SEPTIN14 (septin 14) - Rat Genome Database

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Gene: SEPTIN14 (septin 14) Homo sapiens
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Symbol: SEPTIN14
Name: septin 14
RGD ID: 1602813
HGNC Page HGNC:33280
Description: Predicted to enable GTPase activity and molecular adaptor activity. Involved in protein localization to perinuclear region of cytoplasm and spermatid development. Located in acrosomal vesicle and cytoskeleton. Implicated in Parkinson's disease.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ44060; SEPT14; septin-14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SEPTIN14P1   SEPTIN14P10   SEPTIN14P11   SEPTIN14P12   SEPTIN14P13   SEPTIN14P14   SEPTIN14P15   SEPTIN14P16   SEPTIN14P17   SEPTIN14P18   SEPTIN14P19   SEPTIN14P2   SEPTIN14P20   SEPTIN14P21   SEPTIN14P22   SEPTIN14P23   SEPTIN14P24   SEPTIN14P3   SEPTIN14P4   SEPTIN14P5   SEPTIN14P6   SEPTIN14P7   SEPTIN14P8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38755,793,540 - 55,862,752 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl755,793,540 - 55,862,755 (-)EnsemblGRCh38hg38GRCh38
GRCh37755,861,233 - 55,930,445 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36755,828,731 - 55,897,976 (-)NCBINCBI36Build 36hg18NCBI36
Celera766,914,266 - 66,984,265 (-)NCBICelera
Cytogenetic Map7p11.2NCBI
HuRef755,675,705 - 55,745,405 (-)NCBIHuRef
CHM1_1755,864,224 - 55,933,433 (-)NCBICHM1_1
T2T-CHM13v2.0755,953,761 - 56,022,991 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2755,865,484 - 55,934,729 (-)NCBI
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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain. Rozenkrantz L, etal., J Mol Neurosci. 2016 Jul;59(3):343-50. doi: 10.1007/s12031-016-0738-3. Epub 2016 Apr 26.
Additional References at PubMed
PMID:16344560   PMID:17922164   PMID:21873635   PMID:24939585   PMID:26186194   PMID:28514442   PMID:30997501   PMID:31450874   PMID:31586073   PMID:32249155   PMID:32296183   PMID:33228246  
PMID:33961781   PMID:34189442   PMID:36597993   PMID:37712436   PMID:38334954   PMID:39358380  


Genomics

Comparative Map Data
SEPTIN14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38755,793,540 - 55,862,752 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl755,793,540 - 55,862,755 (-)EnsemblGRCh38hg38GRCh38
GRCh37755,861,233 - 55,930,445 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36755,828,731 - 55,897,976 (-)NCBINCBI36Build 36hg18NCBI36
Celera766,914,266 - 66,984,265 (-)NCBICelera
Cytogenetic Map7p11.2NCBI
HuRef755,675,705 - 55,745,405 (-)NCBIHuRef
CHM1_1755,864,224 - 55,933,433 (-)NCBICHM1_1
T2T-CHM13v2.0755,953,761 - 56,022,991 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2755,865,484 - 55,934,729 (-)NCBI
Septin14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395129,760,455 - 129,782,048 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5129,760,455 - 129,785,576 (-)EnsemblGRCm39 Ensembl
GRCm385129,683,391 - 129,704,984 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5129,683,391 - 129,708,512 (-)EnsemblGRCm38mm10GRCm38
MGSCv375130,189,266 - 130,214,386 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365129,998,198 - 130,013,946 (-)NCBIMGSCv36mm8
Celera5126,726,340 - 126,750,968 (-)NCBICelera
Cytogenetic Map5G1.3NCBI
cM Map568.24NCBI
Septin14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81232,610,600 - 32,641,391 (+)NCBIGRCr8
mRatBN7.21226,975,283 - 27,005,588 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1226,975,344 - 26,998,299 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1228,110,818 - 28,134,146 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01228,721,368 - 28,744,696 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01227,782,847 - 27,806,175 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01230,600,162 - 30,623,173 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1230,600,957 - 30,621,079 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01232,537,454 - 32,566,343 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,876,195 - 27,894,644 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1228,682,649 - 28,700,497 (+)NCBICelera
Cytogenetic Map12q13NCBI
Septin14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554568,066,832 - 8,103,049 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554568,066,570 - 8,102,318 (-)NCBIChiLan1.0ChiLan1.0
SEPTIN14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2660,635,115 - 60,707,848 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17108,959,841 - 109,032,574 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0756,395,962 - 56,467,826 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1756,823,512 - 56,890,798 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl756,830,212 - 56,890,798 (-)Ensemblpanpan1.1panPan2
SEPTIN14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11825,103,092 - 25,201,880 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1825,121,175 - 25,202,140 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1824,799,738 - 24,840,011 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01825,579,561 - 25,660,845 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1825,565,895 - 25,660,838 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11825,226,986 - 25,308,190 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01824,739,937 - 24,821,181 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01825,410,330 - 25,491,801 (+)NCBIUU_Cfam_GSD_1.0
Septin14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,995,869 - 126,039,120 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365438,002,291 - 8,033,877 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365437,998,207 - 8,033,877 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPTIN14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl316,991,002 - 17,026,949 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1316,988,590 - 17,026,258 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,280,895 - 17,317,491 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEPTIN14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1212,920,114 - 2,989,257 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041180,133,489 - 180,205,055 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Septin14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247408,085,384 - 8,134,973 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247408,086,964 - 8,138,550 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEPTIN14
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1 copy number loss See cases [RCV000052656] Chr7:52114454..57434735 [GRCh38]
Chr7:52182150..57493216 [GRCh37]
Chr7:52149644..57498383 [NCBI36]
Chr7:7p12.1-11.2		 uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3 copy number gain See cases [RCV000053439] Chr7:52192528..57823293 [GRCh38]
Chr7:52260224..57882999 [GRCh37]
Chr7:52227718..57886941 [NCBI36]
Chr7:7p12.1-11.2		 uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3 copy number gain See cases [RCV000053440] Chr7:53450330..56107195 [GRCh38]
Chr7:53518023..56174888 [GRCh37]
Chr7:53485517..56142382 [NCBI36]
Chr7:7p12.1-11.2		 uncertain significance
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 copy number gain See cases [RCV000053534] Chr7:53274059..68576213 [GRCh38]
Chr7:53341752..68041200 [GRCh37]
Chr7:53309246..67679136 [NCBI36]
Chr7:7p12.1-q11.22		 pathogenic
NM_207366.2(SEPT14):c.442C>T (p.Arg148Cys) single nucleotide variant Malignant melanoma [RCV000067914] Chr7:55843058 [GRCh38]
Chr7:55910751 [GRCh37]
Chr7:55878245 [NCBI36]
Chr7:7p11.2		 not provided
NM_207366.2(SEPT14):c.1120-3959A>G single nucleotide variant Lung cancer [RCV000106159] Chr7:55800051 [GRCh38]
Chr7:55867744 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.2(SEPT14):c.818-1618T>C single nucleotide variant Lung cancer [RCV000106160] Chr7:55808876 [GRCh38]
Chr7:55876569 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1 copy number loss See cases [RCV000134962] Chr7:55805157..56107195 [GRCh38]
Chr7:55872850..56174888 [GRCh37]
Chr7:55840344..56142382 [NCBI36]
Chr7:7p11.2		 uncertain significance
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p11.2(chr7:55847801-55863945)x3 copy number gain See cases [RCV000140278] Chr7:55847801..55863945 [GRCh38]
Chr7:55915494..55931638 [GRCh37]
Chr7:55882988..55899132 [NCBI36]
Chr7:7p11.2		 likely benign
GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3 copy number gain See cases [RCV000141605] Chr7:55538414..56107195 [GRCh38]
Chr7:55606107..56174888 [GRCh37]
Chr7:55573601..56142382 [NCBI36]
Chr7:7p11.2		 uncertain significance
GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1 copy number loss See cases [RCV000142545] Chr7:55733060..56107195 [GRCh38]
Chr7:55800753..56174888 [GRCh37]
Chr7:55768247..56142382 [NCBI36]
Chr7:7p11.2		 benign
GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1 copy number loss See cases [RCV000239822] Chr7:55874737..56172217 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.599C>T (p.Ser200Phe) single nucleotide variant not provided [RCV000487745] Chr7:55834546 [GRCh38]
Chr7:55902239 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.242A>G (p.Lys81Arg) single nucleotide variant not provided [RCV000488149] Chr7:55844652 [GRCh38]
Chr7:55912345 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3 copy number gain See cases [RCV000598887] Chr7:55848150..56344705 [GRCh37]
Chr7:7p11.2		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p11.2(chr7:55874737-56172165)x3 copy number gain See cases [RCV000447572] Chr7:55874737..56172165 [GRCh37]
Chr7:7p11.2		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1 copy number loss See cases [RCV000445658] Chr7:54972516..56172165 [GRCh37]
Chr7:7p11.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_207366.3(SEPTIN14):c.19G>A (p.Ala7Thr) single nucleotide variant not specified [RCV004314032] Chr7:55861978 [GRCh38]
Chr7:55929671 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1 copy number loss See cases [RCV000512175] Chr7:55550741..56945077 [GRCh37]
Chr7:7p11.2		 likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
Single allele duplication Autism [RCV000754332] Chr7:52551984..56315037 [GRCh38]
Chr7:7p12.1-11.2		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_207366.3(SEPTIN14):c.4G>A (p.Ala2Thr) single nucleotide variant not provided [RCV000968608] Chr7:55861993 [GRCh38]
Chr7:55929686 [GRCh37]
Chr7:7p11.2		 benign
NM_207366.3(SEPTIN14):c.10A>G (p.Arg4Gly) single nucleotide variant not provided [RCV000899679] Chr7:55861987 [GRCh38]
Chr7:55929680 [GRCh37]
Chr7:7p11.2		 benign
NM_207366.3(SEPTIN14):c.180G>A (p.Glu60=) single nucleotide variant not provided [RCV000965751] Chr7:55844714 [GRCh38]
Chr7:55912407 [GRCh37]
Chr7:7p11.2		 benign
NM_207366.3(SEPTIN14):c.418C>A (p.Leu140Ile) single nucleotide variant not provided [RCV000902227] Chr7:55843082 [GRCh38]
Chr7:55910775 [GRCh37]
Chr7:7p11.2		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_207366.3(SEPTIN14):c.443G>A (p.Arg148His) single nucleotide variant not specified [RCV004297018] Chr7:55843057 [GRCh38]
Chr7:55910750 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1 copy number loss not provided [RCV000846150] Chr7:52809787..58025873 [GRCh37]
Chr7:7p12.1-11.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3 copy number gain not provided [RCV001834289] Chr7:55776531..56393852 [GRCh37]
Chr7:7p11.2		 likely benign
GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3 copy number gain not provided [RCV001834233] Chr7:55757106..56489653 [GRCh37]
Chr7:7p11.2		 likely benign
NM_207366.3(SEPTIN14):c.766G>A (p.Val256Ile) single nucleotide variant not specified [RCV004301772] Chr7:55819178 [GRCh38]
Chr7:55886871 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_207366.3(SEPTIN14):c.347G>C (p.Gly116Ala) single nucleotide variant not specified [RCV004311988] Chr7:55844547 [GRCh38]
Chr7:55912240 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3 copy number gain not provided [RCV002475815] Chr7:53991820..56148011 [GRCh37]
Chr7:7p12.1-11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.244T>A (p.Ser82Thr) single nucleotide variant not specified [RCV004323612] Chr7:55844650 [GRCh38]
Chr7:55912343 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1267G>A (p.Asp423Asn) single nucleotide variant not specified [RCV004273992] Chr7:55795945 [GRCh38]
Chr7:55863638 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1076G>A (p.Arg359Gln) single nucleotide variant not specified [RCV004263468] Chr7:55805301 [GRCh38]
Chr7:55872994 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1040G>A (p.Arg347Lys) single nucleotide variant not specified [RCV004287392] Chr7:55805337 [GRCh38]
Chr7:55873030 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.536C>T (p.Thr179Ile) single nucleotide variant not specified [RCV004316318] Chr7:55842964 [GRCh38]
Chr7:55910657 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3 copy number gain not provided [RCV003484683] Chr7:55498635..58025873 [GRCh37]
Chr7:7p11.2-11.1		 uncertain significance
NM_207366.3(SEPTIN14):c.1194A>T (p.Gln398His) single nucleotide variant not specified [RCV004452997] Chr7:55796018 [GRCh38]
Chr7:55863711 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.265G>A (p.Val89Ile) single nucleotide variant not specified [RCV004453005] Chr7:55844629 [GRCh38]
Chr7:55912322 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.847A>G (p.Lys283Glu) single nucleotide variant not specified [RCV004453017] Chr7:55807229 [GRCh38]
Chr7:55874922 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.854G>A (p.Arg285Gln) single nucleotide variant not specified [RCV004453018] Chr7:55807222 [GRCh38]
Chr7:55874915 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.860T>C (p.Met287Thr) single nucleotide variant not specified [RCV004453019] Chr7:55807216 [GRCh38]
Chr7:55874909 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.86C>T (p.Thr29Met) single nucleotide variant not specified [RCV004453020] Chr7:55846606 [GRCh38]
Chr7:55914299 [GRCh37]
Chr7:7p11.2		 likely benign
NM_207366.3(SEPTIN14):c.1199A>T (p.Glu400Val) single nucleotide variant not specified [RCV004452998] Chr7:55796013 [GRCh38]
Chr7:55863706 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.11G>A (p.Arg4Lys) single nucleotide variant not specified [RCV004452999] Chr7:55861986 [GRCh38]
Chr7:55929679 [GRCh37]
Chr7:7p11.2		 likely benign
NM_207366.3(SEPTIN14):c.668A>G (p.Tyr223Cys) single nucleotide variant not specified [RCV004453013] Chr7:55834477 [GRCh38]
Chr7:55902170 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.796T>C (p.Tyr266His) single nucleotide variant not specified [RCV004453016] Chr7:55819148 [GRCh38]
Chr7:55886841 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1269T>A (p.Asp423Glu) single nucleotide variant not specified [RCV004453000] Chr7:55795943 [GRCh38]
Chr7:55863636 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.152T>A (p.Phe51Tyr) single nucleotide variant not specified [RCV004453002] Chr7:55846540 [GRCh38]
Chr7:55914233 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.388G>C (p.Asp130His) single nucleotide variant not specified [RCV004453008] Chr7:55843112 [GRCh38]
Chr7:55910805 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.469C>T (p.Arg157Cys) single nucleotide variant not specified [RCV004453010] Chr7:55843031 [GRCh38]
Chr7:55910724 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.595A>G (p.Ile199Val) single nucleotide variant not specified [RCV004453012] Chr7:55834550 [GRCh38]
Chr7:55902243 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.410A>G (p.Glu137Gly) single nucleotide variant not specified [RCV004453009] Chr7:55843090 [GRCh38]
Chr7:55910783 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.733T>C (p.Phe245Leu) single nucleotide variant not specified [RCV004453014] Chr7:55819211 [GRCh38]
Chr7:55886904 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1112A>C (p.Glu371Ala) single nucleotide variant not specified [RCV004452994] Chr7:55805265 [GRCh38]
Chr7:55872958 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.205A>T (p.Ile69Leu) single nucleotide variant not specified [RCV004453003] Chr7:55844689 [GRCh38]
Chr7:55912382 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.278T>C (p.Ile93Thr) single nucleotide variant not specified [RCV004453006] Chr7:55844616 [GRCh38]
Chr7:55912309 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.284C>G (p.Thr95Arg) single nucleotide variant not specified [RCV004453007] Chr7:55844610 [GRCh38]
Chr7:55912303 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.527A>T (p.Asp176Val) single nucleotide variant not specified [RCV004453011] Chr7:55842973 [GRCh38]
Chr7:55910666 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.790C>T (p.Arg264Cys) single nucleotide variant not specified [RCV004453015] Chr7:55819154 [GRCh38]
Chr7:55886847 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1025A>G (p.Tyr342Cys) single nucleotide variant not specified [RCV004452993] Chr7:55805352 [GRCh38]
Chr7:55873045 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.224C>G (p.Thr75Ser) single nucleotide variant not specified [RCV004453004] Chr7:55844670 [GRCh38]
Chr7:55912363 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1135G>A (p.Glu379Lys) single nucleotide variant not specified [RCV004452995] Chr7:55796077 [GRCh38]
Chr7:55863770 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1153C>G (p.Gln385Glu) single nucleotide variant not specified [RCV004452996] Chr7:55796059 [GRCh38]
Chr7:55863752 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.991C>A (p.Gln331Lys) single nucleotide variant not specified [RCV004453021] Chr7:55805386 [GRCh38]
Chr7:55873079 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.338T>C (p.Val113Ala) single nucleotide variant not specified [RCV004663922] Chr7:55844556 [GRCh38]
Chr7:55912249 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.331G>A (p.Glu111Lys) single nucleotide variant not specified [RCV004663921] Chr7:55844563 [GRCh38]
Chr7:55912256 [GRCh37]
Chr7:7p11.2		 likely benign
NM_207366.3(SEPTIN14):c.666A>G (p.Ile222Met) single nucleotide variant not specified [RCV004864033] Chr7:55834479 [GRCh38]
Chr7:55902172 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.662A>G (p.Gln221Arg) single nucleotide variant not specified [RCV004864030] Chr7:55834483 [GRCh38]
Chr7:55902176 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.472G>A (p.Val158Ile) single nucleotide variant not specified [RCV004864031] Chr7:55843028 [GRCh38]
Chr7:55910721 [GRCh37]
Chr7:7p11.2		 likely benign
NM_207366.3(SEPTIN14):c.523C>T (p.Leu175Phe) single nucleotide variant not specified [RCV004864032] Chr7:55842977 [GRCh38]
Chr7:55910670 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_207366.3(SEPTIN14):c.1001T>C (p.Phe334Ser) single nucleotide variant not specified [RCV004864034] Chr7:55805376 [GRCh38]
Chr7:55873069 [GRCh37]
Chr7:7p11.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:875
Count of miRNA genes:561
Interacting mature miRNAs:623
Transcripts:ENST00000388975, ENST00000477628
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
597144213GWAS1240287_Hserum alanine aminotransferase measurement QTL GWAS1240287 (human)2e-13serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)75584914455849145Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
597144396GWAS1240470_Haspartate aminotransferase measurement QTL GWAS1240470 (human)3e-09aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)75584914455849145Human
406957148GWAS606124_Hage-related hearing impairment QTL GWAS606124 (human)0.000008age-related hearing impairment75585463055854631Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human
597119048GWAS1215122_Happendicular lean mass QTL GWAS1215122 (human)2e-16appendicular lean mass75583375455833755Human

Markers in Region
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
288 763 678 532 2197 729 933 4 153 556 111 783 1980 1684 52 1704 291 1099 720 54

Sequence


Ensembl Acc Id: ENST00000388975   ⟹   ENSP00000373627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl755,793,540 - 55,862,752 (-)Ensembl
Ensembl Acc Id: ENST00000477628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl755,844,537 - 55,862,755 (-)Ensembl
RefSeq Acc Id: NM_207366   ⟹   NP_997249
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38755,793,540 - 55,862,752 (-)NCBI
GRCh37755,861,237 - 55,930,482 (-)RGD
Build 36755,828,731 - 55,897,976 (-)NCBI Archive
Celera766,914,266 - 66,984,265 (-)RGD
HuRef755,675,705 - 55,745,405 (-)RGD
CHM1_1755,864,224 - 55,933,433 (-)NCBI
T2T-CHM13v2.0755,953,761 - 56,022,991 (-)NCBI
CRA_TCAGchr7v2755,865,484 - 55,934,729 (-)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_997249 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAC86412 (Get FASTA)   NCBI Sequence Viewer  
  BAG63348 (Get FASTA)   NCBI Sequence Viewer  
  EAX07958 (Get FASTA)   NCBI Sequence Viewer  
  EAX07959 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000373627
  ENSP00000373627.3
GenBank Protein Q6ZU15 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_997249   ⟸   NM_207366
- UniProtKB: A6NCC2 (UniProtKB/Swiss-Prot),   B4DXD6 (UniProtKB/Swiss-Prot),   Q6ZU15 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000373627   ⟸   ENST00000388975
Protein Domains
Septin-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZU15-F1-model_v2 AlphaFold Q6ZU15 1-432 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33280 AgrOrtholog
COSMIC SEPTIN14 COSMIC
Ensembl Genes ENSG00000154997 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000388975 ENTREZGENE
  ENST00000388975.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000154997 GTEx
HGNC ID HGNC:33280 ENTREZGENE
Human Proteome Map SEPTIN14 Human Proteome Map
InterPro G_SEPTIN_dom UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  Septin UniProtKB/Swiss-Prot
KEGG Report hsa:346288 UniProtKB/Swiss-Prot
NCBI Gene 346288 ENTREZGENE
OMIM 612140 OMIM
PANTHER SEPTIN UniProtKB/Swiss-Prot
Pfam Septin UniProtKB/Swiss-Prot
PharmGKB PA162402917 PharmGKB
PIRSF Septin UniProtKB/Swiss-Prot
PROSITE G_SEPTIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt A6NCC2 ENTREZGENE
  B4DXD6 ENTREZGENE
  Q6ZU15 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NCC2 UniProtKB/Swiss-Prot
  B4DXD6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 SEPTIN14  septin 14  SEPT14  septin 14  Symbol and/or name change 5135510 APPROVED