FER1L6 (fer-1 like family member 6) - Rat Genome Database

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Gene: FER1L6 (fer-1 like family member 6) Homo sapiens
Analyze
Symbol: FER1L6
Name: fer-1 like family member 6
RGD ID: 1625099
HGNC Page HGNC
Description: Predicted to have metal ion binding activity. Predicted to be involved in plasma membrane organization. Predicted to localize to integral component of membrane; INTERACTS WITH 8-Br-cAMP; aflatoxin B1; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8ORFK23; fer-1-like 6; fer-1-like family member 6; fer-1-like protein 6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,851,987 - 124,120,061 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,851,987 - 124,120,061 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,864,227 - 125,132,302 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,933,408 - 125,201,483 (+)NCBINCBI36hg18NCBI36
Celera8121,142,008 - 121,320,410 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,190,920 - 120,458,990 (+)NCBIHuRef
CHM1_18124,904,515 - 125,172,589 (+)NCBICHM1_1
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

References

Additional References at PubMed
PMID:20200978   PMID:20379614   PMID:21873635   PMID:30021884  


Genomics

Comparative Map Data
FER1L6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,851,987 - 124,120,061 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,851,987 - 124,120,061 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,864,227 - 125,132,302 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,933,408 - 125,201,483 (+)NCBINCBI36hg18NCBI36
Celera8121,142,008 - 121,320,410 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,190,920 - 120,458,990 (+)NCBIHuRef
CHM1_18124,904,515 - 125,172,589 (+)NCBICHM1_1
Fer1l6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,381,897 - 58,536,936 (+)NCBIGRCm39mm39
GRCm39 Ensembl1558,381,897 - 58,536,941 (+)Ensembl
GRCm381558,510,048 - 58,665,087 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,510,048 - 58,665,092 (+)EnsemblGRCm38mm10GRCm38
MGSCv371558,341,609 - 58,494,449 (+)NCBIGRCm37mm9NCBIm37
MGSCv361558,340,131 - 58,492,977 (+)NCBImm8
Celera1560,038,948 - 60,192,509 (+)NCBICelera
Cytogenetic Map15D1NCBI
Fer1l6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,093,567 - 90,216,907 (+)NCBI
Rnor_6.0 Ensembl798,432,024 - 98,553,096 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0798,399,207 - 98,555,215 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,998,421 - 99,152,741 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,281,291 - 95,419,204 (+)NCBIRGSC3.4rn4RGSC3.4
Celera786,826,752 - 86,982,137 (+)NCBICelera
Cytogenetic Map7q33NCBI
Fer1l6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,686,221 - 2,834,896 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,686,227 - 2,834,877 (+)NCBIChiLan1.0ChiLan1.0
FER1L6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18123,399,020 - 123,562,429 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8123,395,712 - 123,562,429 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08120,643,916 - 120,808,269 (+)NCBIMhudiblu_PPA_v0panPan3
FER1L6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11322,172,348 - 22,291,427 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1322,137,080 - 22,290,989 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,102,580 - 22,258,237 (+)NCBI
ROS_Cfam_1.01322,478,877 - 22,634,393 (+)NCBI
UMICH_Zoey_3.11322,205,709 - 22,361,362 (+)NCBI
UNSW_CanFamBas_1.01322,309,451 - 22,465,151 (+)NCBI
UU_Cfam_GSD_1.01322,551,795 - 22,707,327 (+)NCBI
Fer1l6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,003,716 - 16,100,496 (-)NCBI
SpeTri2.0NW_00493647023,430,982 - 23,544,510 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FER1L6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,435,063 - 15,610,320 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,435,621 - 15,610,496 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
FER1L6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18118,483,862 - 118,690,710 (+)NCBI
ChlSab1.1 Ensembl8118,526,691 - 118,690,288 (+)Ensembl
Fer1l6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,000,479 - 31,186,392 (-)NCBI

Position Markers
D8S1804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,864,668 - 124,864,876UniSTSGRCh37
Build 368124,933,849 - 124,934,057RGDNCBI36
Celera8121,052,216 - 121,052,424RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
Cytogenetic Map3p26.1UniSTS
HuRef8120,191,361 - 120,191,561UniSTS
Marshfield Genetic Map8131.69UniSTS
Marshfield Genetic Map8131.69RGD
Genethon Genetic Map8130.5UniSTS
TNG Radiation Hybrid Map860184.0UniSTS
deCODE Assembly Map8127.49UniSTS
D8S2064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,131,449 - 125,131,673UniSTSGRCh37
Build 368125,200,630 - 125,200,854RGDNCBI36
Celera8121,319,557 - 121,319,781RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
HuRef8120,458,137 - 120,458,361UniSTS
RH65554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,019,176 - 125,019,325UniSTSGRCh37
Build 368125,088,357 - 125,088,506RGDNCBI36
Celera8121,207,203 - 121,207,352RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
HuRef8120,345,934 - 120,346,083UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
NCBI RH Map81460.5UniSTS
RH92138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,070,835 - 125,070,978UniSTSGRCh37
Build 368125,140,016 - 125,140,159RGDNCBI36
Celera8121,258,864 - 121,259,007RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
HuRef8120,397,598 - 120,397,741UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
SHGC-81177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,102,256 - 125,102,562UniSTSGRCh37
Build 368125,171,437 - 125,171,743RGDNCBI36
Celera8121,290,291 - 121,290,597RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
HuRef8120,428,910 - 120,429,216UniSTS
TNG Radiation Hybrid Map860302.0UniSTS
D8S54  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,045,998 - 125,046,072UniSTSGRCh37
Build 368125,115,179 - 125,115,253RGDNCBI36
Celera8121,234,030 - 121,234,104RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
HuRef8120,372,762 - 120,372,836UniSTS
D8S598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,862,484 - 124,862,704UniSTSGRCh37
Build 368124,931,665 - 124,931,885RGDNCBI36
Celera8121,050,032 - 121,050,252RGD
Cytogenetic Map8q24.1UniSTS
HuRef8120,189,177 - 120,189,397UniSTS
SHGC-106961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,961,868 - 124,962,145UniSTSGRCh37
Build 368125,031,049 - 125,031,326RGDNCBI36
Celera8121,149,915 - 121,150,192RGD
Cytogenetic Map8q24.1UniSTS
HuRef8120,288,650 - 120,288,927UniSTS
TNG Radiation Hybrid Map860233.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:334
Count of miRNA genes:163
Interacting mature miRNAs:165
Transcripts:ENST00000399018, ENST00000522917
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 100 6 4 15 4 4 3 4 16 8 3
Low 635 18 456 31 121 29 71 72 34 119 404 512 7 3 49
Below cutoff 1057 1673 690 267 574 123 2797 1426 2393 174 654 785 151 762 1889 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001039112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB196633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW010047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF573666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000522917   ⟹   ENSP00000428280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,851,987 - 124,120,061 (+)Ensembl
RefSeq Acc Id: NM_001039112   ⟹   NP_001034201
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,851,987 - 124,120,061 (+)NCBI
GRCh378124,864,227 - 125,132,412 (+)NCBI
Build 368124,933,408 - 125,201,483 (+)NCBI Archive
Celera8121,142,008 - 121,320,410 (+)RGD
HuRef8120,190,920 - 120,458,990 (+)NCBI
CHM1_18124,904,515 - 125,172,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716618   ⟹   XP_006716681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,914,565 - 124,120,055 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517231   ⟹   XP_011515533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,914,565 - 124,120,055 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517232   ⟹   XP_011515534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,943,365 - 124,120,055 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517233   ⟹   XP_011515535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,943,365 - 124,120,055 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517235   ⟹   XP_011515537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,914,564 - 124,079,540 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517236   ⟹   XP_011515538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,040,034 - 124,120,055 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928347
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,914,564 - 124,076,280 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001034201   ⟸   NM_001039112
- UniProtKB: Q2WGJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716681   ⟸   XM_006716618
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515533   ⟸   XM_011517231
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515537   ⟸   XM_011517235
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515534   ⟸   XM_011517232
- Peptide Label: isoform X3
- UniProtKB: Q2WGJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515535   ⟸   XM_011517233
- Peptide Label: isoform X3
- UniProtKB: Q2WGJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515538   ⟸   XM_011517236
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000428280   ⟸   ENST00000522917
Protein Domains
C2

Promoters
RGD ID:7214141
Promoter ID:EPDNEW_H12817
Type:single initiation site
Name:FER1L6_1
Description:fer-1 like family member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,909,717 - 123,909,777EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_001039112.2(FER1L6):c.1041C>T (p.Ser347=) single nucleotide variant Malignant melanoma [RCV000068142] Chr8:123977587 [GRCh38]
Chr8:124989827 [GRCh37]
Chr8:125059008 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.3293C>T (p.Pro1098Leu) single nucleotide variant Malignant melanoma [RCV000068143] Chr8:124061997 [GRCh38]
Chr8:125074238 [GRCh37]
Chr8:125143419 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.4303G>T (p.Asp1435Tyr) single nucleotide variant Malignant melanoma [RCV000068144] Chr8:124082370 [GRCh38]
Chr8:125094611 [GRCh37]
Chr8:125163792 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.4365C>T (p.Ile1455=) single nucleotide variant Malignant melanoma [RCV000068145] Chr8:124082432 [GRCh38]
Chr8:125094673 [GRCh37]
Chr8:125163854 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.1899C>T (p.Leu633=) single nucleotide variant Malignant melanoma [RCV000061747] Chr8:124013508 [GRCh38]
Chr8:125025748 [GRCh37]
Chr8:125094929 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.3084C>T (p.Ser1028=) single nucleotide variant Malignant melanoma [RCV000061748] Chr8:124060646 [GRCh38]
Chr8:125072887 [GRCh37]
Chr8:125142068 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.3659C>T (p.Ser1220Phe) single nucleotide variant Malignant melanoma [RCV000061749] Chr8:124066531 [GRCh38]
Chr8:125078772 [GRCh37]
Chr8:125147953 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.3997G>A (p.Asp1333Asn) single nucleotide variant Malignant melanoma [RCV000061750] Chr8:124071536 [GRCh38]
Chr8:125083777 [GRCh37]
Chr8:125152958 [NCBI36]
Chr8:8q24.13
not provided
NM_001039112.2(FER1L6):c.-8+29420C>T single nucleotide variant Lung cancer [RCV000107007] Chr8:123881605 [GRCh38]
Chr8:124893845 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_001039112.2(FER1L6):c.-8+50922A>G single nucleotide variant Lung cancer [RCV000107008] Chr8:123903107 [GRCh38]
Chr8:124915347 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124922842-124990998)x1 copy number loss See cases [RCV000447457] Chr8:124922842..124990998 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:125129829-125384737)x3 copy number gain See cases [RCV000447786] Chr8:125129829..125384737 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13(chr8:124890537-125009096)x1 copy number loss See cases [RCV000447792] Chr8:124890537..125009096 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124890537-125009096)x1 copy number loss not provided [RCV000682930] Chr8:124890537..125009096 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124895809-125006489)x1 copy number loss not provided [RCV000747814] Chr8:124895809..125006489 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124896389-125006489)x1 copy number loss not provided [RCV000747815] Chr8:124896389..125006489 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:125101896-125110600)x1 copy number loss not provided [RCV000747816] Chr8:125101896..125110600 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.4344C>T (p.Phe1448=) single nucleotide variant not provided [RCV000947134] Chr8:124082411 [GRCh38]
Chr8:125094652 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.712C>T (p.Leu238=) single nucleotide variant not provided [RCV000880738] Chr8:123975926 [GRCh38]
Chr8:124988166 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.713T>C (p.Leu238Pro) single nucleotide variant not provided [RCV000880739] Chr8:123975927 [GRCh38]
Chr8:124988167 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.822T>C (p.Ser274=) single nucleotide variant not provided [RCV000880740] Chr8:123976036 [GRCh38]
Chr8:124988276 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.260T>A (p.Ile87Lys) single nucleotide variant not provided [RCV000971905] Chr8:123966166 [GRCh38]
Chr8:124978406 [GRCh37]
Chr8:8q24.13
likely benign
NM_001039112.2(FER1L6):c.4089C>T (p.Val1363=) single nucleotide variant not provided [RCV000947133] Chr8:124071628 [GRCh38]
Chr8:125083869 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.4236A>G (p.Gln1412=) single nucleotide variant not provided [RCV000892918] Chr8:124082303 [GRCh38]
Chr8:125094544 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.2827G>T (p.Gly943Trp) single nucleotide variant not provided [RCV000923690] Chr8:124049709 [GRCh38]
Chr8:125061950 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001039112.2(FER1L6):c.2961G>A (p.Pro987=) single nucleotide variant not provided [RCV000920431] Chr8:124060266 [GRCh38]
Chr8:125072507 [GRCh37]
Chr8:8q24.13
likely benign
NM_001039112.2(FER1L6):c.2781C>T (p.Asp927=) single nucleotide variant not provided [RCV000915761] Chr8:124049663 [GRCh38]
Chr8:125061904 [GRCh37]
Chr8:8q24.13
likely benign
NM_001039112.2(FER1L6):c.4908C>T (p.Asp1636=) single nucleotide variant not provided [RCV000964135] Chr8:124101121 [GRCh38]
Chr8:125113362 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.2590-8G>C single nucleotide variant not provided [RCV000894193] Chr8:124045759 [GRCh38]
Chr8:125058000 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.541A>G (p.Asn181Asp) single nucleotide variant not provided [RCV000885659] Chr8:123975164 [GRCh38]
Chr8:124987404 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.2981T>G (p.Val994Gly) single nucleotide variant not provided [RCV000949531] Chr8:124060286 [GRCh38]
Chr8:125072527 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124443708-125305582)x1 copy number loss not provided [RCV000848210] Chr8:124443708..125305582 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_001039112.2(FER1L6):c.404T>C (p.Ile135Thr) single nucleotide variant not provided [RCV000910643] Chr8:123970054 [GRCh38]
Chr8:124982294 [GRCh37]
Chr8:8q24.13
benign
NM_001039112.2(FER1L6):c.2414C>T (p.Ser805Phe) single nucleotide variant not provided [RCV000910644] Chr8:124035404 [GRCh38]
Chr8:125047645 [GRCh37]
Chr8:8q24.13
likely benign
NM_001039112.2(FER1L6):c.3328G>A (p.Asp1110Asn) single nucleotide variant not provided [RCV000889700] Chr8:124062032 [GRCh38]
Chr8:125074273 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28065 AgrOrtholog
COSMIC FER1L6 COSMIC
Ensembl Genes ENSG00000214814 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000428280 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000522917 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot
GTEx ENSG00000214814 GTEx
HGNC ID HGNC:28065 ENTREZGENE
Human Proteome Map FER1L6 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot
  C2_domain_sf UniProtKB/Swiss-Prot
  C2B_Ferlin UniProtKB/Swiss-Prot
  C2C_Ferlin UniProtKB/Swiss-Prot
  C2D_Ferlin UniProtKB/Swiss-Prot
  C2E_Ferlin UniProtKB/Swiss-Prot
  C2F_Ferlin UniProtKB/Swiss-Prot
  FER1L6 UniProtKB/Swiss-Prot
  FerIin_dom UniProtKB/Swiss-Prot
  Ferlin UniProtKB/Swiss-Prot
  Ferlin_B-domain UniProtKB/Swiss-Prot
  Ferlin_C UniProtKB/Swiss-Prot
KEGG Report hsa:654463 UniProtKB/Swiss-Prot
NCBI Gene 654463 ENTREZGENE
PANTHER PTHR12546 UniProtKB/Swiss-Prot
  PTHR12546:SF37 UniProtKB/Swiss-Prot
Pfam FerB UniProtKB/Swiss-Prot
  FerI UniProtKB/Swiss-Prot
  Ferlin_C UniProtKB/Swiss-Prot
  PF00168 UniProtKB/Swiss-Prot
PharmGKB PA162388227 PharmGKB
PROSITE PS50004 UniProtKB/Swiss-Prot
SMART FerB UniProtKB/Swiss-Prot
  FerI UniProtKB/Swiss-Prot
  SM00239 UniProtKB/Swiss-Prot
UniProt FR1L6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 FER1L6  fer-1 like family member 6    fer-1-like family member 6  Symbol and/or name change 5135510 APPROVED
2014-07-01 FER1L6  fer-1-like family member 6    fer-1-like 6 (C. elegans)  Symbol and/or name change 5135510 APPROVED