030
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054234015   ⟸   XM_054378040
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054234025   ⟸   XM_054378050
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054234019   ⟸   XM_054378044
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054234001   ⟸   XM_054378026
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234012   ⟸   XM_054378037
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054234002   ⟸   XM_054378027
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234014   ⟸   XM_054378039
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054234007   ⟸   XM_054378032
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054234023   ⟸   XM_054378048
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054234003   ⟸   XM_054378028
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054234016   ⟸   XM_054378041
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054234020   ⟸   XM_054378045
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054234011   ⟸   XM_054378036
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054234004   ⟸   XM_054378029
- Peptide Label: isoform X4
- UniProtKB: Q92859 (UniProtKB/Swiss-Prot),   O00340 (UniProtKB/Swiss-Prot),   B7ZKN0 (UniProtKB/Swiss-Prot),   B7ZKM9 (UniProtKB/Swiss-Prot),   Q17RX1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054234018   ⟸   XM_054378043
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054234021   ⟸   XM_054378046
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054234008   ⟸   XM_054378033
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054234010   ⟸   XM_054378035
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054234024   ⟸   XM_054378049
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054234017   ⟸   XM_054378042
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054234026   ⟸   XM_054378051
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054234013   ⟸   XM_054378038
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054234027   ⟸   XM_054378052
- Peptide Label: isoform X21
RefSeq Acc Id: NP_001406460   ⟸   NM_001419531
- Peptide Label: isoform 4 precursor
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92859-F1-model_v2 AlphaFold Q92859 1-1461 view protein structure

Promoters
RGD ID:6792477
Promoter ID:HG_KWN:21859
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000379842,   NM_001172623,   NM_001172624,   NM_002499
Position:
Human AssemblyChrPosition (strand)Source
Build 361571,131,256 - 71,132,137 (+)MPROMDB
RGD ID:7230027
Promoter ID:EPDNEW_H20759
Type:initiation region
Name:NEO1_2
Description:neogenin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20760  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,051,679 - 73,051,739EPDNEW
RGD ID:7230029
Promoter ID:EPDNEW_H20760
Type:initiation region
Name:NEO1_1
Description:neogenin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20759  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,052,493 - 73,052,553EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7754 AgrOrtholog
COSMIC NEO1 COSMIC
Ensembl Genes ENSG00000067141 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261908 ENTREZGENE
  ENST00000261908.11 UniProtKB/Swiss-Prot
  ENST00000339362 ENTREZGENE
  ENST00000339362.9 UniProtKB/Swiss-Prot
  ENST00000558964 ENTREZGENE
  ENST00000558964.5 UniProtKB/Swiss-Prot
  ENST00000560262 ENTREZGENE
  ENST00000560262.5 UniProtKB/Swiss-Prot
  ENST00000560328.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067141 GTEx
HGNC ID HGNC:7754 ENTREZGENE
Human Proteome Map NEO1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neogenin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4756 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4756 ENTREZGENE
OMIM 601907 OMIM
PANTHER PROTEIN SIDEKICK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR44170:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_2 UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot
  Neogenin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31555 PharmGKB
PRINTS FNTYPEIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZKM9 ENTREZGENE
  B7ZKN0 ENTREZGENE
  NEO1_HUMAN UniProtKB/Swiss-Prot
  O00340 ENTREZGENE
  Q17RX1 ENTREZGENE
  Q59FP8_HUMAN UniProtKB/TrEMBL
  Q92859 ENTREZGENE
UniProt Secondary B7ZKM9 UniProtKB/Swiss-Prot
  B7ZKN0 UniProtKB/Swiss-Prot
  H0YNI3 UniProtKB/TrEMBL
  O00340 UniProtKB/Swiss-Prot
  Q17RX1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 NEO1  neogenin 1  NEO1  neogenin homolog 1 (chicken)  Symbol and/or name change 5135510 APPROVED