ANKFN1 (ankyrin repeat and fibronectin type III domain containing 1) - Rat Genome Database

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Gene: ANKFN1 (ankyrin repeat and fibronectin type III domain containing 1) Homo sapiens
Analyze
Symbol: ANKFN1
Name: ankyrin repeat and fibronectin type III domain containing 1
RGD ID: 1604222
HGNC Page HGNC:26766
Description: Predicted to be involved in establishment of mitotic spindle orientation and regulation of establishment of bipolar cell polarity. Predicted to act upstream of or within behavioral fear response; equilibrioception; and locomotor rhythm. Predicted to be active in spindle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ankyrin repeat and fibronectin type-III domain-containing protein 1; ankyrin-repeat and fibronectin type III domain containing 1; FLJ38335; WAKE
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
GRCh381756,046,077 - 56,517,016 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1755,882,301 - 56,517,016 (+)EnsemblGRCh38hg38GRCh38
GRCh371754,230,836 - 54,594,377 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361751,585,835 - 51,915,006 (+)NCBINCBI36Build 36hg18NCBI36
Celera1750,692,552 - 51,021,724 (+)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1749,590,661 - 49,920,823 (+)NCBIHuRef
CHM1_11754,295,756 - 54,624,936 (+)NCBICHM1_1
T2T-CHM13v2.01756,922,200 - 57,393,142 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
spindle  (IBA)

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
Additional References at PubMed
PMID:14702039   PMID:18391950   PMID:20379614   PMID:21668797   PMID:21873635   PMID:23936387   PMID:28005267   PMID:35100349  


Genomics

Comparative Map Data
ANKFN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381756,046,077 - 56,517,016 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1755,882,301 - 56,517,016 (+)EnsemblGRCh38hg38GRCh38
GRCh371754,230,836 - 54,594,377 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361751,585,835 - 51,915,006 (+)NCBINCBI36Build 36hg18NCBI36
Celera1750,692,552 - 51,021,724 (+)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1749,590,661 - 49,920,823 (+)NCBIHuRef
CHM1_11754,295,756 - 54,624,936 (+)NCBICHM1_1
T2T-CHM13v2.01756,922,200 - 57,393,142 (+)NCBIT2T-CHM13v2.0
Ankfn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391189,280,918 - 89,668,727 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1189,281,049 - 89,732,092 (-)EnsemblGRCm39 Ensembl
GRCm381189,390,092 - 89,777,901 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1189,390,223 - 89,841,266 (-)EnsemblGRCm38mm10GRCm38
MGSCv371189,282,400 - 89,402,034 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361189,237,176 - 89,356,810 (-)NCBIMGSCv36mm8
Celera1199,044,016 - 99,164,076 (-)NCBICelera
Cytogenetic Map11CNCBI
cM Map1154.34NCBI
Ankfn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81074,711,284 - 75,099,954 (-)NCBIGRCr8
mRatBN7.21074,214,143 - 74,602,825 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1074,218,915 - 74,663,295 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01076,901,681 - 77,210,042 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1076,903,325 - 76,930,631 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01076,824,370 - 77,071,775 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1073,119,235 - 73,424,418 (-)NCBICelera
Cytogenetic Map10q26NCBI
Ankfn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554516,305,394 - 6,571,389 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554516,269,168 - 6,656,763 (-)NCBIChiLan1.0ChiLan1.0
ANKFN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21972,328,266 - 72,688,260 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11777,138,454 - 77,498,548 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01750,232,065 - 50,592,044 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11755,095,480 - 55,420,599 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1755,166,165 - 55,449,215 (+)Ensemblpanpan1.1panPan2
ANKFN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1931,093,638 - 31,364,315 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl931,055,348 - 31,386,790 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha930,334,298 - 30,626,943 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0931,901,572 - 32,194,395 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl931,762,089 - 32,194,395 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1930,687,635 - 30,979,993 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0930,971,338 - 31,263,802 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0931,054,421 - 31,347,435 (+)NCBIUU_Cfam_GSD_1.0
Ankfn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560230,361,202 - 30,739,656 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364906,371,204 - 6,632,690 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364906,341,849 - 6,494,377 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKFN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1232,321,340 - 32,821,340 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11232,479,469 - 32,823,527 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21233,326,444 - 33,635,120 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANKFN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11636,928,574 - 37,422,278 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1636,929,938 - 37,223,997 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660777,724,684 - 7,994,399 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ankfn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479511,447,941 - 11,617,312 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKFN1
82 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
NM_153228.2(ANKFN1):c.62+29866G>A single nucleotide variant Lung cancer [RCV000100561] Chr17:56257823 [GRCh38]
Chr17:54335184 [GRCh37]
Chr17:17q22		 uncertain significance
NM_153228.2(ANKFN1):c.919+26171A>G single nucleotide variant Lung cancer [RCV000100562] Chr17:56400885 [GRCh38]
Chr17:54478246 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NC_000017.11:g.55975766T>C single nucleotide variant Lung cancer [RCV000100558] Chr17:55975766 [GRCh38]
Chr17:54053127 [GRCh37]
Chr17:17q22		 uncertain significance
NC_000017.11:g.56064776G>C single nucleotide variant Lung cancer [RCV000100559] Chr17:56064776 [GRCh38]
Chr17:54142137 [GRCh37]
Chr17:17q22		 uncertain significance
NC_000017.11:g.56127103A>T single nucleotide variant Lung cancer [RCV000100560] Chr17:56127103 [GRCh38]
Chr17:54204464 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17q22(chr17:52189051-57477162)x3 copy number gain See cases [RCV000448801] Chr17:52189051..57477162 [GRCh37]
Chr17:17q22		 pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001370326.1(ANKFN1):c.373C>T (p.Leu125Phe) single nucleotide variant not specified [RCV004307789] Chr17:56350950 [GRCh38]
Chr17:54428311 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.663G>T (p.Arg221Ser) single nucleotide variant not specified [RCV004317079] Chr17:56372707 [GRCh38]
Chr17:54450068 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.257C>T (p.Ala86Val) single nucleotide variant not specified [RCV004324975] Chr17:56350834 [GRCh38]
Chr17:54428195 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q22(chr17:53309576-54333707)x1 copy number loss not provided [RCV000683943] Chr17:53309576..54333707 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001370326.1(ANKFN1):c.1528A>C (p.Lys510Gln) single nucleotide variant not specified [RCV004298344] Chr17:56457950 [GRCh38]
Chr17:54535311 [GRCh37]
Chr17:17q22		 uncertain significance
Single allele deletion Stapes ankylosis with broad thumbs and toes [RCV001268958] Chr17:54290100..54844894 [GRCh37]
Chr17:17q22		 pathogenic
Single allele deletion Large for gestational age [RCV000161823]|Normal pregnancy [RCV000161822]|Preeclampsia [RCV000161824] Chr17:56083104..56094916 [GRCh38]
Chr17:54160465..54172277 [GRCh37]
Chr17:17q22		 not provided
NM_001370326.1(ANKFN1):c.58G>A (p.Gly20Arg) single nucleotide variant not specified [RCV004603410] Chr17:56326225 [GRCh38]
Chr17:54403586 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1571C>T (p.Thr524Ile) single nucleotide variant not specified [RCV004193834] Chr17:56466369 [GRCh38]
Chr17:54543730 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1131A>T (p.Arg377Ser) single nucleotide variant not specified [RCV004164655] Chr17:56449110 [GRCh38]
Chr17:54526471 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1990A>G (p.Ser664Gly) single nucleotide variant not specified [RCV004142204] Chr17:56480717 [GRCh38]
Chr17:54558078 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.526G>A (p.Asp176Asn) single nucleotide variant not specified [RCV004104408] Chr17:56353971 [GRCh38]
Chr17:54431332 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.283C>T (p.Arg95Cys) single nucleotide variant not specified [RCV004210255] Chr17:56350860 [GRCh38]
Chr17:54428221 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.637A>G (p.Thr213Ala) single nucleotide variant not specified [RCV004148141] Chr17:56372681 [GRCh38]
Chr17:54450042 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1234C>A (p.Arg412Ser) single nucleotide variant not specified [RCV004233031] Chr17:56456887 [GRCh38]
Chr17:54534248 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.2077A>G (p.Ile693Val) single nucleotide variant not specified [RCV004082832] Chr17:56480804 [GRCh38]
Chr17:54558165 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.489C>G (p.Asp163Glu) single nucleotide variant not specified [RCV004071478] Chr17:56353934 [GRCh38]
Chr17:54431295 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1036G>T (p.Ala346Ser) single nucleotide variant not specified [RCV004093452] Chr17:56442870 [GRCh38]
Chr17:54520231 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.358A>G (p.Thr120Ala) single nucleotide variant not specified [RCV004087858] Chr17:56350935 [GRCh38]
Chr17:54428296 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.-88G>C single nucleotide variant not specified [RCV004105125] Chr17:56153513 [GRCh38]
Chr17:54230874 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.2045T>C (p.Met682Thr) single nucleotide variant not specified [RCV004150047] Chr17:56480772 [GRCh38]
Chr17:54558133 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.66A>T (p.Arg22Ser) single nucleotide variant not specified [RCV004171925] Chr17:56326233 [GRCh38]
Chr17:54403594 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.250C>T (p.His84Tyr) single nucleotide variant not specified [RCV004250671] Chr17:56350827 [GRCh38]
Chr17:54428188 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.659A>G (p.Glu220Gly) single nucleotide variant not specified [RCV004287232] Chr17:56372703 [GRCh38]
Chr17:54450064 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.2133G>C (p.Met711Ile) single nucleotide variant not specified [RCV004278599] Chr17:56482397 [GRCh38]
Chr17:54559758 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1235G>A (p.Arg412His) single nucleotide variant not specified [RCV004259938] Chr17:56456888 [GRCh38]
Chr17:54534249 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.800C>T (p.Ala267Val) single nucleotide variant not specified [RCV004362327] Chr17:56374604 [GRCh38]
Chr17:54451965 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17q22(chr17:54532139-54595798)x1 copy number loss not provided [RCV003483320] Chr17:54532139..54595798 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.2342C>A (p.Thr781Asn) single nucleotide variant not provided [RCV003413278] Chr17:56492268 [GRCh38]
Chr17:54569629 [GRCh37]
Chr17:17q22		 likely benign
NM_001370326.1(ANKFN1):c.1073C>T (p.Thr358Met) single nucleotide variant not specified [RCV004415476] Chr17:56442907 [GRCh38]
Chr17:54520268 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.823T>A (p.Cys275Ser) single nucleotide variant not specified [RCV004415578] Chr17:56374627 [GRCh38]
Chr17:54451988 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1193A>G (p.His398Arg) single nucleotide variant not specified [RCV004415487] Chr17:56449172 [GRCh38]
Chr17:54526533 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.329C>A (p.Ser110Tyr) single nucleotide variant not specified [RCV004415543] Chr17:56350906 [GRCh38]
Chr17:54428267 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.92G>A (p.Ser31Asn) single nucleotide variant not specified [RCV004415470] Chr17:56326259 [GRCh38]
Chr17:54403620 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1079C>T (p.Pro360Leu) single nucleotide variant not specified [RCV004415480] Chr17:56442913 [GRCh38]
Chr17:54520274 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.142C>A (p.Gln48Lys) single nucleotide variant not specified [RCV004415498] Chr17:56326309 [GRCh38]
Chr17:54403670 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1808G>A (p.Arg603His) single nucleotide variant not specified [RCV004415506] Chr17:56477522 [GRCh38]
Chr17:54554883 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.695A>C (p.Glu232Ala) single nucleotide variant not specified [RCV004415570] Chr17:56372739 [GRCh38]
Chr17:54450100 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1196A>G (p.Tyr399Cys) single nucleotide variant not specified [RCV004415491] Chr17:56449175 [GRCh38]
Chr17:54526536 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.255T>G (p.Ser85Arg) single nucleotide variant not specified [RCV004415528] Chr17:56350832 [GRCh38]
Chr17:54428193 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.278C>T (p.Ala93Val) single nucleotide variant not specified [RCV004415535] Chr17:56350855 [GRCh38]
Chr17:54428216 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.977C>T (p.Thr326Ile) single nucleotide variant not specified [RCV004415582] Chr17:56440393 [GRCh38]
Chr17:54517754 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.2248A>G (p.Met750Val) single nucleotide variant not specified [RCV004415519] Chr17:56482512 [GRCh38]
Chr17:54559873 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.239A>G (p.Gln80Arg) single nucleotide variant not specified [RCV004415523] Chr17:56350816 [GRCh38]
Chr17:54428177 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1405A>T (p.Ser469Cys) single nucleotide variant not specified [RCV004415497] Chr17:56457354 [GRCh38]
Chr17:54534715 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.305A>C (p.Glu102Ala) single nucleotide variant not specified [RCV004643498] Chr17:56350882 [GRCh38]
Chr17:54428243 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.967A>G (p.Asn323Asp) single nucleotide variant not specified [RCV004643505] Chr17:56440383 [GRCh38]
Chr17:54517744 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1910T>A (p.Val637Glu) single nucleotide variant not specified [RCV004643515] Chr17:56477624 [GRCh38]
Chr17:54554985 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
Single allele deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] Chr17:41231503..41277589 [GRCh37]
Chr17:17q21.31-22		 pathogenic
NM_001370326.1(ANKFN1):c.1234C>T (p.Arg412Cys) single nucleotide variant not specified [RCV004942521] Chr17:56456887 [GRCh38]
Chr17:54534248 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.718G>A (p.Glu240Lys) single nucleotide variant not specified [RCV004942543] Chr17:56372762 [GRCh38]
Chr17:54450123 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.892G>A (p.Val298Ile) single nucleotide variant not specified [RCV004942491] Chr17:56374696 [GRCh38]
Chr17:54452057 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1770C>G (p.Ile590Met) single nucleotide variant not specified [RCV004942492] Chr17:56466568 [GRCh38]
Chr17:54543929 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1024G>A (p.Val342Ile) single nucleotide variant not specified [RCV004942500] Chr17:56442858 [GRCh38]
Chr17:54520219 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1309G>A (p.Gly437Arg) single nucleotide variant not specified [RCV004942510] Chr17:56457258 [GRCh38]
Chr17:54534619 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.1256G>A (p.Ser419Asn) single nucleotide variant not specified [RCV004942532] Chr17:56456909 [GRCh38]
Chr17:54534270 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001370326.1(ANKFN1):c.310C>G (p.Leu104Val) single nucleotide variant not specified [RCV004942545] Chr17:56350887 [GRCh38]
Chr17:54428248 [GRCh37]
Chr17:17q22		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1102
Count of miRNA genes:683
Interacting mature miRNAs:768
Transcripts:ENST00000318698, ENST00000566473, ENST00000572312, ENST00000572321, ENST00000572945, ENST00000573365, ENST00000574292, ENST00000575594
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597608987GWAS1665847_Hnutritional deficiency disease QTL GWAS1665847 (human)3e-11nutritional deficiency disease175642326156423262Human
597226270GWAS1322344_Hheel bone mineral density QTL GWAS1322344 (human)2e-31heel bone mineral densitybone mineral density (CMO:0001226)175611032456110325Human
597226271GWAS1322345_Hheel bone mineral density QTL GWAS1322345 (human)3e-10heel bone mineral densitybone mineral density (CMO:0001226)175642221856422219Human
597213712GWAS1309786_Hnicotine dependence symptom count, depressive symptom measurement QTL GWAS1309786 (human)0.000005nicotine dependence symptom count, depressive symptom measurement175607534356075344Human
407050699GWAS699675_Hcannabis dependence QTL GWAS699675 (human)0.000002cannabis dependence175612599956126000Human
597312018GWAS1408092_Hvaginal microbiome measurement QTL GWAS1408092 (human)0.000003vaginal microbiome measurement175625536456255365Human
407026507GWAS675483_Hserum IgG glycosylation measurement QTL GWAS675483 (human)0.000002serum IgG glycosylation measurement175604661256046613Human
597060639GWAS1156713_Hvital capacity QTL GWAS1156713 (human)8e-20vital capacity175612093656120937Human
407050698GWAS699674_Hcannabis dependence QTL GWAS699674 (human)0.0000006cannabis dependence175620135456201355Human
407050696GWAS699672_Hcannabis dependence QTL GWAS699672 (human)0.0000009cannabis dependence175611516256115163Human
596978073GWAS1097592_Hbody height QTL GWAS1097592 (human)2e-12body height175650525556505256Human
597309443GWAS1405517_Hvaginal microbiome measurement QTL GWAS1405517 (human)0.000004vaginal microbiome measurement175625536456255365Human
407049561GWAS698537_Hsuberic acid measurement QTL GWAS698537 (human)0.000006suberic acid measurement175606803056068031Human
597314433GWAS1410507_Hvaginal microbiome measurement QTL GWAS1410507 (human)0.000008vaginal microbiome measurement175625536456255365Human
597315003GWAS1411077_Hvaginal microbiome measurement QTL GWAS1411077 (human)0.00001vaginal microbiome measurement175625536456255365Human
597315006GWAS1411080_Hvaginal microbiome measurement QTL GWAS1411080 (human)0.000001vaginal microbiome measurement175629617156296172Human
597315007GWAS1411081_Hvaginal microbiome measurement QTL GWAS1411081 (human)0.000001vaginal microbiome measurement175629878356298784Human
597150897GWAS1246971_Hdiffuse idiopathic skeletal hyperostosis QTL GWAS1246971 (human)7e-14diffuse idiopathic skeletal hyperostosis175613680756136808Human
597315004GWAS1411078_Hvaginal microbiome measurement QTL GWAS1411078 (human)0.000003vaginal microbiome measurement175628562456285625Human
597237567GWAS1333641_Hcortical thickness QTL GWAS1333641 (human)5e-10cortical surface area measurement175632462956324630Human
597315005GWAS1411079_Hvaginal microbiome measurement QTL GWAS1411079 (human)0.0000006vaginal microbiome measurement175629527556295276Human
597310896GWAS1406970_Hvaginal microbiome measurement QTL GWAS1406970 (human)0.000002vaginal microbiome measurement175625536456255365Human
597026726GWAS1122800_Hbody mass index QTL GWAS1122800 (human)0.000004body mass indexbody mass index (BMI) (CMO:0000105)175629725056297251Human
597075619GWAS1171693_Hheel bone mineral density QTL GWAS1171693 (human)1e-10heel bone mineral densitybone mineral density (CMO:0001226)175615634156156342Human
407054325GWAS703301_Hvital capacity QTL GWAS703301 (human)1e-18vital capacity175611809256118093Human
596952866GWAS1072385_Hbone density QTL GWAS1072385 (human)8e-10bone density175615634156156342Human
406937207GWAS586183_Hheel bone mineral density QTL GWAS586183 (human)2e-56heel bone mineral densitybone mineral density (CMO:0001226)175619623756196238Human
406937208GWAS586184_Hheel bone mineral density QTL GWAS586184 (human)5e-16heel bone mineral densitybone mineral density (CMO:0001226)175643353456433535Human
406939773GWAS588749_Hheel bone mineral density QTL GWAS588749 (human)2e-12heel bone mineral densitybone mineral density (CMO:0001226)175640311756403118Human
406939772GWAS588748_Hheel bone mineral density QTL GWAS588748 (human)3e-53heel bone mineral densitybone mineral density (CMO:0001226)175619623756196238Human
407026947GWAS675923_Hserum IgG glycosylation measurement QTL GWAS675923 (human)0.0000009serum IgG glycosylation measurement175604661256046613Human
597076819GWAS1172893_Hcoronary artery calcification QTL GWAS1172893 (human)0.000004coronary artery calcification175637928356379284Human
597076187GWAS1172261_Hheel bone mineral density QTL GWAS1172261 (human)2e-13heel bone mineral densitybone mineral density (CMO:0001226)175615634156156342Human
597321175GWAS1417249_Hsmoking initiation QTL GWAS1417249 (human)1e-09smoking initiation175649080256490803Human
597193174GWAS1289248_HSyncope QTL GWAS1289248 (human)6e-26Syncope175611516256115163Human
407060364GWAS709340_Hchronotype measurement QTL GWAS709340 (human)7e-12sleep behavior trait (VT:0001501)175609623856096239Human
597609676GWAS1666536_Hdrug use measurement, multiple sclerosis QTL GWAS1666536 (human)5e-12drug use measurement, multiple sclerosis175639664856396649Human
597232588GWAS1328662_Happendicular lean mass QTL GWAS1328662 (human)2e-19appendicular lean mass175613914656139147Human
407050139GWAS699115_HNG-monomethyl-arginine measurement QTL GWAS699115 (human)0.000003NG-monomethyl-arginine measurement175642942656429427Human
597315008GWAS1411082_Hvaginal microbiome measurement QTL GWAS1411082 (human)0.000002vaginal microbiome measurement175630137156301372Human
597160395GWAS1256469_Hcampesterol measurement QTL GWAS1256469 (human)0.000002brain campesterol amount (VT:0010591)175639418156394182Human
406942368GWAS591344_Hforced expiratory volume QTL GWAS591344 (human)4e-18forced expiratory volumeforced expiratory volume (CMO:0000254)175611809256118093Human
597345147GWAS1441221_Hforced expiratory volume QTL GWAS1441221 (human)3e-21forced expiratory volumeforced expiratory volume (CMO:0000254)175622174056221741Human
597040757GWAS1136831_HHallux valgus QTL GWAS1136831 (human)0.000001Hallux valgus175624791156247912Human
597311871GWAS1407945_Hvaginal microbiome measurement QTL GWAS1407945 (human)0.000009vaginal microbiome measurement175625536456255365Human
597212528GWAS1308602_Hheel bone mineral density QTL GWAS1308602 (human)1e-41heel bone mineral densitybone mineral density (CMO:0001226)175615634156156342Human
597315442GWAS1411516_Hcortical thickness QTL GWAS1411516 (human)6e-11cortical thickness175632491456324915Human
597075452GWAS1171526_Hheel bone mineral density QTL GWAS1171526 (human)1e-24heel bone mineral densitybone mineral density (CMO:0001226)175615634156156342Human
597272565GWAS1368639_Hage of onset of depressive disorder, wellbeing measurement QTL GWAS1368639 (human)0.000004wellness/fitness trait (VT:1000152)175609610256096103Human
596976378GWAS1095897_Hbody height QTL GWAS1095897 (human)1e-10body height175618175256181753Human
597098727GWAS1194801_Hgut microbiome measurement QTL GWAS1194801 (human)0.000004gut microbiome measurement175635279456352795Human
597141990GWAS1238064_Hsmoking initiation QTL GWAS1238064 (human)1e-12smoking initiation175647708956477090Human
597327086GWAS1423160_Hbiliary atresia QTL GWAS1423160 (human)0.000003biliary atresia175631065656310657Human
597141600GWAS1237674_Hneuroimaging measurement QTL GWAS1237674 (human)1e-08neuroimaging measurement175631490656314907Human
597315686GWAS1411760_Hvaginal microbiome measurement QTL GWAS1411760 (human)0.0000002vaginal microbiome measurement175625536456255365Human
597229796GWAS1325870_Hchronotype measurement QTL GWAS1325870 (human)1e-10sleep behavior trait (VT:0001501)175609637256096373Human

Markers in Region
D17S669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,545,007 - 54,545,260UniSTSGRCh37
Build 361751,900,006 - 51,900,259RGDNCBI36
Celera1751,006,752 - 51,006,977RGD
Cytogenetic Map17q22UniSTS
HuRef1749,905,850 - 49,906,075UniSTS
Marshfield Genetic Map1776.18UniSTS
Marshfield Genetic Map1776.18RGD
SHGC-81459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,236,862 - 54,237,145UniSTSGRCh37
Build 361751,591,861 - 51,592,144RGDNCBI36
Celera1750,698,578 - 50,698,861RGD
Cytogenetic Map17q22UniSTS
HuRef1749,596,688 - 49,596,971UniSTS
TNG Radiation Hybrid Map1724962.0UniSTS
RH120224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,393,200 - 54,393,470UniSTSGRCh37
Build 361751,748,199 - 51,748,469RGDNCBI36
Celera1750,854,925 - 50,855,195RGD
Cytogenetic Map17q22UniSTS
HuRef1749,754,367 - 49,754,637UniSTS
TNG Radiation Hybrid Map1725052.0UniSTS
SHGC-108145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,298,751 - 54,299,074UniSTSGRCh37
Build 361751,653,750 - 51,654,073RGDNCBI36
Celera1750,760,475 - 50,760,798RGD
Cytogenetic Map17q22UniSTS
HuRef1749,658,521 - 49,658,844UniSTS
TNG Radiation Hybrid Map1724993.0UniSTS
D17S913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371754,336,238 - 54,336,353UniSTSGRCh37
Build 361751,691,237 - 51,691,352RGDNCBI36
Celera1750,797,962 - 50,798,077RGD
Cytogenetic Map17q22UniSTS
HuRef1749,696,008 - 49,696,123UniSTS


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
visual system
1201 2202 2588 1941 4713 1302 1826 4 278 901 121 2057 5058 5013 31 3699 610 1530 1446 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001365758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000318698   ⟹   ENSP00000321627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,153,475 - 56,482,646 (+)Ensembl
Ensembl Acc Id: ENST00000566473   ⟹   ENSP00000454224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,153,510 - 56,511,659 (+)Ensembl
Ensembl Acc Id: ENST00000572312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,323,223 - 56,326,333 (+)Ensembl
Ensembl Acc Id: ENST00000572321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,456,947 - 56,463,906 (+)Ensembl
Ensembl Acc Id: ENST00000572945   ⟹   ENSP00000458227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,174,175 - 56,353,895 (+)Ensembl
Ensembl Acc Id: ENST00000573365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,227,917 - 56,258,359 (+)Ensembl
Ensembl Acc Id: ENST00000574292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,153,471 - 56,227,957 (+)Ensembl
Ensembl Acc Id: ENST00000575594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,110,958 - 56,228,550 (+)Ensembl
Ensembl Acc Id: ENST00000635860   ⟹   ENSP00000489811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1755,882,301 - 56,511,659 (+)Ensembl
Ensembl Acc Id: ENST00000653862   ⟹   ENSP00000499705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1755,962,062 - 56,511,659 (+)Ensembl
Ensembl Acc Id: ENST00000682825   ⟹   ENSP00000507365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,153,475 - 56,517,016 (+)Ensembl
RefSeq Acc Id: NM_001365758   ⟹   NP_001352687
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,153,475 - 56,517,016 (+)NCBI
T2T-CHM13v2.01757,029,619 - 57,393,142 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370326   ⟹   NP_001357255
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,153,475 - 56,517,016 (+)NCBI
T2T-CHM13v2.01757,029,619 - 57,393,142 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153228   ⟹   NP_694960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,153,475 - 56,482,648 (+)NCBI
GRCh371754,230,836 - 54,560,007 (+)RGD
Build 361751,585,835 - 51,915,006 (+)NCBI Archive
Celera1750,692,552 - 51,021,724 (+)RGD
HuRef1749,590,661 - 49,920,823 (+)RGD
CHM1_11754,295,756 - 54,624,936 (+)NCBI
T2T-CHM13v2.01757,029,619 - 57,358,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721728   ⟹   XP_006721791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,323,451 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524428   ⟹   XP_011522730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,153,475 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524429   ⟹   XP_011522731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,224,509 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524430   ⟹   XP_011522732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,110,974 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524431   ⟹   XP_011522733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,110,974 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524433   ⟹   XP_011522735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,412,562 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524434   ⟹   XP_011522736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,451,943 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024263   ⟹   XP_016879752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,110,974 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024265   ⟹   XP_016879754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,181,244 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024266   ⟹   XP_016879755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,224,509 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024267   ⟹   XP_016879756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,284,617 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024269   ⟹   XP_016879758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,270,223 - 56,517,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435502   ⟹   XP_047291458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,046,077 - 56,517,016 (+)NCBI
RefSeq Acc Id: XM_054315243   ⟹   XP_054171218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01756,987,080 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315244   ⟹   XP_054171219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,057,390 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315245   ⟹   XP_054171220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,100,667 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315246   ⟹   XP_054171221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,029,619 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315247   ⟹   XP_054171222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,100,667 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315248   ⟹   XP_054171223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,160,777 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315249   ⟹   XP_054171224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01756,987,080 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315250   ⟹   XP_054171225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01756,922,200 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315251   ⟹   XP_054171226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,146,383 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315252   ⟹   XP_054171227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,199,610 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315253   ⟹   XP_054171228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,288,587 - 57,393,142 (+)NCBI
RefSeq Acc Id: XM_054315254   ⟹   XP_054171229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,328,105 - 57,393,142 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001352687 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357255 (Get FASTA)   NCBI Sequence Viewer  
  NP_694960 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721791 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522730 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522731 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522732 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522733 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522735 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522736 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879752 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879754 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879755 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879756 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879758 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171219 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171221 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171223 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171228 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171229 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAC04599 (Get FASTA)   NCBI Sequence Viewer  
  EAW94530 (Get FASTA)   NCBI Sequence Viewer  
  EAW94531 (Get FASTA)   NCBI Sequence Viewer  
  EAW94532 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000321627
  ENSP00000321627.2
  ENSP00000454224
  ENSP00000454224.2
  ENSP00000458227.1
  ENSP00000489811.2
  ENSP00000499705.1
  ENSP00000507365
  ENSP00000507365.1
GenBank Protein Q8N957 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_694960   ⟸   NM_153228
- Peptide Label: isoform 2
- UniProtKB: Q8N957 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721791   ⟸   XM_006721728
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522733   ⟸   XM_011524431
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522732   ⟸   XM_011524430
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522730   ⟸   XM_011524428
- Peptide Label: isoform X3
- UniProtKB: H3BM45 (UniProtKB/TrEMBL),   A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522731   ⟸   XM_011524429
- Peptide Label: isoform X4
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522735   ⟸   XM_011524433
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011522736   ⟸   XM_011524434
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016879752   ⟸   XM_017024263
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879754   ⟸   XM_017024265
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879755   ⟸   XM_017024266
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879758   ⟸   XM_017024269
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879756   ⟸   XM_017024267
- Peptide Label: isoform X5
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352687   ⟸   NM_001365758
- Peptide Label: isoform 1
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357255   ⟸   NM_001370326
- Peptide Label: isoform 3
- UniProtKB: Q8N957 (UniProtKB/Swiss-Prot),   A0A804HJ58 (UniProtKB/TrEMBL),   A0A1B0GTR8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000489811   ⟸   ENST00000635860
Ensembl Acc Id: ENSP00000458227   ⟸   ENST00000572945
Ensembl Acc Id: ENSP00000499705   ⟸   ENST00000653862
Ensembl Acc Id: ENSP00000454224   ⟸   ENST00000566473
Ensembl Acc Id: ENSP00000321627   ⟸   ENST00000318698
Ensembl Acc Id: ENSP00000507365   ⟸   ENST00000682825
RefSeq Acc Id: XP_047291458   ⟸   XM_047435502
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171225   ⟸   XM_054315250
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171218   ⟸   XM_054315243
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171224   ⟸   XM_054315249
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171221   ⟸   XM_054315246
- Peptide Label: isoform X3
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171219   ⟸   XM_054315244
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171220   ⟸   XM_054315245
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171222   ⟸   XM_054315247
- Peptide Label: isoform X4
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171226   ⟸   XM_054315251
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171223   ⟸   XM_054315248
- Peptide Label: isoform X5
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171227   ⟸   XM_054315252
- Peptide Label: isoform X6
- UniProtKB: A0A1B0GTR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171228   ⟸   XM_054315253
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054171229   ⟸   XM_054315254
- Peptide Label: isoform X8
Protein Domains
Fibronectin type-III

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N957-F1-model_v2 AlphaFold Q8N957 1-763 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26766 AgrOrtholog
COSMIC ANKFN1 COSMIC
Ensembl Genes ENSG00000153930 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318698 ENTREZGENE
  ENST00000318698.6 UniProtKB/Swiss-Prot
  ENST00000566473 ENTREZGENE
  ENST00000566473.6 UniProtKB/TrEMBL
  ENST00000572945.1 UniProtKB/TrEMBL
  ENST00000635860.2 UniProtKB/TrEMBL
  ENST00000653862.1 UniProtKB/TrEMBL
  ENST00000682825 ENTREZGENE
  ENST00000682825.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153930 GTEx
HGNC ID HGNC:26766 ENTREZGENE
Human Proteome Map ANKFN1 Human Proteome Map
InterPro ANKFN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:162282 UniProtKB/Swiss-Prot
NCBI Gene 162282 ENTREZGENE
OMIM 620853 OMIM
PANTHER ANKYRIN REPEAT AND FIBRONECTIN TYPE-III DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21437 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672624 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTR8 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UK59_HUMAN UniProtKB/TrEMBL
  A0A804HJ58 ENTREZGENE
  ANKF1_HUMAN UniProtKB/Swiss-Prot
  H3BM45 ENTREZGENE, UniProtKB/TrEMBL
  I3L0N6_HUMAN UniProtKB/TrEMBL
  Q8N957 ENTREZGENE
UniProt Secondary A0A804HJ58 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ANKFN1  ankyrin repeat and fibronectin type III domain containing 1    ankyrin-repeat and fibronectin type III domain containing 1  Symbol and/or name change 5135510 APPROVED