AutismKB 2.0

Annotation Detail for FTL


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Basic Information Top
Gene Symbol:FTL ( MGC71996,NBIA3 )
Gene Full Name: ferritin, light polypeptide
Band: 19q13.33
Quick LinksEntrez ID:2512; OMIM: 134790; Uniprot ID:FRIL_HUMAN; ENSEMBL ID: ENSG00000087086; HGNC ID: 3999
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body26 / 70761367
blastocyst26 / 62319417
fetus353 / 564012625
neonate15 / 31097482
infant17 / 23620719
juvenile19 / 55556341
adult2510 / 19391211294
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor71 / 127945549
bladder carcinoma111 / 174756351
breast (mammary gland) tumor74 / 94178785
cervical tumor16 / 34366465
chondrosarcoma212 / 828232559
colorectal tumor143 / 1142461251
esophageal tumor1 / 1729057
gastrointestinal tumor105 / 119369879
germ cell tumor397 / 2638451504
glioma199 / 1068831861
head and neck tumor193 / 1363021415
kidney tumor545 / 689597903
leukemia283 / 958422952
liver tumor471 / 963594887
lung tumor261 / 1031272530
lymphoma22 / 71755306
non-neoplasia68 / 97250699
normal4715 / 33603071403
ovarian tumor49 / 76682639
pancreatic tumor450 / 1046164301
primitive neuroectodermal tumor of the CNS40 / 125680318
prostate cancer171 / 1026801665
retinoblastoma24 / 46356517
skin tumor253 / 1249492024
soft tissue/muscle tissue tumor84 / 125191670
uterine tumor74 / 90257819
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal2 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue31 / 131062365
adrenal gland84 / 331972530
ascites58 / 400151449
bladder112 / 297573763
blood551 / 1234784462
bone126 / 716551758
bone marrow322 / 488016598
brain683 / 1100989620
cervix21 / 48171435
connective tissue103 / 149255690
ear0 / 162120 
embryonic tissue119 / 215722551
esophagus1 / 2020949
eye188 / 211054890
heart134 / 896261495
intestine269 / 2344721147
kidney759 / 2117773583
larynx46 / 241451905
liver1063 / 2077435116
lung1007 / 3369742988
lymph13 / 44270293
lymph node22 / 91610240
mammary gland285 / 1532711859
mouth31 / 67052462
muscle85 / 107715789
nerve2 / 15768126
ovary70 / 102051685
pancreas549 / 2148122555
parathyroid26 / 205391265
pharynx454 / 4132810985
pituitary gland10 / 16585602
placenta249 / 280825886
prostate344 / 1893451816
salivary gland190 / 201559426
skin337 / 2105741600
spleen153 / 539522835
stomach63 / 96619652
testis300 / 330442907
thymus7 / 8113186
thyroid11 / 47473231
tonsil9 / 16999529
trachea1 / 5241319
umbilical cord12 / 13680877
uterus272 / 2328781167
vascular106 / 517802047
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213187_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts2851.85
Adipocyte8584.8
AdrenalCortex1038.45
Adrenalgland1559.55
Amygdala1812.3
Appendix1993.35
AtrioventricularNode1266.25
BDCA4+_DentriticCells3368.3
Bonemarrow3715.45
BronchialEpithelialCells5679.4
CD105+_Endothelial3024.35
CD14+_Monocytes6330.75
CD19+_BCells(neg._sel.)2766.95
CD33+_Myeloid7132.05
CD34+2234
CD4+_Tcells1464.35
CD56+_NKCells3309.1
CD71+_EarlyErythroid2039.4
CD8+_Tcells1368.65
CardiacMyocytes4267.7
Caudatenucleus1596.2
Cerebellum794.8
CerebellumPeduncles1069.6
CiliaryGanglion1068.8
CingulateCortex865.3
Colorectaladenocarcinoma2539.6
DorsalRootGanglion1385.3
FetalThyroid2636.85
Fetalbrain1212.5
Fetalliver6373.05
Fetallung4286.55
GlobusPallidus783.1
Heart3635.3
Hypothalamus2515.5
Kidney7172.55
Leukemia_chronicMyelogenousK-5621606.45
Leukemia_promyelocytic-HL-601079.95
Leukemialymphoblastic(MOLT-4)744.6
Liver11239.95
Lung9492.55
Lymphnode3282.3
Lymphoma_burkitts(Daudi)717.5
Lymphoma_burkitts(Raji)1035.25
MedullaOblongata1419.1
OccipitalLobe1664.65
OlfactoryBulb3139.9
Ovary1459.8
Pancreas1611.55
PancreaticIslet3275.35
ParietalLobe1424.15
Pituitary1225.7
Placenta3849.45
Pons1082.3
PrefrontalCortex3286.15
Prostate1957.15
Salivarygland360.45
SkeletalMuscle402
Skin390.7
SmoothMuscle4982.45
Spinalcord3134.65
SubthalamicNucleus777.1
SuperiorCervicalGanglion462.5
TemporalLobe1369.85
Testis365.75
TestisGermCell400.95
TestisIntersitial312
TestisLeydigCell386.9
TestisSeminiferousTubule428.55
Thalamus1455.45
Thymus1460.15
Thyroid2002.1
Tongue649.2
Tonsil1321.2
Trachea1251.15
TrigeminalGanglion1243.05
Uterus1359.25
UterusCorpus2673.55
WholeBlood7285.95
Wholebrain2493.75
colon1461.4
pineal_day1756.8
pineal_night1475.46
retina4298.45
small_intestine2185.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P50504
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala9.26 ± 0.52
Basal Forebrain9.64 ± 0.24
Basal Part of Pons9.16 ± 0.73
Cerebellar Cortex8.77 ± 0.27
Cerebellar Nuclei9.29 ± 0.5
Claustrum8.71 ± 0.89
Epithalamus9.98 ± 0.53
Frontal Lobe9.33 ± 0.55
Globus Pallidus10.25 ± 0.23
Hypothalamus9.5 ± 0.53
Insula9.5 ± 0.39
Limbic Lobe8.99 ± 0.63
Mesencephalon9.39 ± 0.64
Myelencephalon9.39 ± 0.5
Occipital Lobe8.72 ± 0.57
Parietal Lobe9.22 ± 0.56
Pontine Tegmentum9.32 ± 0.46
Striatum10.04 ± 0.37
Subthalamus9.2 ± 0.8
Temporal Lobe9.51 ± 0.48
Thalamus9.37 ± 0.48
White Matter10.29 ± 0.69
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FRIL_HUMAN_0 0 0 0 ALFQDIK PRIDE
FRIL_HUMAN_0 0 0 0 DDVALEGVSHFFR PRIDE
FRIL_HUMAN_0 0 0 0 KLNQALLDLHALGSAR PRIDE
FRIL_HUMAN_0 0 0 0 KPAEDEWGKTPDAMK PRIDE
FRIL_HUMAN_0 0 0 0 LGGPEAGLGEYLFER PRIDE
FRIL_HUMAN_0 0 0 0 LNQALLDLHALGSAR PRIDE
FRIL_HUMAN_0 0 0 0 TDPHLCDFLETHFLDEEVK PRIDE
FRIL_HUMAN_105 16 105 120 KLNQALLDLHALGSAR PRIDE
FRIL_HUMAN_106 15 106 120 LNQALLDLHALGSAR PRIDE
FRIL_HUMAN_121 19 121 139 TDPHLCDFLETHFLDEEVK PRIDE
FRIL_HUMAN_143 11 143 153 KMGDHLTNLHR PRIDE
FRIL_HUMAN_154 15 154 168 LGGPEAGLGEYLFER PRIDE
FRIL_HUMAN_154 21 154 174 LGGPEAGLGEYLFERLTLKHD PRIDE
FRIL_HUMAN_76 22 76 97 ALFQDIKKPAEDEWGKTPDAMK PRIDE
FRIL_HUMAN_76 7 76 82 ALFQDIK PRIDE
FRIL_HUMAN_83 15 83 97 KPAEDEWGKTPDAMK PRIDE
PAp00007648 19 122 140 TDPHLCDFLETHFLDEEVK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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